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1. Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.

Author

Wencel, Marie, Shaibani, Aziz, Goyal, Namita A, Dimachkie, Mazen M, Trivedi, Jaya, Johnson, Nicholas E, Gutmann, Laurie, Wicklund, Matthew P, Bandyopadhay, Sankar, Genge, Angela L, Freimer, Miriam L, Goyal, Neelam, Pestronk, Alan, Florence, Julaine, Karam, Chafic, Ralph, Jeffrey W, Rasheed, Zinah, Hays, Melissa, Hopkins, Steve, and Mozaffar, Tahseen

Subjects
Genetic Testing, Liver Disease, Digestive Diseases, Chronic Liver Disease and Cirrhosis, Genetics, Rare Diseases, Clinical Research, Neurosciences
Abstract

Background and objectivesWe investigated the prevalence of late-onset Pompe disease (LOPD) in patients presenting to 13 academic, tertiary neuromuscular practices in the United States and Canada.MethodsAll successive patients presenting with proximal muscle weakness or isolated hyperCKemia and/or neck muscle weakness to these 13 centers were invited to participate in the study. Whole blood was tested for acid alpha-glucosidase (GAA) assay through the fluorometric method, and all cases with enzyme levels of ≤10 pmoL/punch/h were reflexed to molecular testing for mutations in the GAA gene. Clinical and demographic information was abstracted from their clinical visit and, along with study data, entered into a purpose-built REDCap database, and analyzed at the University of California, Irvine.ResultsGAA enzyme assay results were available on 906 of the 921 participants who consented for the study. LOPD was confirmed in 9 participants (1% prevalence). Another 9 (1%) were determined to have pseudodeficiency of GAA, whereas 19 (1.9%) were found to be heterozygous for a pathogenic GAA mutation (carriers). Of the definite LOPD participants, 8 (89%) were Caucasian and were heterozygous for the common leaky (IVS1) splice site mutation in the GAA gene (c -32-13T>G), with a second mutation that was previously confirmed to be pathogenic.DiscussionThe prevalence of LOPD in undiagnosed patients meeting the criteria of proximal muscle weakness, high creatine kinase, and/or neck weakness in academic, tertiary neuromuscular practices in the United States and Canada is estimated to be 1%, with an equal prevalence rate of pseudodeficiency alleles.Trial registration informationClinical trial registration number: NCT02838368.

Published
2021

2. The CINRG Becker Natural History Study: Baseline characteristics.

Author

Clemens, Paula, Niizawa, Gabriela, Feng, Jia, Florence, Julaine, DʼAlessandro, Andrea, Morgenroth, Lauren, Gorni, Ksenija, Guglieri, Michela, Connolly, Anne, Wicklund, Matthew, Bertorini, Tulio, Mah, Jean, Thangarajh, Mathula, Smith, Edward, Kuntz, Nancy, Henricson, Erik, Upadhyayula, Saila, Byrne, Barry, Manousakis, Georgios, Harper, Amy, Bravver, Elena, Iannaccone, Susan, Spurney, Christopher, Cnaan, Avital, Gordish-Dressman, Heather, and McDonald, Craig

Subjects
Becker muscular dystrophy, clinical features, dystrophinopathy, musculoskeletal, Adolescent, Adult, Aged, Child, Child, Preschool, Disease Progression, Dystrophin, Gene Deletion, Humans, Longitudinal Studies, Male, Middle Aged, Muscular Dystrophy, Duchenne, Phenotype, Prospective Studies, Symptom Assessment, Young Adult
Abstract

We performed an observational, natural history study of males with in-frame dystrophin gene deletions causing Becker muscular dystrophy (BMD). A prospective natural history study collected longitudinal medical, strength, and timed function assessments. Eighty-three participants with genetically confirmed BMD were enrolled (age range 5.6-75.4 years). Lower extremity function and the percentage of participants who retained ambulation declined across the age span. The largest single group of participants had in-frame deletions that corresponded to an out-of-frame deletion treated with an exon 45 skip to restore the reading frame. This group of 54 participants showed similarities in baseline motor functional assessments when compared to the group of all others in the study. A prospective natural history cohort with in-frame dystrophin gene deletions offers the potential to contribute to clinical trial readiness for BMD and to analyze therapeutic benefit of exon skipping for Duchenne muscular dystrophy.

Published
2020

3. Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America

Author

Green, Joshua D, Barohn, Richard J, Bartoccion, Emanuela, Benatar, Michael, Blackmore, Derrick, Chaudhry, Vinay, Chopra, Manisha, Corse, Andrea, Dimachkie, Mazen M, Evoli, Amelia, Florence, Julaine, Freimer, Miriam, Howard, James F, Jiwa, Theresa, Kaminski, Henry J, Kissel, John T, Koopman, Wilma J, Lipscomb, Bernadette, Maestri, Michelanglo, Marino, Mariapaola, Massey, Janice M, McVey, April, Mezei, Michelle M, Muppidi, Srikanth, Nicolle, Michael W, Oger, Joel, Pascuzzi, Robert M, Pasnoor, Mamatha, Pestronk, Alan, Provenzano, Carlo, Ricciardi, Roberta, Richman, David P, Rowin, Julie, Sanders, Donald B, Siddiqi, Zaeem, Soloway, Aimee, Wolfe, Gil I, Wulf, Charlie, Drachman, Daniel B, and Traynor, Bryan J

Subjects
Genetics, Neurodegenerative, Clinical Research, Myasthenia Gravis, Autoimmune Disease, Rare Diseases, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Autoantibodies, Humans, North America, Receptors, Cholinergic, Retrospective Studies, epidemiology, neuromuscular disease, genetics, neurology, neurogenetics, Clinical Sciences, Public Health and Health Services, Other Medical and Health Sciences
Abstract

ObjectivesTo approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families.DesignRetrospective cohort study.SettingClinics across North America.ParticipantsThe study included 1032 patients diagnosed with acetylcholine receptor antibody (AChR)-positive myasthenia gravis.MethodsPhenotype information of 1032 patients diagnosed with AChR-positive myasthenia gravis was obtained from clinics at 14 centres across North America between January 2010 and January 2011. A critical review of the epidemiological literature on the familial rate of myasthenia gravis was also performed.ResultsAmong 1032 patients, 58 (5.6%) reported a family history of myasthenia gravis. A history of autoimmune diseases was present in 26.6% of patients and in 28.4% of their family members.DiscussionThe familial rate of myasthenia gravis was higher than would be expected for a sporadic disease. Furthermore, a high proportion of patients had a personal or family history of autoimmune disease. Taken together, these findings suggest a genetic contribution to the pathogenesis of myasthenia gravis.

Published
2020

4. Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy.

Author

Argov, Zohar, Bronstein, Faye, Esposito, Alicia, Feinsod-Meiri, Yael, Florence, Julaine, Fowler, Eileen, Greenberg, Marcia, Malkus, Elizabeth, Rebibo, Odelia, Siener, Catherine, Caraco, Yoseph, Kolodny, Edwin, Lau, Heather, Pestronk, Alan, Shieh, Perry, Skrinar, Alison, and Mayhew, Jill

Subjects
Adolescent, Adult, Aged, Female, Humans, Lower Extremity, Male, Middle Aged, Motor Activity, Muscle Strength, Muscle Weakness, Muscle, Skeletal, Myositis, Inclusion Body, N-Acetylneuraminic Acid, Young Adult
Abstract

OBJECTIVE: To characterize the pattern and extent of muscle weakness and impact on physical functioning in adults with GNEM. METHODS: Strength and function were assessed in GNEM subjects (n = 47) using hand-held dynamometry, manual muscle testing, upper and lower extremity functional capacity tests, and the GNEM-Functional Activity Scale (GNEM-FAS). RESULTS: Profound upper and lower muscle weakness was measured using hand-held dynamometry in a characteristic pattern, previously described. Functional tests and clinician-reported outcomes demonstrated the consequence of muscle weakness on physical functioning. CONCLUSIONS: The characteristic pattern of upper and lower muscle weakness associated with GNEM and the resulting functional limitations can be reliably measured using these clinical outcome assessments of muscle strength and function.

Published
2017

5. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

Author

Vita, Giuseppe, Rizzo, Vincenzo, Russo, Massimo, Mazzeo, Anna, Gentile, Luca, Berk, John L, Brueckner, Caitlin, Lazzari, Victoria, Wiesman, Janice, DeLong, Douglas, Victory, Jennifer, Dalton, James, May, John, Gilmore, Catherine, Attarian, Shahram, Diallo, Saran, Delmont, Emilien, Pouget, Jean, Verschueren, Annie, Grapperon, Aude-Marie, Campana-Salort, Emmanuelle, Conceição, Isabel M, Lopes, Ana, Lamas, Filipa, Neves, Carlos, Castro, Jose, Pereira, Pedro, Castro, Isabel, Franco, Ana, Santos, Miguel Oliveira, de Azevedo Coutinho, Conceição, Falcao de Campos, Catarina, Coelho, Teresa, Hipólito Reis, Antonio, Correia, Nuno, Perez, Javier M, Martins da Silva, Ana, Alves, Cristina, Cardoso, Marcio, Valdrez, Katia, Monte, Julia R, Pessoa, Bernardete, Guimaraes, Nadia, Freitas, Monica, Ramalho, Joana, Ferreira, Natalia, Kuzume, Daisuke, Tard, Celine, Waucquier, Nawal, Rougeaux, Isabelle, Brice, Sylvie, Kasprzyk, Emmanuelle, Elrezzi, Elise, Meguig, Sayah, Hachulla, Eric, Gauvain, Clement, Migaud-Chervy, Maria-Claire, Deplanque, Dominique, Jozefowicz, Elsa, Lebellec, Loic, Adams, David, Balaya-Gouraya, Line, Jehan Lacour, Nathalie, Bournane, Halima, Martin, Nathalie, Elabed, Mongia, Sacko, Niamey, Boubrit, Yasmine, Gaouar, Amina, Rakotondratafika, Fetra, Théaudin-Saliou, Marie, Cauquil-Michon, Cécile, Labeyrie, Celine, Not, Adeline, Al-Salameh, Abdallah, Lecoq, Anne-Lise, Stephant, Maeva, Echaniz-Laguna, Andoni, Becquemont, Laurent, Beaudonnet, Guillemette, Algalarrondo, Vincent, Eliahou, Ludivine, Slama, Michel S, Rousseau, Antoine, Signate, Aissatou, Berthelot, Emeline, Inamo, Jocelyn, Planté-Bordeneuve, Violaine, Vervoitte, Laetitia, Focseneanu, Cecile, Gendre, Thierry, Arrouasse, Raphaele, Ayache, Samar S., Ernande, Laura, Le Corvoisier, Philippe, Salhi, Hayet, Choumert, Ariane, Ehinger, Vincent, Ruiz, Julie, Charlin, Cyril, Megelin, Thomas, Brannagan III, Thomas H, Fayerman, Raisy, Kim, Arreum, Paras, Allan, Gonzalez, Leidy J, Tsang, Steven, Wajnsztajn, Fernanda, Shije, Jeffrey, Ulane, Christina, Kleyman, Inna, Weimer, Louis, Cioroiu, Comana, Lambrianides, Sakis, Abu-Manneh, Rana, Zamba-Papanicolaou, Eleni, Agathangelou, Petros, Leonidou, Eleni, Tada, Satoshi, Fujita, Akemi, Nagai, Masahiro, Ando, Rina, Hosokawa, Yuko, Yamanishi, Yuki, Overcash, J. Scott, Giardino, Elena, Boyer, Leslie, Dang, Lien, Le, An, Nguyen, Tyler, Giang, Lien, Sellers, Peter, Tran, Leyla, Truong, Nghi, Vinas, Maita, Hrkman, Nicole, Miller, Sarah, Nguyen, David, Smith, Ashley, Pu, Helen, Li, Steve, Vuong, Thao, Dioso, Holly, Green, Sinikka, Lee, Kia, Chu, Hanh, Waters, Michael, Coskun, Derya J, Zepeda, Karla A, O'Riordan, William, Obici, Laura, Cortese, Andrea, Lozza, Alessandro, Merlini, Giampaolo, Rosti, Vittorio, Sabatelli, Mario, Bisogni, Giulia, Bernardo, Daniela, Luigetti, Marco, Di Paolantonio, Andrea, Guglielmino, Valeria, Romano, Angela, Nienhuis, Hans, Bulthuis-Kuiper, Janita, Kristen, Arnt V, Gerk, Olga, Ulbricht, Hannah, Taylor, Lenka, Meyle, Eva, Kleinschmidt, Natalia, Meyrath, David, Noe-Schwenn, Simone, Meng, Ulrike, Bauer, Ralf, aus dem Siepen, Fabian, Hein, Selina, Takahashi, Tetsuya, Oshita, Tomohiko, Koujin, Yoko, Neshige, Shuichiro, Nezu, Tomohisa, Segawa, Akiko, Ueno, Hiroki, Morino, Hiroyuki, Campistol, Josep M, Rodas Marin, Lida Maria, Blasco Pelicano, Josep Miquel, Dávila, Lucía Galán, Palacios, Marta, Pytel Cordoba, Vanesa, Guerrero Sola, Antonio, Horga, Alejandro, García Feijoo, Julián, Perez de Isla, Leopoldo, Marques Júnior, Wilson, Moscardini, Mariana, Litcanov, Debora Cristina, Viera Lima, Ana Flavia, Rodrigues, Leonardo, Marques Coutinho, Barbara, Moreira, Carolina Lavigne, Daccach Marques, Vanessa, Munoz Beamud, Francisco, Gragera Martínez, Álvaro, Borrachero, Cristina, Losada López, Inés Asunción, Cisneros Barroso, Eugenia, Rodríguez Rodríguez, Adrián, Sanz, Monica, Rigo Oliver, Elena, González Moreno, Juan, Gamez Martinez, Jose M, Descals, Cristina, Uson, Mercedes, Jose Vega, Francisco, Figuerola, Antoni, Montala, Carles, Waddington-Cruz, Márcia, Dias da Silva, Moises, Gervais de Santa Rosa, Renata, Pinto, Luiz Felipe, Pinto, Marcus Vinicius, Cardoso Berensztejn, Amanda, Barroso, Fabio, Lautre, Andrea, Orellana, Lucas G, González-Duarte Briseño, Maria Alejandra, Cárdenas-Soto, Karla, Jiménez López, Brenda Poled, Pérez-Castañeda, Sandra Lorena, Cantú Brito, Carlos Gerardo, Rivera de la Parra, David, Hernandez Reyes, Jose Pablo, del Mar Saniger Alba, Maria, Criollo Mora, Elia, Parman, Yesim, Rezzan, Kus Jülide, Sahin, Erdi, Serbest, Nail G, Durmus, Hacer, Cakar, Arman, Tugal Tutkun, Nuriye Ilknur, Karamursel, Sacit, Elitok, Ali, Sirin Inan, Nermin G, Altinkurt, Emre, Polydefkis, Michael, Ye, Jing, Allen, Adriane C, Chaudhry, Vinay, Jarrett, Raquel, Bressler, Neil, Burks, Kathleen L, Liu, Qingfeng, Khoshnoodi, Mohammad, Judge, Daniel P, Vista, Geno, Shah, Syed Mahmood, Hamaguchi, Hirotoshi, Oda, Junko, Fukase, Emi, Taniguchi, Ikuko, Oda, Tetsuya, Endo, Hironobu, Shimomura, Masahiro, Katanazaka, Kimitaka, Koto, Shusuke, Nakano, Takahiro, Scheid, Christof, Zueiter, Andreas, Pester, Lars, Walter, Doreen, Özdemir, Betül, Frenzel, Lukas F, Holtick, Udo, Oh, Jeeyoung, Kim, Hee Jin, Shin, Hyun Jin, Choi, Kyomin, Yamashita, Taro, Ueda, Mitsuharu, Masuda, Teruaki, Misumi, Yohei, Ueda, Akihiko, Nakahara, Keiichi, Yorita, Akiko, Tsuruhisa, Seiko, Taniwaki, Takayuki, Harada, Masaya, Moritaka, Taiga, Sakurada, Naonori, Mauricio, Elizabeth A, Baskin, Amber, Dimberg, Elliot, Dispenzieri, Angela, Fonder, Amie, Hobbs, Miriam, Russell, Stephen J, Dyck, Peter, Gonsalves, Wilson, Leung, Nelson, Witzig, Thomas E, Zeldenrust, Steven R, Hwa, Lisa, Kapoor, Prashant, Kumar, Shaji K, Lin, Yi, Lust, John A, Rajkumar, Vincent S, Dingli, David, Gertz, Morie A, Go, Ronald, Hayman, Suzanne R, Dalia, Samir, Carrillo, Esmeralda, Gorevic, Peter, Mason, Garnette, Chao, Chi-Chao, Lee, Ming-Jen, Su, Jen-Jen, Hsieh, Sung-Tsang, Tsai, Li-Kai, Yeh, Shin-Joe, Yang, Chih-Chao, Ajroud-Driss, Senda Ajroud-Driss, Casey, Patricia, Joslin, Benjamin C, Freimer, Miriam, Sankey, Alison, Kenepp, Amanda, Heintzman, Sarah, LoRusso, Samantha, Hokezu, Youichi, Kim, Byoung-Joon, Kim, JuHyeon, Lee, Ga Yeon, Cho, Eun Bin, Jeon, Eun-Seok, Min, Ju-Hong, Seok, Jin Myoung, Lee, Hye Lim, Park, Jae Hong, Sekijima, Yoshiki, Miyazawa, Chinatsu, Kato, Nagaaki, Kishida, Dai, Hineno, Akiyo, Kodaira, Minori, Yoshinaga, Tsuneaki, Miyahara, Teruyoshi, Imai, Akira, Matsumoto, Kazuhiko, Lin, Kon-Ping, Lee, Yi-Chung, Wixner, Jonas, Falk, Malin, Pilebro, Bjorn, Suhr, Ole, Lindqvist, Per, Soderberg, Karin, Pedrosa-Domellöf, Fatima, Anan, Intissar, Nordh, Erik, Tournev, Ivaylo, Zhelyazkova-Glaveeva, Sashka, Cherneva, Zheyna, Sarafov, Staiko, Chamova, Teodora, Cherninkova-Gopina, Sylvia, Schmidt, Hartmut H, Friebel, Frauke, Zibert, Andree, Mihailovic, Natasa, Schubert, Friederike, Vorona, Elena, Lahme, Larissa, Huesing-Kabar, Anna, Schilling, Matthias, Kabar, Iyad, Gillmore, Julian D, Martinez-Naharro, Ana, Chacko, Liza, Cohen, Oliver, Law, Steven, Rezk, Tamer, Lachmann, Helen J, Quan, Dianna, Blume, Brianna, Dixon, Stacy, Low, Soon Chai, Chan, Soo Looi, Lim, He Eng Li, Goh, Khean Jin, Mezei, Michelle M, Kraus, Deborah, Jack, Kristin, Wade, N. Kevin, Lopate, Glenn, Zwijack, Brittany, Florence, Julaine, Sommerville, R. Brian, Stewart, Graeme, Ryder, Julie, Mekhael, Linda, Taylor, Mark, Suan, Daniel, Wells, Karen, Stone, Paula, Itoya, Amenze, Owusu-Sekyere, Mercy, Thai, Desmond, Chahine, Ilonah, Pedrosa, Salve, Do, Thi Hoa (Therese), González-Duarte, Alejandra, Kyriakides, Theodoros, Ajroud-Driss, Senda, Mauricio, Elizabeth, Brannagan, Thomas H, III, Aldinc, Emre, Wang, Jing Jing, White, Matthew T, Vest, John, Berber, Erhan, and Sweetser, Marianne T

Published
2021
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6. Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

Author

Findlay, Andrew, Wein, Nicolas, Kaminoh, Yuuki, Taylor, Laura, Dunn, Diane, Mendell, Jerry, King, Wendy, Pestronk, Alan, Florence, Julaine, Mathews, Katherine, Finkel, Richard, Swoboda, Kathryn, Howard, Michael, Day, John, Nicolas, Aurélie, Le Rumeur, Elisabeth, Weiss, Robert, Flanigan, Kevin, and McDonald, Craig

Subjects
Adolescent, Adult, Aged, Child, Child, Preschool, Cohort Studies, Databases, Genetic, Exons, Genetic Therapy, Humans, Male, Middle Aged, Muscular Dystrophy, Duchenne, Phenotype, Predictive Value of Tests, Treatment Outcome, Young Adult
Abstract

OBJECTIVE: Exon-skipping therapies aim to convert Duchenne muscular dystrophy (DMD) into less severe Becker muscular dystrophy (BMD) by altering pre-mRNA splicing to restore an open reading frame, allowing translation of an internally deleted and partially functional dystrophin protein. The most common single exon deletion-exon 45 (Δ45)-may theoretically be treated by skipping of either flanking exon (44 or 46). We sought to predict the impact of these by assessing the clinical severity in dystrophinopathy patients. METHODS: Phenotypic data including clinical diagnosis, age at wheelchair use, age at loss of ambulation, and presence of cardiomyopathy were analyzed from 41 dystrophinopathy patients containing equivalent in-frame deletions. RESULTS: As expected, deletions of either exons 45 to 47 (Δ45-47) or exons 45 to 48 (Δ45-48) result in BMD in 97% (36 of 37) of subjects. Unexpectedly, deletion of exons 45 to 46 (Δ45-46) is associated with the more severe DMD phenotype in 4 of 4 subjects despite an in-frame transcript. Notably, no patients with a deletion of exons 44 to 45 (Δ44-45) were found within the United Dystrophinopathy Project database, and this mutation has only been reported twice before, which suggests an ascertainment bias attributable to a very mild phenotype. INTERPRETATION: The observation that Δ45-46 patients have typical DMD suggests that the conformation of the resultant protein may result in protein instability or altered binding of critical partners. We conclude that in DMD patients with Δ45, skipping of exon 44 and multiexon skipping of exons 46 and 47 (or exons 46-48) are better potential therapies than skipping of exon 46 alone.

Published
2015

7. Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy.

Author

Connolly, Anne, Malkus, Elizabeth, Mendell, Jerry, Flanigan, Kevin, Miller, J, Schierbecker, Jeanine, Siener, Catherine, Golumbek, Paul, Zaidman, Craig, Johnson, Linda, Nicorici, Alina, Karachunski, Peter, Day, John, Kelecic, Jason, Lowes, Linda, Alfano, Lindsay, Darras, Basil, Kang, Peter, Quigley, Janet, Pasternak, Amy, Florence, Julaine, and McDonald, Craig

Subjects
Duchenne muscular dystrophy, corticosteroids, non-ambulatory, pulmonary function, quality of life, strength, Adolescent, Adrenal Cortex Hormones, Adult, Child, Disability Evaluation, Hand, Humans, Male, Muscular Dystrophy, Duchenne, Reproducibility of Results, Treatment Outcome, Young Adult
Abstract

INTRODUCTION: Therapeutic trials in Duchenne muscular dystrophy (DMD) often exclude non-ambulatory individuals. Here we establish optimal and reliable assessments in a multicenter trial. METHODS: Non-ambulatory boys/men with DMD (N = 91; 16.7 ± 4.5 years of age) were assessed by trained clinical evaluators. Feasibility (percentage completing task) and reliability [intraclass correlation coefficients (ICCs) between morning and afternoon tests] were measured. RESULTS: Forced vital capacity (FVC), assessed in all subjects, showed a mean of 47.8 ± 22% predicted (ICC 0.98). Brooke Upper Extremity Functional Rating (Brooke) and Egen Klassifikation (EK) scales in 100% of subjects showed ICCs ranging from 0.93 to 0.99. Manual muscle testing, range of motion, 9-hole peg test, and Jebsen-Taylor Hand Function Test (JHFT) demonstrated varied feasibility (99% to 70%), with ICCs ranging from 0.99 to 0.64. We found beneficial effects of different forms of corticosteroids for the Brooke scale, percent predicted FVC, and hand and finger strength. CONCLUSIONS: Reliable assessment of non-ambulatory boys/men with DMD is possible. Clinical trials will have to consider corticosteroid use.

Published
2015

8. A Genome-Wide Association Study of Myasthenia Gravis

Author

Renton, Alan E, Pliner, Hannah A, Provenzano, Carlo, Evoli, Amelia, Ricciardi, Roberta, Nalls, Michael A, Marangi, Giuseppe, Abramzon, Yevgeniya, Arepalli, Sampath, Chong, Sean, Hernandez, Dena G, Johnson, Janel O, Bartoccioni, Emanuela, Scuderi, Flavia, Maestri, Michelangelo, Gibbs, J Raphael, Errichiello, Edoardo, Chiò, Adriano, Restagno, Gabriella, Sabatelli, Mario, Macek, Mark, Scholz, Sonja W, Corse, Andrea, Chaudhry, Vinay, Benatar, Michael, Barohn, Richard J, McVey, April, Pasnoor, Mamatha, Dimachkie, Mazen M, Rowin, Julie, Kissel, John, Freimer, Miriam, Kaminski, Henry J, Sanders, Donald B, Lipscomb, Bernadette, Massey, Janice M, Chopra, Manisha, Howard, James F, Koopman, Wilma J, Nicolle, Michael W, Pascuzzi, Robert M, Pestronk, Alan, Wulf, Charlie, Florence, Julaine, Blackmore, Derrick, Soloway, Aimee, Siddiqi, Zaeem, Muppidi, Srikanth, Wolfe, Gil, Richman, David, Mezei, Michelle M, Jiwa, Theresa, Oger, Joel, Drachman, Daniel B, and Traynor, Bryan J

Subjects
Rare Diseases, Genetics, Neurosciences, Autoimmune Disease, Myasthenia Gravis, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Adult, Age of Onset, CTLA-4 Antigen, Case-Control Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, HLA-DQ alpha-Chains, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, United States, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ImportanceMyasthenia gravis is a chronic, autoimmune, neuromuscular disease characterized by fluctuating weakness of voluntary muscle groups. Although genetic factors are known to play a role in this neuroimmunological condition, the genetic etiology underlying myasthenia gravis is not well understood.ObjectiveTo identify genetic variants that alter susceptibility to myasthenia gravis, we performed a genome-wide association study.Design, setting, and participantsDNA was obtained from 1032 white individuals from North America diagnosed as having acetylcholine receptor antibody-positive myasthenia gravis and 1998 race/ethnicity-matched control individuals from January 2010 to January 2011. These samples were genotyped on Illumina OmniExpress single-nucleotide polymorphism arrays. An independent cohort of 423 Italian cases and 467 Italian control individuals were used for replication.Main outcomes and measuresWe calculated P values for association between 8,114,394 genotyped and imputed variants across the genome and risk for developing myasthenia gravis using logistic regression modeling. A threshold P value of 5.0×10(-8) was set for genome-wide significance after Bonferroni correction for multiple testing.ResultsIn the overall case-control cohort, we identified association signals at CTLA4 (rs231770; P=3.98×10(-8); odds ratio, 1.37; 95% CI, 1.25-1.49), HLA-DQA1 (rs9271871; P=1.08×10(-8); odds ratio, 2.31; 95% CI, 2.02-2.60), and TNFRSF11A (rs4263037; P=1.60×10(-9); odds ratio, 1.41; 95% CI, 1.29-1.53). These findings replicated for CTLA4 and HLA-DQA1 in an independent cohort of Italian cases and control individuals. Further analysis revealed distinct, but overlapping, disease-associated loci for early- and late-onset forms of myasthenia gravis. In the late-onset cases, we identified 2 association peaks: one was located in TNFRSF11A (rs4263037; P=1.32×10(-12); odds ratio, 1.56; 95% CI, 1.44-1.68) and the other was detected in the major histocompatibility complex on chromosome 6p21 (HLA-DQA1; rs9271871; P=7.02×10(-18); odds ratio, 4.27; 95% CI, 3.92-4.62). Association within the major histocompatibility complex region was also observed in early-onset cases (HLA-DQA1; rs601006; P=2.52×10(-11); odds ratio, 4.0; 95% CI, 3.57-4.43), although the set of single-nucleotide polymorphisms was different from that implicated among late-onset cases.Conclusions and relevanceOur genetic data provide insights into aberrant cellular mechanisms responsible for this prototypical autoimmune disorder. They also suggest that clinical trials of immunomodulatory drugs related to CTLA4 and that are already Food and Drug Administration approved as therapies for other autoimmune diseases could be considered for patients with refractory disease.

Published
2015

9. Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Author

Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo, Connolly, Anne, Day, John, Flanigan, Kevin, Goemans, Nathalie, Jones, Kristi, Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James, Russman, Barry, Ryan, Monique, Tulinius, Mar, Voit, Thomas, Moore, Steven, Lee Sweeney, H, Abresch, Richard, Coleman, Kim, Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan, Henricson, Erik, Barth, Jay, Elfring, Gary, Reha, Allen, Spiegel, Robert, Odonnell, Michael, Peltz, Stuart, and McDonald, Craig

Subjects
Duchenne muscular dystrophy, genetic, nonsense mutation, orphan, pediatric, Adolescent, Child, Child, Preschool, Codon, Nonsense, Dose-Response Relationship, Drug, Double-Blind Method, Dystrophin, Humans, International Cooperation, Male, Muscular Dystrophy, Duchenne, Outcome Assessment, Health Care, Oxadiazoles, Prospective Studies, Time Factors, Walking
Abstract

INTRODUCTION: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. METHODS: Randomized, double-blind, placebo-controlled study; males ≥ 5 years with nm-dystrophinopathy received study drug orally 3 times daily, ataluren 10, 10, 20 mg/kg (N=57); ataluren 20, 20, 40 mg/kg (N=60); or placebo (N=57) for 48 weeks. The primary endpoint was change in 6-Minute Walk Distance (6MWD) at Week 48. RESULTS: Ataluren was generally well tolerated. The primary endpoint favored ataluren 10, 10, 20 mg/kg versus placebo; the week 48 6MWD Δ=31.3 meters, post hoc P=0.056. Secondary endpoints (timed function tests) showed meaningful differences between ataluren 10, 10, 20 mg/kg, and placebo. CONCLUSIONS: As the first investigational new drug targeting the underlying cause of nm-dystrophinopathy, ataluren offers promise as a treatment for this orphan genetic disorder with high unmet medical need.

Published
2014

10. One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development.

Author

Connolly, Anne, Florence, Julaine, Cradock, Mary, Eagle, Michelle, Flanigan, Kevin, Karachunski, Peter, Darras, Basil, Bushby, Kate, Malkus, Elizabeth, Golumbek, Paul, Zaidman, Craig, Miller, J, Mendell, Jerry, and McDonald, Craig

Subjects
Bayley-III, Duchenne muscular dystrophy, clinical trial outcomes, infant development, Child Development, Child, Preschool, Cognition, Follow-Up Studies, Humans, Infant, Language, Language Tests, Longitudinal Studies, Male, Motor Activity, Motor Skills, Muscular Dystrophy, Duchenne
Abstract

BACKGROUND: The pathogenesis of Duchenne muscular dystrophy starts before birth. Despite this, clinical trials exclude young boys because traditional outcome measures rely on cooperation. We recently used the Bayley-III Scales of Infant and Toddler Development to study 24 infants and boys with Duchenne muscular dystrophy. Clinical evaluators at six centers were trained and certified to perform the Bayley-III. Here, we report 6- and 12-month follow-up of two subsets of these boys. PATIENTS: Nineteen boys (1.9 ± 0.8 years) were assessed at baseline and 6 months. Twelve boys (1.5 ± 0.8 years) were assessed at baseline, 6, and 12 months. RESULTS: Gross motor scores were lower at baseline compared with published controls (6.2 ± 1.7; normal 10 ± 3; P < 0.0001) and revealed a further declining trend to 5.7 ± 1.7 (P = 0.20) at 6 months. Repeated measures analysis of the 12 boys monitored for 12 months revealed that gross motor scores, again low at baseline (6.6 ± 1.7; P < 0.0001), declined at 6 months (5.9 ± 1.8) and further at 12 months (5.3 ± 2.0) (P = 0.11). Cognitive and language scores were lower at baseline compared with normal children (range, P = 0.002-1 year (P = 0.05). CONCLUSION: Development can reliably be measured in infants and young boys with Duchenne muscular dystrophy across time using the Bayley-III. Power calculations using these data reveal that motor development may be used as an outcome measure.

Published
2014

11. The 6‐minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicenter study

Author

McDonald, Craig M, Henricson, Erik K, Abresch, R Ted, Florence, Julaine, Eagle, Michelle, Gappmaier, Eduard, Glanzman, Allan M, Group, PTC124‐GD‐007‐DMD Study, Spiegel, Robert, Barth, Jay, Elfring, Gary, Reha, Allen, and Peltz, Stuart W

Subjects
Intellectual and Developmental Disabilities (IDD), Health Services, Pediatric, Duchenne/ Becker Muscular Dystrophy, Muscular Dystrophy, Rare Diseases, Clinical Trials and Supportive Activities, Brain Disorders, Clinical Research, Disease Progression, Exercise Test, Heart Rate, Humans, Male, Muscular Dystrophy, Duchenne, Outcome Assessment, Health Care, Oxadiazoles, Reproducibility of Results, Time Factors, Walking, 6-minute walk test, ambulation, Duchenne muscular dystrophy, energy expenditure index, muscular dystrophy, myometry, natural history, PedsQL, timed function test, PTC124-GD-007-DMD Study Group, Medical and Health Sciences, Neurology & Neurosurgery
Abstract

IntroductionAn international clinical trial enrolled 174 ambulatory males ≥5 years old with nonsense mutation Duchenne muscular dystrophy (nmDMD). Pretreatment data provide insight into reliability, concurrent validity, and minimal clinically important differences (MCIDs) of the 6-minute walk test (6MWT) and other endpoints.MethodsScreening and baseline evaluations included the 6-minute walk distance (6MWD), timed function tests (TFTs), quantitative strength by myometry, the PedsQL, heart rate-determined energy expenditure index, and other exploratory endpoints.ResultsThe 6MWT proved feasible and reliable in a multicenter context. Concurrent validity with other endpoints was excellent. The MCID for 6MWD was 28.5 and 31.7 meters based on 2 statistical distribution methods.ConclusionsThe ratio of MCID to baseline mean is lower for 6MWD than for other endpoints. The 6MWD is an optimal primary endpoint for Duchenne muscular dystrophy (DMD) clinical trials that are focused therapeutically on preservation of ambulation and slowing of disease progression.

Published
2013

12. THE 6‐minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study

Author

Mcdonald, Craig M, Henricson, Erik K, Abresch, R Ted, Florence, Julaine M, Eagle, Michelle, Gappmaier, Eduard, Glanzman, Allan M, Group, PTC124‐GD‐007‐DMD Study, Spiegel, Robert, Barth, Jay, Elfring, Gary, Reha, Allen, and Peltz, Stuart

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Clinical Research, Muscular Dystrophy, Pediatric, Duchenne/ Becker Muscular Dystrophy, Clinical Trials and Supportive Activities, Rare Diseases, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adolescent, Child, Child, Preschool, Double-Blind Method, Electromyography, Exercise Test, Glucocorticoids, Hand Strength, Humans, Longitudinal Studies, Male, Muscular Dystrophy, Duchenne, Observation, Outcome Assessment, Health Care, Oxadiazoles, Predictive Value of Tests, Time Factors, Walking, ambulation, Duchenne muscular dystrophy, dystrophinopathy, myometry, natural history, prediction of loss of function, timed function tests, 6-minute walk test, PTC124-GD-007-DMD Study Group, Medical and Health Sciences, Neurology & Neurosurgery, Biological sciences, Biomedical and clinical sciences
Abstract

IntroductionDuchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren. Placebo arm data (N = 57) provided insight into the natural history of the 6-minute walk test (6MWT) and other endpoints.MethodsEvaluations performed every 6 weeks included the 6-minute walk distance (6MWD), timed function tests (TFTs), and quantitative strength using hand-held myometry.ResultsBaseline age (≥7 years), 6MWD, and selected TFT performance are strong predictors of decline in ambulation (Δ6MWD) and time to 10% worsening in 6MWD. A baseline 6MWD of

Published
2013

13. Assessment of disease progression in dysferlinopathy: A 1-year cohort study

Author

Moore, Ursula, Jacobs, Marni, James, Meredith K., Mayhew, Anna G., Fernandez-Torron, Roberto, Feng, Jia, Cnaan, Avital, Eagle, Michelle, Bettinson, Karen, Rufibach, Laura E., Lofra, Robert Muni, Blamire, Andrew M., Carlier, Pierre G., Mittal, Plavi, Lowes, Linda Pax, Alfano, Lindsay, Rose, Kristy, Duong, Tina, Berry, Katherine M., Montiel-Morillo, Elena, Pedrosa-Hernández, Irene, Holsten, Scott, Sanjak, Mohammed, Ashida, Ai, Sakamoto, Chikako, Tateishi, Takayuki, Yajima, Hiroyuki, Canal, Aurélie, Ollivier, Gwenn, Decostre, Valerie, Mendez, Juan Bosco, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Shierbecker, Jeanine, Florence, Julaine M., Vandevelde, Bruno, DeWolf, Brittney, Hutchence, Meghan, Gee, Richard, Prügel, Juliana, Maron, Elke, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C., Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shinʼichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Díaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, and Straub, Volker

Published
2019
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14. Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network

Author

Connolly, Anne M., Florence, Julaine M., Cradock, Mary M., Malkus, Elizabeth C., Schierbecker, Jeanine R., Siener, Catherine A., Wulf, Charlie O., Anand, Pallavi, Golumbek, Paul T., Zaidman, Craig M., Philip Miller, J., Lowes, Linda P., Alfano, Lindsay N., Viollet-Callendret, Laurence, Flanigan, Kevin M., Mendell, Jerry R., McDonald, Craig M., Goude, Erica, Johnson, Linda, Nicorici, Alina, Karachunski, Peter I., Day, John W., Dalton, Joline C., Farber, Janey M., Buser, Karen K., Darras, Basil T., Kang, Peter B., Riley, Susan O., Shriber, Elizabeth, Parad, Rebecca, Bushby, Kate, and Eagle, Michelle

Published
2013
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19. Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

Author

Shieh, Perry B, primary, Elfring, Gary, additional, Trifillis, Panayiota, additional, Santos, Claudio, additional, Peltz, Stuart W, additional, Parsons, Julie A, additional, Apkon, Susan, additional, Darras, Basil T, additional, Campbell, Craig, additional, McDonald, Craig M, additional, Barohn, Richard J, additional, Bertini, Enrico, additional, Bushby, Kate, additional, Chabrol, Brigitte, additional, Ciafaloni, Emma, additional, Columer, Jaume, additional, Comi, Giacomi Pietro, additional, Connolly, Anne, additional, Finkel, Richard S, additional, Flanigan, Kevin M, additional, Goemans, Nathalie, additional, Guglieri, Michela, additional, Iannaccone, Susan T, additional, Jones, Kristi J, additional, Kaufmann, Petra, additional, Kirschner, Janbernd, additional, Mah, Jean K, additional, Mathews, Katherine, additional, Mercuri, Eugenio, additional, Muntoni, Francesco, additional, Nevo, Yoram, additional, Osorio, Andrés Nascimento, additional, Péréon, Yann, additional, Quinlivan, Rosaline, additional, Renfroe, J. Ben, additional, Russman, Barry, additional, Ryan, Monique, additional, Sampson, Jacinda, additional, Schara, Ulrike, additional, Selby, Kathryn, additional, Sejersen, Thomas, additional, Sproule, Douglas M, additional, Sweeney, H. Lee, additional, Tulinius, Már, additional, Vilchez, Juan J, additional, Vita, Giuseppe, additional, Voit, Thomas, additional, Burns-Wechsler, Stephanie, additional, Wong, Brenda, additional, Abresch, Ted, additional, Henricson, Erik K, additional, Coleman, Kim, additional, Eagle, Michelle, additional, Florence, Julaine, additional, Gappmaier, Ed, additional, McDonald, Craig, additional, Abdel-Hamid, Hoda Z, additional, Bloetzer, Clemens, additional, Butterfield, Russell J, additional, Chae, Jong-Hee, additional, Dastgir, Jahannaz, additional, Desguerre, Isabelle, additional, Escobar, Raul G, additional, Finanger, Erika, additional, Heydemann, Peter, additional, Hughes, Imelda, additional, Kaminska, Anna, additional, Karachunski, Peter, additional, Kudr, Martin, additional, Lotze, Timothy, additional, de Queiroz Campos Araujo, Alexandra Prufer, additional, Dutra de Resende, Maria Bernadete, additional, Tennekoon, Gihan, additional, Topaloglu, Haluk, additional, Torricelli, Ricardo Erazo, additional, Alfano, Lindsay N, additional, James, Meredith K, additional, Lowes, Linda, additional, Mayhew, Anna, additional, Mazzone, Elena S, additional, Nelson, Leslie, additional, and Rose, Kristy J, additional

Published
2021
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21. Clinical and genetic characterization of manifesting carriers of DMD mutations

Author

Soltanzadeh, Payam, Friez, Michael J., Dunn, Diane, von Niederhausern, Andrew, Gurvich, Olga L., Swoboda, Kathryn J., Sampson, Jacinda B., Pestronk, Alan, Connolly, Anne M., Florence, Julaine M., Finkel, Richard S., Bönnemann, Carsten G., Medne, Livija, Mendell, Jerry R., Mathews, Katherine D., Wong, Brenda L., Sussman, Michael D., Zonana, Jonathan, Kovak, Karen, Gospe, Sidney M., Jr., Gappmaier, Eduard, Taylor, Laura E., Howard, Michael T., Weiss, Robert B., and Flanigan, Kevin M.

Published
2010
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22. Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases

Author

Duong, Tina, primary, Krosschell, Kristin J., additional, James, Meredith K., additional, Nelson, Leslie, additional, Alfano, Lindsay N., additional, Eichinger, Katy, additional, Mazzone, Elena, additional, Rose, Kristy, additional, Lowes, Linda P., additional, Mayhew, Anna, additional, Florence, Julaine, additional, King, Wendy, additional, Senesac, Claudia R., additional, and Eagle, Michelle, additional

Published
2021
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24. RASCH ANALYSIS OF CLINICAL OUTCOME MEASURES IN SPINAL MUSCULAR ATROPHY

Author

CANO, STEFAN J., MAYHEW, ANNA, GLANZMAN, ALLAN M., KROSSCHELL, KRISTIN J., SWOBODA, KATHRYN J., MAIN, MARION, STEFFENSEN, BIRGIT F., BÉRARD, CAROLE, GIRARDOT, FRANÇOISE, PAYAN, CHRISTINE A.M., MERCURI, EUGENIO, MAZZONE, ELENA, ELSHEIKH, BAKRI, FLORENCE, JULAINE, HYNAN, LINDA S., IANNACCONE, SUSAN T., NELSON, LESLIE L., PANDYA, SHREE, ROSE, MICHAEL, SCOTT, CHARLES, SADJADI, REZA, YORE, MACKENSIE A., JOYCE, CYNTHIA, and KISSEL, JOHN T.

Published
2014
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26. Efficacy of minocycline in patients with amyotrophic lateral sclerosis: a phase III randomised trial

Author

Gordon, Paul H, Moore, Dan H, Miller, Robert G, Florence, Julaine M, Verheijde, Joseph L, Doorish, Carolyn, Hilton, Joan F, Spitalny, G Mark, MacArthur, Robert B, Mitsumoto, Hiroshi, Neville, Hans E, Boylan, Kevin, Mozaffar, Tahseen, Belsh, Jerry M, Ravits, John, Bedlack, Richard S, Graves, Michael C, McCluskey, Leo F, Barohn, Richard J, and Tandan, Rup

Published
2007
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27. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

Author

Adams, David, primary, Polydefkis, Michael, additional, González-Duarte, Alejandra, additional, Wixner, Jonas, additional, Kristen, Arnt V, additional, Schmidt, Hartmut H, additional, Berk, John L, additional, Losada López, Inés Asunción, additional, Dispenzieri, Angela, additional, Quan, Dianna, additional, Conceição, Isabel M, additional, Slama, Michel S, additional, Gillmore, Julian D, additional, Kyriakides, Theodoros, additional, Ajroud-Driss, Senda, additional, Waddington-Cruz, Márcia, additional, Mezei, Michelle M, additional, Planté-Bordeneuve, Violaine, additional, Attarian, Shahram, additional, Mauricio, Elizabeth, additional, Brannagan, Thomas H, additional, Ueda, Mitsuharu, additional, Aldinc, Emre, additional, Wang, Jing Jing, additional, White, Matthew T, additional, Vest, John, additional, Berber, Erhan, additional, Sweetser, Marianne T, additional, Coelho, Teresa, additional, Vita, Giuseppe, additional, Rizzo, Vincenzo, additional, Russo, Massimo, additional, Mazzeo, Anna, additional, Gentile, Luca, additional, Brueckner, Caitlin, additional, Lazzari, Victoria, additional, Wiesman, Janice, additional, DeLong, Douglas, additional, Victory, Jennifer, additional, Dalton, James, additional, May, John, additional, Gilmore, Catherine, additional, Diallo, Saran, additional, Delmont, Emilien, additional, Pouget, Jean, additional, Verschueren, Annie, additional, Grapperon, Aude-Marie, additional, Campana-Salort, Emmanuelle, additional, Lopes, Ana, additional, Lamas, Filipa, additional, Neves, Carlos, additional, Castro, Jose, additional, Pereira, Pedro, additional, Castro, Isabel, additional, Franco, Ana, additional, Santos, Miguel Oliveira, additional, de Azevedo Coutinho, Conceição, additional, Falcao de Campos, Catarina, additional, Hipólito Reis, Antonio, additional, Correia, Nuno, additional, Perez, Javier M, additional, Martins da Silva, Ana, additional, Alves, Cristina, additional, Cardoso, Marcio, additional, Valdrez, Katia, additional, Monte, Julia R, additional, Pessoa, Bernardete, additional, Guimaraes, Nadia, additional, Freitas, Monica, additional, Ramalho, Joana, additional, Ferreira, Natalia, additional, Kuzume, Daisuke, additional, Tard, Celine, additional, Waucquier, Nawal, additional, Rougeaux, Isabelle, additional, Brice, Sylvie, additional, Kasprzyk, Emmanuelle, additional, Elrezzi, Elise, additional, Meguig, Sayah, additional, Hachulla, Eric, additional, Gauvain, Clement, additional, Migaud-Chervy, Maria-Claire, additional, Deplanque, Dominique, additional, Jozefowicz, Elsa, additional, Lebellec, Loic, additional, Adams, David, additional, Balaya-Gouraya, Line, additional, Jehan Lacour, Nathalie, additional, Bournane, Halima, additional, Martin, Nathalie, additional, Elabed, Mongia, additional, Sacko, Niamey, additional, Boubrit, Yasmine, additional, Gaouar, Amina, additional, Rakotondratafika, Fetra, additional, Théaudin-Saliou, Marie, additional, Cauquil-Michon, Cécile, additional, Labeyrie, Celine, additional, Not, Adeline, additional, Al-Salameh, Abdallah, additional, Lecoq, Anne-Lise, additional, Stephant, Maeva, additional, Echaniz-Laguna, Andoni, additional, Becquemont, Laurent, additional, Beaudonnet, Guillemette, additional, Algalarrondo, Vincent, additional, Eliahou, Ludivine, additional, Rousseau, Antoine, additional, Signate, Aissatou, additional, Berthelot, Emeline, additional, Inamo, Jocelyn, additional, Vervoitte, Laetitia, additional, Focseneanu, Cecile, additional, Gendre, Thierry, additional, Arrouasse, Raphaele, additional, Ayache, Samar S., additional, Ernande, Laura, additional, Le Corvoisier, Philippe, additional, Salhi, Hayet, additional, Choumert, Ariane, additional, Ehinger, Vincent, additional, Ruiz, Julie, additional, Charlin, Cyril, additional, Megelin, Thomas, additional, Brannagan III, Thomas H, additional, Fayerman, Raisy, additional, Kim, Arreum, additional, Paras, Allan, additional, Gonzalez, Leidy J, additional, Tsang, Steven, additional, Wajnsztajn, Fernanda, additional, Shije, Jeffrey, additional, Ulane, Christina, additional, Kleyman, Inna, additional, Weimer, Louis, additional, Cioroiu, Comana, additional, Lambrianides, Sakis, additional, Abu-Manneh, Rana, additional, Zamba-Papanicolaou, Eleni, additional, Agathangelou, Petros, additional, Leonidou, Eleni, additional, Tada, Satoshi, additional, Fujita, Akemi, additional, Nagai, Masahiro, additional, Ando, Rina, additional, Hosokawa, Yuko, additional, Yamanishi, Yuki, additional, Overcash, J. Scott, additional, Giardino, Elena, additional, Boyer, Leslie, additional, Dang, Lien, additional, Le, An, additional, Nguyen, Tyler, additional, Giang, Lien, additional, Sellers, Peter, additional, Tran, Leyla, additional, Truong, Nghi, additional, Vinas, Maita, additional, Hrkman, Nicole, additional, Miller, Sarah, additional, Nguyen, David, additional, Smith, Ashley, additional, Pu, Helen, additional, Li, Steve, additional, Vuong, Thao, additional, Dioso, Holly, additional, Green, Sinikka, additional, Lee, Kia, additional, Chu, Hanh, additional, Waters, Michael, additional, Coskun, Derya J, additional, Zepeda, Karla A, additional, O'Riordan, William, additional, Obici, Laura, additional, Cortese, Andrea, additional, Lozza, Alessandro, additional, Merlini, Giampaolo, additional, Rosti, Vittorio, additional, Sabatelli, Mario, additional, Bisogni, Giulia, additional, Bernardo, Daniela, additional, Luigetti, Marco, additional, Di Paolantonio, Andrea, additional, Guglielmino, Valeria, additional, Romano, Angela, additional, Nienhuis, Hans, additional, Bulthuis-Kuiper, Janita, additional, Gerk, Olga, additional, Ulbricht, Hannah, additional, Taylor, Lenka, additional, Meyle, Eva, additional, Kleinschmidt, Natalia, additional, Meyrath, David, additional, Noe-Schwenn, Simone, additional, Meng, Ulrike, additional, Bauer, Ralf, additional, aus dem Siepen, Fabian, additional, Hein, Selina, additional, Takahashi, Tetsuya, additional, Oshita, Tomohiko, additional, Koujin, Yoko, additional, Neshige, Shuichiro, additional, Nezu, Tomohisa, additional, Segawa, Akiko, additional, Ueno, Hiroki, additional, Morino, Hiroyuki, additional, Campistol, Josep M, additional, Rodas Marin, Lida Maria, additional, Blasco Pelicano, Josep Miquel, additional, Dávila, Lucía Galán, additional, Palacios, Marta, additional, Pytel Cordoba, Vanesa, additional, Guerrero Sola, Antonio, additional, Horga, Alejandro, additional, García Feijoo, Julián, additional, Perez de Isla, Leopoldo, additional, Marques Júnior, Wilson, additional, Moscardini, Mariana, additional, Litcanov, Debora Cristina, additional, Viera Lima, Ana Flavia, additional, Rodrigues, Leonardo, additional, Marques Coutinho, Barbara, additional, Moreira, Carolina Lavigne, additional, Daccach Marques, Vanessa, additional, Munoz Beamud, Francisco, additional, Gragera Martínez, Álvaro, additional, Borrachero, Cristina, additional, Cisneros Barroso, Eugenia, additional, Rodríguez Rodríguez, Adrián, additional, Sanz, Monica, additional, Rigo Oliver, Elena, additional, González Moreno, Juan, additional, Gamez Martinez, Jose M, additional, Descals, Cristina, additional, Uson, Mercedes, additional, Jose Vega, Francisco, additional, Figuerola, Antoni, additional, Montala, Carles, additional, Dias da Silva, Moises, additional, Gervais de Santa Rosa, Renata, additional, Pinto, Luiz Felipe, additional, Pinto, Marcus Vinicius, additional, Cardoso Berensztejn, Amanda, additional, Barroso, Fabio, additional, Lautre, Andrea, additional, Orellana, Lucas G, additional, González-Duarte Briseño, Maria Alejandra, additional, Cárdenas-Soto, Karla, additional, Jiménez López, Brenda Poled, additional, Pérez-Castañeda, Sandra Lorena, additional, Cantú Brito, Carlos Gerardo, additional, Rivera de la Parra, David, additional, Hernandez Reyes, Jose Pablo, additional, del Mar Saniger Alba, Maria, additional, Criollo Mora, Elia, additional, Parman, Yesim, additional, Rezzan, Kus Jülide, additional, Sahin, Erdi, additional, Serbest, Nail G, additional, Durmus, Hacer, additional, Cakar, Arman, additional, Tugal Tutkun, Nuriye Ilknur, additional, Karamursel, Sacit, additional, Elitok, Ali, additional, Sirin Inan, Nermin G, additional, Altinkurt, Emre, additional, Ye, Jing, additional, Allen, Adriane C, additional, Chaudhry, Vinay, additional, Jarrett, Raquel, additional, Bressler, Neil, additional, Burks, Kathleen L, additional, Liu, Qingfeng, additional, Khoshnoodi, Mohammad, additional, Judge, Daniel P, additional, Vista, Geno, additional, Shah, Syed Mahmood, additional, Hamaguchi, Hirotoshi, additional, Oda, Junko, additional, Fukase, Emi, additional, Taniguchi, Ikuko, additional, Oda, Tetsuya, additional, Endo, Hironobu, additional, Shimomura, Masahiro, additional, Katanazaka, Kimitaka, additional, Koto, Shusuke, additional, Nakano, Takahiro, additional, Scheid, Christof, additional, Zueiter, Andreas, additional, Pester, Lars, additional, Walter, Doreen, additional, Özdemir, Betül, additional, Frenzel, Lukas F, additional, Holtick, Udo, additional, Oh, Jeeyoung, additional, Kim, Hee Jin, additional, Shin, Hyun Jin, additional, Choi, Kyomin, additional, Yamashita, Taro, additional, Masuda, Teruaki, additional, Misumi, Yohei, additional, Ueda, Akihiko, additional, Nakahara, Keiichi, additional, Yorita, Akiko, additional, Tsuruhisa, Seiko, additional, Taniwaki, Takayuki, additional, Harada, Masaya, additional, Moritaka, Taiga, additional, Sakurada, Naonori, additional, Mauricio, Elizabeth A, additional, Baskin, Amber, additional, Dimberg, Elliot, additional, Fonder, Amie, additional, Hobbs, Miriam, additional, Russell, Stephen J, additional, Dyck, Peter, additional, Gonsalves, Wilson, additional, Leung, Nelson, additional, Witzig, Thomas E, additional, Zeldenrust, Steven R, additional, Hwa, Lisa, additional, Kapoor, Prashant, additional, Kumar, Shaji K, additional, Lin, Yi, additional, Lust, John A, additional, Rajkumar, Vincent S, additional, Dingli, David, additional, Gertz, Morie A, additional, Go, Ronald, additional, Hayman, Suzanne R, additional, Dalia, Samir, additional, Carrillo, Esmeralda, additional, Gorevic, Peter, additional, Mason, Garnette, additional, Chao, Chi-Chao, additional, Lee, Ming-Jen, additional, Su, Jen-Jen, additional, Hsieh, Sung-Tsang, additional, Tsai, Li-Kai, additional, Yeh, Shin-Joe, additional, Yang, Chih-Chao, additional, Ajroud-Driss, Senda Ajroud-Driss, additional, Casey, Patricia, additional, Joslin, Benjamin C, additional, Freimer, Miriam, additional, Sankey, Alison, additional, Kenepp, Amanda, additional, Heintzman, Sarah, additional, LoRusso, Samantha, additional, Hokezu, Youichi, additional, Kim, Byoung-Joon, additional, Kim, JuHyeon, additional, Lee, Ga Yeon, additional, Cho, Eun Bin, additional, Jeon, Eun-Seok, additional, Min, Ju-Hong, additional, Seok, Jin Myoung, additional, Lee, Hye Lim, additional, Park, Jae Hong, additional, Sekijima, Yoshiki, additional, Miyazawa, Chinatsu, additional, Kato, Nagaaki, additional, Kishida, Dai, additional, Hineno, Akiyo, additional, Kodaira, Minori, additional, Yoshinaga, Tsuneaki, additional, Miyahara, Teruyoshi, additional, Imai, Akira, additional, Matsumoto, Kazuhiko, additional, Lin, Kon-Ping, additional, Lee, Yi-Chung, additional, Falk, Malin, additional, Pilebro, Bjorn, additional, Suhr, Ole, additional, Lindqvist, Per, additional, Soderberg, Karin, additional, Pedrosa-Domellöf, Fatima, additional, Anan, Intissar, additional, Nordh, Erik, additional, Tournev, Ivaylo, additional, Zhelyazkova-Glaveeva, Sashka, additional, Cherneva, Zheyna, additional, Sarafov, Staiko, additional, Chamova, Teodora, additional, Cherninkova-Gopina, Sylvia, additional, Friebel, Frauke, additional, Zibert, Andree, additional, Mihailovic, Natasa, additional, Schubert, Friederike, additional, Vorona, Elena, additional, Lahme, Larissa, additional, Huesing-Kabar, Anna, additional, Schilling, Matthias, additional, Kabar, Iyad, additional, Martinez-Naharro, Ana, additional, Chacko, Liza, additional, Cohen, Oliver, additional, Law, Steven, additional, Rezk, Tamer, additional, Lachmann, Helen J, additional, Blume, Brianna, additional, Dixon, Stacy, additional, Low, Soon Chai, additional, Chan, Soo Looi, additional, Lim, He Eng Li, additional, Goh, Khean Jin, additional, Kraus, Deborah, additional, Jack, Kristin, additional, Wade, N. Kevin, additional, Lopate, Glenn, additional, Zwijack, Brittany, additional, Florence, Julaine, additional, Sommerville, R. Brian, additional, Stewart, Graeme, additional, Ryder, Julie, additional, Mekhael, Linda, additional, Taylor, Mark, additional, Suan, Daniel, additional, Wells, Karen, additional, Stone, Paula, additional, Itoya, Amenze, additional, Owusu-Sekyere, Mercy, additional, Thai, Desmond, additional, Chahine, Ilonah, additional, Pedrosa, Salve, additional, and Do, Thi Hoa (Therese), additional

Published
2021
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30. The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures

Author

Henricson, Erik K., Abresch, Ted R., Cnaan, Avital, Hu, Fengming, Duong, Tina, Arrieta, Adrienne, Han, Jay, Escolar, Diana M., Florence, Julaine M., Clemens, Paula R., Hoffman, Eric P., and McDonald, Craig M.

Published
2013
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31. LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy

Author

Flanigan, Kevin M., Ceco, Ermelinda, Lamar, Kay-Marie, Kaminoh, Yuuki, Dunn, Diane M., Mendell, Jerry R., King, Wendy M., Pestronk, Alan, Florence, Julaine M., Mathews, Katherine D., Finkel, Richard S., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Day, John W., McDonald, Craig, McNally, Elizabeth M., and Weiss, Robert B.

Published
2013
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35. Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

Author

Flanigan, Kevin M., Dunn, Diane M., von Niederhausern, Andrew, Soltanzadeh, Payam, Howard, Michael T., Sampson, Jacinda B., Swoboda, Kathryn J., Bromberg, Mark B., Mendell, Jerry R., Taylor, Laura E., Anderson, Christine B., Pestronk, Alan, Florence, Julaine M., Connolly, Anne M., Mathews, Katherine D., Wong, Brenda, Finkel, Richard S., Bonnemann, Carsten G., Day, John W., McDonald, Craig, and Weiss, Robert B.

Published
2011
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37. A Randomized Study of Alglucosidase Alfa in Late-Onset Pompeʼs Disease

Author

van der Ploeg, Ans T., Clemens, Paula R., Corzo, Deyanira, Escolar, Diana M., Florence, Julaine, Groeneveld, Geert Jan, Herson, Serge, Kishnani, Priya S., Laforet, Pascal, Lake, Stephen L., Lange, Dale J., Leshner, Robert T., Mayhew, Jill E., Morgan, Claire, Nozaki, Kenkichi, Park, Dorothy J., Pestronk, Alan, Rosenbloom, Barry, Skrinar, Alison, van Capelle, Carine I., van der Beek, Nadine A., Wasserstein, Melissa, and Zivkovic, Sasa A.

Published
2010
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38. Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort

Author

Flanigan, Kevin M., Dunn, Diane M., Niederhausern, Andrew von, Soltanzadeh, Payam, Gappmaier, Eduard, Howard, Michael T., Sampson, Jacinda B., Mendell, Jerry R., Wall, Cheryl, King, Wendy M., Pestronk, Alan, Florence, Julaine M., Connolly, Anne M., Mathews, Katherine D., Stephan, Carrie M., Laubenthal, Karla S., Wong, Brenda L., Morehart, Paula J., Meyer, Amy, Finkel, Richard S., Bonnemann, Carsten G., Medne, Livija, Day, John W., Dalton, Joline C., Margolis, Marcia K., Hinton, Veronica J., and Weiss, Robert B.

Published
2009
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40. Limb-Girdle Muscular Dystrophy in the United States

Author

Moore, Steven A., Shilling, Christopher J., Westra, Steven, Wall, Cheryl, Wicklund, Matthew P., Stolle, Catherine, Brown, Charlotte A., Michele, Daniel E., Piccolo, Federica, Winder, Thomas L., Stence, Aaron, Barresi, Rita, King, Nick, King, Wendy, Florence, Julaine, Campbell, Kevin P., Fenichel, Gerald M., Stedman, Hansell H., Kissel, John T., Griggs, Robert C., Pandya, Shree, Mathews, Katherine D., Pestronk, Alan, Serrano, Carmen, Darvish, Daniel, and Mendell, Jerry R.

Published
2006
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42. Linkage mapping of the spinal muscular atrophy gene

Author

Burghes, Arthur H. M., Ingraham, Susan E., Kóte-Jarai, Zsofia, Rosenfeld, Scott, Herta, Nancy, Nadkarni, Nitin, DiDonato, Christine J., Carpten, John, Hurko, Orest, Florence, Julaine, Moxley, Richard T., Cobben, Jan M., and Mendell, Jerry R.

Published
1994
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43. Assessment of disease progression in dysferlinopathy. A 1-year cohort study

Author

Jain Foundation, Moore, Ursula, Jacobs, Marni, James, Meredith K., Mayhew, Anna G., Fernández-Torrón, Roberto, Feng, Jia, Cnaan, Avital, Eagle, Michelle, Bettinson, Karen, Rufibach, Laura E., Muni Lofra, Robert, Blamire, Andrew M., Carlier, Pierre G., Mittal, Plavi, Lowes, Linda Pax, Alfano, Lindsay, Rose, Kristy, Duong, Tina, Berry, Katherine M., Montiel-Morillo, Elena, Pedrosa-Hernández, Irene, Holsten, Scott, Sanjak, Mohammed, Ashida, Ai, Sakamoto, Chikako, Tateishi, Takayuki, Yajima, Hiroyuki, Canal, Aurélie, Ollivier, Gwenn, Decostre, Valerie, Méndez, Juan Bosco, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Shierbecker, Jeanine, Florence, Julaine M., Vandevelde, Bruno, DeWolf, Brittney, Hutchence, Meghan, Gee, Richard, Prügel, Juliana, Maron, Elke, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Rocha, Carolina Tesi, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Matthew, Harms, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C., Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin'ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Díaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry W., Bushby, Kate, Straub, Volker, Jain Foundation, Moore, Ursula, Jacobs, Marni, James, Meredith K., Mayhew, Anna G., Fernández-Torrón, Roberto, Feng, Jia, Cnaan, Avital, Eagle, Michelle, Bettinson, Karen, Rufibach, Laura E., Muni Lofra, Robert, Blamire, Andrew M., Carlier, Pierre G., Mittal, Plavi, Lowes, Linda Pax, Alfano, Lindsay, Rose, Kristy, Duong, Tina, Berry, Katherine M., Montiel-Morillo, Elena, Pedrosa-Hernández, Irene, Holsten, Scott, Sanjak, Mohammed, Ashida, Ai, Sakamoto, Chikako, Tateishi, Takayuki, Yajima, Hiroyuki, Canal, Aurélie, Ollivier, Gwenn, Decostre, Valerie, Méndez, Juan Bosco, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Shierbecker, Jeanine, Florence, Julaine M., Vandevelde, Bruno, DeWolf, Brittney, Hutchence, Meghan, Gee, Richard, Prügel, Juliana, Maron, Elke, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Rocha, Carolina Tesi, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Matthew, Harms, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C., Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin'ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Díaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry W., Bushby, Kate, and Straub, Volker

Abstract

[Objective] To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year., [Methods] One hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. Baseline, 6-month, and 1-year assessments included adapted North Star Ambulatory Assessment (a-NSAA), Motor Function Measure (MFM-20), timed function tests, 6-minute walk test (6MWT), Brooke scale, Jebsen test, manual muscle testing, and hand-held dynamometry. Patients also completed the ACTIVLIM questionnaire. Change in each measure over 6 months and 1 year was calculated and compared between disease severity (ambulant [mild, moderate, or severe based on a-NSAA score] or nonambulant [unable to complete a 10-meter walk]) and clinical diagnosis., [Results] The functional a-NSAA test was the most sensitive to deterioration for ambulant patients overall. The a-NSAA score was the most sensitive test in the mild and moderate groups, while the 6MWT was most sensitive in the severe group. The 10-meter walk test was the only test showing significant change across all ambulant severity groups. In nonambulant patients, the MFM domain 3, wrist flexion strength, and pinch grip were most sensitive. Progression rates did not differ by clinical diagnosis. Power calculations determined that 46 moderately affected patients are required to determine clinical effectiveness for a hypothetical 1-year clinical trial based on the a-NSAA as a clinical endpoint., [Conclusion] Certain functional outcome measures can detect changes over 6 months and 1 year in dysferlinopathy and potentially be useful in monitoring progression in clinical trials., [ClinicalTrials.gov identifier] NCT01676077.

Published
2019

44. A comparison of daily and alternate-day prednisone therapy in the treatment of Duchenne muscular dystrophy

Author

Fenichel, Gerald M., Mendell, Jerry R., Moxley, Richard T., III, Griggs, Robert C., Brooke, Michael H., Miller, J. Phillip, Pestronk, Alan, Robison, Jenny, King, Wendy, Signore, Linda, Pandya, Shree, Florence, Julaine, Schierbecker, Janine, and Wilson, Bradley

Subjects
Duchenne muscular dystrophy -- Drug therapy, Prednisone -- Dosage and administration, Health
Abstract

Duchenne muscular dystrophy (DMD) is an inherited disorder in which affected individuals either completely lack or have a serious abnormality of a muscle protein that has been dubbed dystrophin. Since the gene for DMD is carried on the X chromosome, the disorder is sex-linked and the overwhelming majority of victims are boys. Curiously, boys with DMD are born with normal muscle strength which then deteriorates as they age. Previous research has shown that the drug prednisone, given on a daily basis, increases the muscle strength of patients with DMD. Prednisone is not without side effects, however, and a study was conducted to determine if it might be possible to drop the prednisone doses to every other day without losing significant efficacy. This study continued the treatment of 103 boys who had participated in the original study showing prednisone effectiveness. The 34 boys who had been taking placebo and served as controls in the original study were now placed on an alternate-day schedule of prednisone therapy. An additional 31 boys were switched from a daily schedule to the alternate-day schedule. The remaining boys continued on the daily schedule. The muscle strength of the patients was measured regularly for the six-month study period. Examinations revealed that the alternate-day schedule improved the muscle strength of the 34 boys who had just begun therapy, but resulted in a decline in the strength of the boys who were switched from the daily schedule. For the first three months, the rate of improvement of the boys beginning treatment on the alternate-day schedule was similar to the improvement of patients on the daily schedule. However, this improvement was not sustained; during the next three months it declined significantly, compared with the progress of the boys receiving daily doses. The side effects of the prednisone treatment were similar in the daily and the alternate-day groups. The daily-dose regimen is therefore more effective than the alternate-day schedule and causes little or no difference in the likelihood of side effects. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

45. The IPANEMA Study: Top Line Results from an Investigator-Initiated Multi-site Late-onset Pompe Disease Prevalence Study (P5.4-005)

Author

Wencel, Marie, primary, Goyal, Namita, additional, Shaibani, Aziz, additional, Dimachkie, Mazen, additional, Johnson, Nicholas, additional, Trivedi, Jaya, additional, Gutmann, Laurie, additional, Wicklund, Matthew, additional, Bandyopadhyay, Sankar, additional, Genge, Angela, additional, Freimer, Miriam, additional, Pestronk, Alan, additional, Florence, Julaine, additional, Karam, Chafic, additional, Ralph, Jeffrey, additional, Habib, Ali, additional, and Mozaffar, Tahseen, additional

Published
2019
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46. Electrical impedance myography for reducing sample size in Duchenne muscular dystrophy trials.

Author

Leitner, Melanie L., Kapur, Kush, Darras, Basil T., Yang, Michele, Wong, Brenda, Dalle Pazze, Laura, Florence, Julaine, Buck, Martin, Freedman, Laura, Bohorquez, Jose, Rutkove, Seward, and Zaidman, Craig

Subjects
DUCHENNE muscular dystrophy, ELECTRIC impedance, TREATMENT effectiveness, ARM, LEG
Abstract

Objective: To evaluate the sensitivity of electrical impedance myography (EIM) to disease progression in both ambulatory and non‐ambulatory boys with DMD. Methods and Participants: A non‐blinded, longitudinal cohort study of 29 ambulatory and 15 non‐ambulatory boys with DMD and age‐similar healthy boys. Subjects were followed for up to 1 year and assessed using the Myolex® mViewTM EIM system as part of a multicenter study. Results: In the ambulatory group, EIM 100 kHz resistance values showed significant change compared to the healthy boys. For example, in lower extremity muscles, the average change in EIM 100 kHz resistance values over 12 months led to an estimated effect size of 1.58. Based on these results, 26 DMD patients/arm would be needed for a 12‐month clinical trial assuming a 50% treatment effect. In non‐ambulatory boys, EIM changes were greater in upper limb muscles. For example, biceps at 100kHz resistance gave an estimated effect size of 1.92 at 12 months. Based on these results, 18 non‐ambulatory DMD patients/arm would be needed for a 12‐month clinical trial assuming a 50% treatment effect. Longitudinal changes in the 100 kHz resistance values for the ambulatory boys correlated with the longitudinal changes in the timed supine‐to‐stand test. EIM was well‐tolerated throughout the study. Interpretation: This study supports that EIM 100 kHz resistance is sensitive to DMD progression in both ambulatory and non‐ambulatory boys. Given the technology's ease of use and broad age range of utility it should be employed as an exploratory endpoint in future clinical therapeutic trials in DMD. Trial Registration: Clincialtrials.gov registration #NCT02340923 [ABSTRACT FROM AUTHOR]

Published
2020
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47. Association Study of Exon Variants in the NF-kappa B and TGF beta Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Author

Bello, Luca, Punetha, Jaya, Gordish Dressman, Heather, Giri, Mamta, Hoffman, Eric P, Barp, Andrea, Vianello, Sara, Pegoraro, Elena, Flanigan, Kevin M., Weiss, Robert B., Spitali, Pietro, Aartsma Rus, Annemieke, Straub, Volker, Lochmüller, Hanns, Muntoni, Francesco, Zaharieva, Irina, Ferlini, Alessandra, Mercuri, Eugenio Maria, Tuffery Giraud, Sylvie, Claustres, Mireille, Mcdonald, Craig M., Dunn, Diane M., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Sampson, Jacinda B., Bromberg, Mark B., Butterfield, Russell, Kerr, Lynne, Pestronk, Alan, Florence, Julaine M., Connolly, Anne, Lopate, Glenn, Golumbek, Paul, Schierbecker, Jeanine, Malkus, Betsy, Renna, Renee, Siener, Catherine, Finkel, Richard S., Bonnemann, Carsten G., Medne, Livija, Glanzman, Allan M., Flickinger, Jean, Mendell, Jerry R., King, Wendy M., Lowes, Linda, Alfano, Lindsay, Mathews, Katherine D., Stephan, Carrie, Laubenthal, Karla, Baldwin, Kris, Wong, Brenda, Morehart, Paula, Meyer, Amy, Day, John W., Naughton, Cameron E., Margolis, Marcia, Cnaan, Avital, Abresch, Richard T., Henricson, Erik K., Morgenroth, Lauren P., Duong, Tina, Chidambaranathan, V. Viswanathan, Biggar, W. Douglas, Mcadam, Laura C., Mah, Jean, Tulinius, Mar, Leshner, Robert, Rocha, Carolina Tesi, Thangarajh, Mathula, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel Hamid, Hoda, Connolly, Anne M., Teasley, Jean, Bertorini, Tulio E., North, Kathryn, Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Karachunski, Peter, Bodensteiner, John B., Universita degli Studi di Padova, Department of Pediatric Nephrology, Maria Fareri Children's Hospital, Valhalla, New York, New York Medical College (NYMC), Human Genetics, Great Ormond Street Hospital for Children [London] (GOSH), Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, Università degli Studi di Ferrara (UniFE), Università cattolica del Sacro Cuore [Milano] (Unicatt), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Department of Neurology, Newcastle University [Newcastle], Department of Neurosciences [Padova, Italy], University of Padova [Padova, Italy], Massachusetts General Hospital [Boston], King‘s College London, Division of Pediatric Neurology, Cincinnati Children's Hospital Medical Center, Child Development & Exercise Center, Royal Children's Hospital, Washington University in Saint Louis (WUSTL), Institute for Neuromuscular Research, The University of Sydney, Rothamsted Research, University of Alberta, Department of Pediatrics, Feinberg School of Medicine, Northwestern University [Evanston]-Northwestern University [Evanston]-Northwestern University, Stanford School of Medicine [Stanford], Stanford Medicine, and Stanford University-Stanford University

Subjects
0301 basic medicine, Candidate gene, Genetics, Genetics (clinical), Duchenne muscular dystrophy, [SDV]Life Sciences [q-bio], Genome-wide association study, Dystrophin, 0302 clinical medicine, Transforming Growth Factor beta, Osteopontin, Muscular Dystrophy, Muscular dystrophy, Modifier, Child, Exome, biology, NF-kappa B, Exons, Single Nucleotide, Adolescent, European Continental Ancestry Group, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, White People, NO, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Report, medicine, Humans, CD40 Antigens, Polymorphism, Glucocorticoids, Alleles, Case-Control Studies, Genes, Modifier, Genome-Wide Association Study, Latent TGF-beta Binding Proteins, Muscular Dystrophy, Duchenne, Mutation, medicine.disease, Duchenne, 030104 developmental biology, Genes, biology.protein, 030217 neurology & neurosurgery
Abstract

International audience; The expressivity of Mendelian diseases can be influenced by factors independent from the pathogenic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of ambulation (LoA) varies between individuals whose DMD mutations all abolish dystrophin expression. This suggests the existence of trans-acting variants in modifier genes. Common single nucleotide polymorphisms (SNPs) in candidate genes (SPP1, encoding osteopontin, and LTBP4, encoding latent transforming growth factor β [TGFβ]-binding protein 4) have been established as DMD modifiers. We performed a genome-wide association study of age at LoA in a sub-cohort of European or European American ancestry (n = 109) from the Cooperative International Research Group Duchenne Natural History Study (CINRG-DNHS). We focused on protein-altering variants (Exome Chip) and included glucocorticoid treatment as a covariate. As expected, due to the small population size, no SNPs displayed an exome-wide significant p value (< 1.8 × 10-6). Subsequently, we prioritized 438 SNPs in the vicinities of 384 genes implicated in DMD-related pathways, i.e., the nuclear-factor-κB and TGFβ pathways. The minor allele at rs1883832, in the 5'-untranslated region of CD40, was associated with earlier LoA (p = 3.5 × 10-5). This allele diminishes the expression of CD40, a co-stimulatory molecule for T cell polarization. We validated this association in multiple independent DMD cohorts (United Dystrophinopathy Project, Bio-NMD, and Padova, total n = 660), establishing this locus as a DMD modifier. This finding points to cell-mediated immunity as a relevant pathogenetic mechanism and potential therapeutic target in DMD.

Published
2016

49. Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45

Author

Findlay, Andrew R, Wein, Nicolas, Kaminoh, Yuuki, Taylor, Laura E, Dunn, Diane M, Mendell, Jerry R, King, Wendy M, Pestronk, Alan, Florence, Julaine M, Mathews, Katherine D, Finkel, Richard S, Swoboda, Kathryn J, Howard, Michael T, Day, John W, McDonald, Craig, Nicolas, Aurélie, Le Rumeur, Elisabeth, Weiss, Robert B, Flanigan, Kevin M, Departments of Pediatrics and Neurology, Ohio State University [Columbus] (OSU), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), R01 NS043264, NIH National Institute of Neurologic Disorders and Stroke, 16810, Association Française contre les Myopathies, and Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Subjects
Adult, Male, Adolescent, [SDV]Life Sciences [q-bio], Exons, Genetic Therapy, Middle Aged, Article, Cohort Studies, Muscular Dystrophy, Duchenne, Young Adult, Phenotype, Treatment Outcome, Predictive Value of Tests, Child, Preschool, Databases, Genetic, Humans, Child, ComputingMilieux_MISCELLANEOUS, Aged
Abstract

Exon-skipping therapies aim to convert Duchenne muscular dystrophy (DMD) into less severe Becker muscular dystrophy (BMD) by altering pre-mRNA splicing to restore an open reading frame, allowing translation of an internally deleted and partially functional dystrophin protein. The most common single exon deletion-exon 45 (Δ45)-may theoretically be treated by skipping of either flanking exon (44 or 46). We sought to predict the impact of these by assessing the clinical severity in dystrophinopathy patients.Phenotypic data including clinical diagnosis, age at wheelchair use, age at loss of ambulation, and presence of cardiomyopathy were analyzed from 41 dystrophinopathy patients containing equivalent in-frame deletions.As expected, deletions of either exons 45 to 47 (Δ45-47) or exons 45 to 48 (Δ45-48) result in BMD in 97% (36 of 37) of subjects. Unexpectedly, deletion of exons 45 to 46 (Δ45-46) is associated with the more severe DMD phenotype in 4 of 4 subjects despite an in-frame transcript. Notably, no patients with a deletion of exons 44 to 45 (Δ44-45) were found within the United Dystrophinopathy Project database, and this mutation has only been reported twice before, which suggests an ascertainment bias attributable to a very mild phenotype.The observation that Δ45-46 patients have typical DMD suggests that the conformation of the resultant protein may result in protein instability or altered binding of critical partners. We conclude that in DMD patients with Δ45, skipping of exon 44 and multiexon skipping of exons 46 and 47 (or exons 46-48) are better potential therapies than skipping of exon 46 alone.

Published
2015

50. Outcome Reliability in Non Ambulatory Boys/Men with Duchenne Muscular Dystrophy

Author

Connolly, Anne M., Malkus, Elizabeth C., Mendell, Jerry R., Flanigan, Kevin M., Miller, J Philip, Schierbecker, Jeanine R., Siener, Catherine A., Golumbek, Paul T., Zaidman, Craig M., McDonald, Craig M., Johnson, Linda, Nicorici, Alina, Karachunski, Peter I., Day, John W., Kelecic, Jason M., Lowes, Linda P, Alfano, Lindsay N., Darras, Basil T., Kang, Peter B., Quigley, Janet, Pasternak, Amy E., and Florence, Julaine M.

Subjects
Adult, Male, Muscular Dystrophy, Duchenne, Disability Evaluation, Young Adult, Treatment Outcome, Adolescent, Adrenal Cortex Hormones, Humans, Reproducibility of Results, Child, Hand, Article
Abstract

Therapeutic trials in Duchenne muscular dystrophy (DMD) often exclude non-ambulatory individuals. Here we establish optimal and reliable assessments in a multicenter trial.Non-ambulatory boys/men with DMD (N = 91; 16.7 ± 4.5 years of age) were assessed by trained clinical evaluators. Feasibility (percentage completing task) and reliability [intraclass correlation coefficients (ICCs) between morning and afternoon tests] were measured.Forced vital capacity (FVC), assessed in all subjects, showed a mean of 47.8 ± 22% predicted (ICC 0.98). Brooke Upper Extremity Functional Rating (Brooke) and Egen Klassifikation (EK) scales in 100% of subjects showed ICCs ranging from 0.93 to 0.99. Manual muscle testing, range of motion, 9-hole peg test, and Jebsen-Taylor Hand Function Test (JHFT) demonstrated varied feasibility (99% to 70%), with ICCs ranging from 0.99 to 0.64. We found beneficial effects of different forms of corticosteroids for the Brooke scale, percent predicted FVC, and hand and finger strength.Reliable assessment of non-ambulatory boys/men with DMD is possible. Clinical trials will have to consider corticosteroid use.

Published
2015

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