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2. Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines

Author

Baxi, Emily G, Thompson, Terri, Li, Jonathan, Kaye, Julia A, Lim, Ryan G, Wu, Jie, Ramamoorthy, Divya, Lima, Leandro, Vaibhav, Vineet, Matlock, Andrea, Frank, Aaron, Coyne, Alyssa N, Landin, Barry, Ornelas, Loren, Mosmiller, Elizabeth, Thrower, Sara, Farr, S Michelle, Panther, Lindsey, Gomez, Emilda, Galvez, Erick, Perez, Daniel, Meepe, Imara, Lei, Susan, Mandefro, Berhan, Trost, Hannah, Pinedo, Louis, Banuelos, Maria G, Liu, Chunyan, Moran, Ruby, Garcia, Veronica, Workman, Michael, Ho, Richie, Wyman, Stacia, Roggenbuck, Jennifer, Harms, Matthew B, Stocksdale, Jennifer, Miramontes, Ricardo, Wang, Keona, Venkatraman, Vidya, Holewenski, Ronald, Sundararaman, Niveda, Pandey, Rakhi, Manalo, Danica-Mae, Donde, Aneesh, Huynh, Nhan, Adam, Miriam, Wassie, Brook T, Vertudes, Edward, Amirani, Naufa, Raja, Krishna, Thomas, Reuben, Hayes, Lindsey, Lenail, Alex, Cerezo, Aianna, Luppino, Sarah, Farrar, Alanna, Pothier, Lindsay, Prina, Carolyn, Morgan, Todd, Jamil, Arish, Heintzman, Sarah, Jockel-Balsarotti, Jennifer, Karanja, Elizabeth, Markway, Jesse, McCallum, Molly, Joslin, Ben, Alibazoglu, Deniz, Kolb, Stephen, Ajroud-Driss, Senda, Baloh, Robert, Heitzman, Daragh, Miller, Tim, Glass, Jonathan D, Patel-Murray, Natasha Leanna, Yu, Hong, Sinani, Ervin, Vigneswaran, Prasha, Sherman, Alexander V, Ahmad, Omar, Roy, Promit, Beavers, Jay C, Zeiler, Steven, Krakauer, John W, Agurto, Carla, Cecchi, Guillermo, Bellard, Mary, Raghav, Yogindra, Sachs, Karen, Ehrenberger, Tobias, Bruce, Elizabeth, Cudkowicz, Merit E, Maragakis, Nicholas, Norel, Raquel, Van Eyk, Jennifer E, Finkbeiner, Steven, Berry, James, Sareen, Dhruv, Thompson, Leslie M, Fraenkel, Ernest, and Svendsen, Clive N

Subjects
Stem Cell Research, Rare Diseases, Stem Cell Research - Induced Pluripotent Stem Cell, ALS, Clinical Research, Neurodegenerative, Genetics, Neurosciences, Human Genome, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Brain Disorders, Neurological, Generic health relevance, Good Health and Well Being, Amyotrophic Lateral Sclerosis, Cell Line, Humans, Induced Pluripotent Stem Cells, Motor Neurons, Psychology, Cognitive Sciences, Neurology & Neurosurgery
Abstract

Answer ALS is a biological and clinical resource of patient-derived, induced pluripotent stem (iPS) cell lines, multi-omic data derived from iPS neurons and longitudinal clinical and smartphone data from over 1,000 patients with ALS. This resource provides population-level biological and clinical data that may be employed to identify clinical-molecular-biochemical subtypes of amyotrophic lateral sclerosis (ALS). A unique smartphone-based system was employed to collect deep clinical data, including fine motor activity, speech, breathing and linguistics/cognition. The iPS spinal neurons were blood derived from each patient and these cells underwent multi-omic analytics including whole-genome sequencing, RNA transcriptomics, ATAC-sequencing and proteomics. The intent of these data is for the generation of integrated clinical and biological signatures using bioinformatics, statistics and computational biology to establish patterns that may lead to a better understanding of the underlying mechanisms of disease, including subgroup identification. A web portal for open-source sharing of all data was developed for widespread community-based data analytics.

Published
2022

4. Multicenter expanded access program for access to investigational products for amyotrophic lateral sclerosis

Author

Neel, Dylan V., primary, Baselga‐Garriga, Clara, additional, Benson, Molly, additional, Keegan, Mackenzie, additional, Chase, Marianne, additional, D'Agostino, Derek, additional, Drake, Kristin, additional, Hagar, Jennifer Linn, additional, Hasenoehrl, Meredith Gibbons, additional, Kulesa‐Kelley, Jennifer, additional, Leite, Alex, additional, Mohapatra, Silpa, additional, Portaro, Susanna Marie, additional, Pothier, Lindsay M., additional, Rosenthal, Jesse, additional, Sherman, Alexander V., additional, Yu, Hong, additional, McCaffrey, Alexandra, additional, Ho, Doreen, additional, Luppino, Sarah, additional, Bedlack, Richard, additional, Heitzman, Daragh, additional, Ajroud‐Driss, Senda, additional, Katz, Jonathan, additional, Felice, Kevin, additional, Whitaker, Charles, additional, Ladha, Shafeeq, additional, Alameda, Gustavo, additional, Locatelli, Eduardo, additional, Qureshi, Irfan A., additional, Hotchkin, Michael T., additional, Hayden, Michael R., additional, Cudkowicz, Merit E., additional, Babu, Suma, additional, Berry, James D., additional, and Paganoni, Sabrina, additional

Published
2024
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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. Electrodiagnostic subtyping in Guillain–Barré syndrome patients in the International Guillain–Barré Outcome Study.

Author

Arends, Samuel, Drenthen, Judith, de Koning, Laura, van den Bergh, Peter, Hadden, Robert D. M., Kuwabara, Satoshi, Reisin, Ricardo C., Shahrizaila, Nortina, Ajroud‐Driss, Senda, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Bertorini, Tulio, Brannagan, Thomas H., Cavaletti, Guido, Chao, Chi‐Chao, Chavada, Govind, Dillmann, Klaus‐Ulrich, Dimachkie, Mazen M., and Galassi, Giuliana

Abstract

Background and purpose: Various electrodiagnostic criteria have been developed in Guillain–Barré syndrome (GBS). Their performance in a broad representation of GBS patients has not been evaluated. Motor conduction data from the International GBS Outcome Study (IGOS) cohort were used to compare two widely used criterion sets and relate these to diagnostic amyotrophic lateral sclerosis criteria. Methods: From the first 1500 patients in IGOS, nerve conduction studies from 1137 (75.8%) were available for the current study. These patients were classified according to nerve conduction studies criteria proposed by Hadden and Rajabally. Results: Of the 1137 studies, 68.3% (N = 777) were classified identically according to criteria by Hadden and Rajabally: 111 (9.8%) axonal, 366 (32.2%) demyelinating, 195 (17.2%) equivocal, 35 (3.1%) inexcitable and 70 (6.2%) normal. Thus, 360 studies (31.7%) were classified differently. The areas of differences were as follows: 155 studies (13.6%) classified as demyelinating by Hadden and axonal by Rajabally; 122 studies (10.7%) classified as demyelinating by Hadden and equivocal by Rajabally; and 75 studies (6.6%) classified as equivocal by Hadden and axonal by Rajabally. Due to more strictly defined cutoffs fewer patients fulfilled demyelinating criteria by Rajabally than by Hadden, making more patients eligible for axonal or equivocal classification by Rajabally. In 234 (68.6%) axonal studies by Rajabally the revised El Escorial (amyotrophic lateral sclerosis) criteria were fulfilled; in axonal cases by Hadden this was 1.8%. Conclusions and discussion: This study shows that electrodiagnosis in GBS is dependent on the criterion set utilized, both of which are based on expert opinion. Reappraisal of electrodiagnostic subtyping in GBS is warranted. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial

Author

Kiernan, Matthew, Mathers, Susan, Henderson, Robert, Needham, Merrilee, Schultz, David, Löscher, Wolfgang, Mitrovic, Nenad, Rath, Jakob, Damme, Philip Van, De Bleecker, Jan L., Delstanche, Stéphanie, Johnston, Wendy, Zinman, Lorne, O'Connell, Colleen, Matte, Genevieve, Dionne, Annie, Korngut, Lawrence, Turnbull, John, Laaksovirta, Hannu, Jokela, Manu, Tapiola, Tero, Soriani, Marie-Hélène, Couratier, Philippe, Camu, William, Corcia, Philippe, Ludolph, Albert, Großkreutz, Julian, Meyer, Thomas, Boentert, Matthias, Schrank, Berthold, Prudlo, Johannes, Untucht, Robert, Hardiman, Orla, Siciliano, Gabriele, Chio', Adriano, Mazzini, Letizia, Inghilleri, Maurizio, Caponnetto, Claudia, Mora, Gabriele, Mora Pardina, Jesús S, Farrero Munoz, Eva, Vázquez Costa, Juan F, Aguera Morales, Eduardo, Varona, Luis, Andersen, Peter, Ingre, Caroline, Johansson, Rune, Radunovic, Aleksandar, Young, Carolyn, Babu, Suma, Shaibani, Aziz, Staff, Nathan, Vu, Tuan, Rivner, Michael, Scelsa, Stephen, Sivakumar, Kumaraswamy, Waheed, Waqar, Heitzman, Daragh, Rana, Sandeep, Pattee, Gary, Ajroud-Driss, Senda, Bayat, Elham, Kasarskis, Edward, Lange, Dale J, Elliott, Michael, Harris, Brent, Felice, Kevin, Pulley, Michael T, Kwan, Justin, Brown, Martin, Ravits, John, Burford, Matthew, Karam, Chafic, Miller, Timothy, Andrews, Jinsy, Levine, Todd, Locatelli, Eduardo, Wymer, James, Bedlack, Richard, Fee, Dominic, Goyal, Namita, Oskarsson, Bjorn, McCluskey, Leo, Caress, James, Weiss, Michael, Quick, Adam, Bromberg, Mark, Lacomis, David, Goutman, Stephen, Rezania, Kourosh, Guliani, Gaurav, Goslin, Kimberly, Katz, Jonathan S, Cudkowicz, Merit, Genge, Angela, Maragakis, Nicholas, Petri, Susanne, van den Berg, Leonard, Aho, Valtteri V, Sarapohja, Toni, Kuoppamäki, Mikko, Garratt, Chris, and Al-Chalabi, Ammar

Published
2021
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9. Phrenic neuropathy etiologies and recovery trajectories in outpatient rehabilitation and neuromuscular medicine clinics: A retrospective analysis.

Author

Demetriou, Nicholas, Jensen, Alexandra S., Farr, Ellen, Khanna, Shreyaa, Coleman, John M., Ajroud‐Driss, Senda, Adewuyi, Adenike A., Wolfe, Lisa F., and Franz, Colin K.

Abstract

Introduction/Aims: Phrenic neuropathy (PhN) impairs diaphragm muscle function, causing a spectrum of breathing disability. PhN etiologies and their natural history are ill‐defined. This knowledge gap hinders informed prognosis and management decisions. This study aims to help fill this knowledge gap on PhN etiologies, outcomes, and recovery patterns, especially in the context of nonsurgical clinical practice. Methods: This was a retrospective study from two interdisciplinary clinics, physiatry and neurology based. Patients were included if PhN was identified, and other causes of hemi‐diaphragm muscle dysfunction excluded. Patients were followed serially at the discretion of the neuromuscular‐trained neurologist or physiatrist. Recovery was assessed using pulmonary function tests (PFTs), diaphragm muscle ultrasound (US) thickening ratio, and patient‐reported outcomes in patients presenting within 2 years of PhN onset. Results: We identified 151 patients with PhN. The most common etiologies were idiopathic (27%), associated with cardiothoracic procedure (24%), and intensive care unit (17%). Of these patients, 117 (77%) were evaluated within 2 years of PhN onset. Of patients included in outcome analyses, 64% saw improvement on serial US, 50% on serial PFTs and 79% reported symptomatic improvement at an average of 15, 16, and 17 months, respectively. Discussion: A clear majority of PhN patients show improvement in diaphragm muscle function, but on average, improvements took 15–17 months depending on the assessment type. These insights are vital for developing tailored treatments and can guide physicians in prognosis and decision‐making, especially if more invasive interventions are being considered. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Plasma proteomic analysis on neuropathic pain in idiopathic peripheral neuropathy patients.

Author

van Doormaal, Perry T. C., Thomas, Simone, Ajroud‐Driss, Senda, Cole, Robert N., DeVine, Lauren R., Dimachkie, Mazen M., Geisler, Stefanie, Freeman, Roy, Simpson, David M., Singleton, J. Robinson, Smith, A. Gordon, Stino, Amro, and Höke, Ahmet

Subjects
PROTEIN metabolism, BIOMARKERS, STATISTICS, PERIPHERAL neuropathy, MULTIVARIATE analysis, PROTEOMICS, MASS spectrometry, BLOOD testing, PAIN management
Abstract

Background and Aims: Why only half of the idiopathic peripheral neuropathy (IPN) patients develop neuropathic pain remains unknown. By conducting a proteomics analysis on IPN patients, we aimed to discover proteins and new pathways that are associated with neuropathic pain. Methods: We conducted unbiased mass‐spectrometry proteomics analysis on blood plasma from 31 IPN patients with severe neuropathic pain and 29 IPN patients with no pain, to investigate protein biomarkers and protein–protein interactions associated with neuropathic pain. Univariate modeling was done with linear mixed modeling (LMM) and corrected for multiple testing. Multivariate modeling was performed using elastic net analysis and validated with internal cross‐validation and bootstrapping. Results: In the univariate analysis, 73 proteins showed a p‐value <.05 and 12 proteins showed a p‐value <.01. None were significant after Benjamini–Hochberg adjustment for multiple testing. Elastic net analysis created a model containing 12 proteins with reasonable discriminatory power to differentiate between painful and painless IPN (false‐negative rate 0.10, false‐positive rate 0.18, and an area under the curve 0.75). Eight of these 12 proteins were clustered into one interaction network, significantly enriched for the complement and coagulation pathway (Benjamini–Hochberg adjusted p‐value =.0057), with complement component 3 (C3) as the central node. Bootstrap validation identified insulin‐like growth factor‐binding protein 2 (IGFBP2), complement factor H‐related protein 4 (CFHR4), and ferritin light chain (FTL), as the most discriminatory proteins of the original 12 identified. Interpretation: This proteomics analysis suggests a role for the complement system in neuropathic pain in IPN. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

Author

Miller, Timothy M, Cudkowicz, Merit E, Andrews, Jinsy A, Hesters, Adele, Kermorvant, Hugo, Lacomblez, Lucette, Forestier, Nadine Le, Lenglet, Thimotée, Retail, Maryvonne, Ruiz Del Mar Amador, Maria, Salachas, François, Shotar, Eimad, Sourour, Nader, Babu, Suma, Dorst, Johannes, Froehlich, Elke, Fromm, Andrea, Kandler, Katharina, Langer, Eva, Leichtle, Sarah, Ludolph, Albert, Mayer, Kristina, Michels, Sebastian, Raubold, Sabine, Benatar, Michael, Schuster, Joachim, Weiland, Ulrike, Wiesenfarth, Maximilian, Witzel, Simon, Calvo, Andrea, Canosa, Antonio, Casale, Federico, Chiò, Adriano, Fuda, Giuseppe, Grassano, Maurizio, McDermott, Christopher J, Marchese, Giulia, Moglia, Cristina, Palumbo, Francesca, Salamone, Paolina, Ajiki, Takahiro, Akasaka, Aya, Ando, Masahiro, Arata, Hitoshi, Asuka, Kitamura, Baba, Kosuke, Cochrane, Thos, Bekku, Goichi, Chiba, Tomoya, Date, Yugaku, Eriko, Takeuchi, Hashiguchi, Akihiro, Hatatori, Ritsuko, Hayano, Eri, Hayashi, Yuto, Higashi, Keiko, Higuchi, Eriko, Chary, Sowmya, Hiramatsu, Yu, Horikawa, Rui, Ikenaka, Kensuke, Ishiura, Hiroyuki, Ito, Daisuke, Kawai, Sachiko, Kikuchi, Junko, Kuzuyama, Haruko, Li, Xuehong, Matsumoto, Chika, Chew, Sheena, Matsuura, Eiji, Michizono, Kumiko, Mitsui, Jun, Mitsutake, Akihiko, Mochizuki, Hideki, Nagamatsu, Akemi, Nagano, Seiichi, Nakamura, Tomonori, Naruse, Hiroya, Ogasawara, Asuka, Zhu, Han, Okada, Kensuke, Okamoto, Yuji, Okuno, Tatsusada, Oyama, Satoshi, Ozono, Tatsuhiko, Sakiyama, Yusuke, Sakuishi, Kaori, Seki, Morinobu, Shibata, Shota, Shimizu, Mikito, Wu, Fan, Takahata, Katsunori, Takahito, Yoshizaki, Takashima, Hiroshi, Takeichi, Hiroko, Tashiro, Yuichi, Toda, Tatsushi, Tomizu, Yuki, Tomoya, Wadayama, Ujiakira, Nishiike, Yashita, Daiki, Nestorov, Ivan, Al-Chalabi, Ammar, Alix, James, Bangalore, Priyadarshini, Blackburn, Daniel, Chiwera, Theresa, Clegg, Rosie, Collins, Alexis, Cooper-Knock, Jonathan, Emery, Anna, Franklin, John, Genge, Angela, Graham, Danielle, Green, Louisa, Harvey, Callum, Hobson, Esther, Islam, Mahjabim, Jenkins, Thomas Michael, Kazoka, Mbombe, Kelly, Gillian, Korley, Mercy, Madarshahaian, Daniel, Mayl, Keith, Sun, Peng, McDermott, Christopher John, Radford, Alex, Shaw, Christopher, Shaw, Pamela J, Sidebottom, Joe, Smart, Lynne, Sreedharan, Jemeen, Stone, Ben, Tsironis, Theocharis, Tuddenham, Lee, McNeill, Manjit, Verber, Nick, Wollff, Helen, Young, Stacy, Zis, Panagiotis, Adamo, Ashley, Ahmed, Arubah, Ajroud-Driss, Senda, Alameda, Gustave, Arcila-Londono, Ximena, Fanning, Laura, Baird, Candy, Bazan, Tracy, Berry, James, Bordeau, Jane, Bradford, Wendy, Brook, Nyda, Brown, Lauren, Bucelli, Robert C, Ferguson, Toby A, Buckner, Katherine, Budler, Michael W, Burba, Lindita, Burke, Katherine, Calhoun, Ashley D, Campbell, Sarah, Carey, Judith, Caristo, Irys B, Carty, Simon, Chan, Emmanuel, Fradette, Stephanie, Chaudhry, Vinay, Chen, Ricky, Chow, Saephanh, Clawson, Lora L, Clemens, Mitchell, Cloninger, Suzann E, Coleman-Wood, Krista, Cooper, Thomas N, Cummings, Arlena, Daniels, Jacquelyn, VALOR, DeSaro, Pamela, DeWitt, Michelle, Dedi, Brixhilda, Dempsey, Debbie, Denny, Carol, Doherty, Jenna, Doherty, Leana, Donahue, Megan, Doyle, Michael, Duncan, Jessie, Group, OLE Working, Elman, Lauren, Eloge, Christine M, Echiti, Desirae R, Ferrey, Dominic, Fournier, Christina, Fukumura, Yuriko, Gallagher, Katherine, Garaycoa, Jessica, Garrett, Mark, Gibson, Richard L, Beullens, Lien, Gifford, Ryan, Glass, Jonathan D, Gogol, Danuta, Golden, Shea, Gonzalez, Alexa, Goodman, Ira, Goolsby, Christopher, Goslin, Kimberly, Goulbourne, Michael, Granit, Volkan, Claeys, Kristl, Grignon, Anne-Laure, GuhaRay, Adreeja, Guide, Debra, Gundogdu, Melek Betul, Gutierrez, Gil, Hastings, Debbie, Hayzen, Colleen, Herzog, Hilary, Holloway, Raegan, Jacobs, Gabriel, Claeys, Thomas, Jacobsen, Bill, James, Virginia, Jenkins, Liberty, Jockel-Balsarotti, Jennifer, Johnson, Linda Carol, Jose, Sunil, Joslin, Benjamin, Karanja, Elizabeth, Katz, Jonathan, Keener, Anthony, Couwelier, Goedele, Kittle, Gale, Klein, Sara, Kreple, Collin, Rebecca, Rebecca, Kuenzler, Kuenzler, Kusnir, Jorge, Labbe, Kristen, Lachica-Encinas, Nicolet, Ladha, Shafeeq, Leimer, Lesli, D'Hondt, Ann, Levy, Michael, Levy, Wendy, Li, Yingji, Likanje, Marie-France, Livigni, Rebecca, Locatelli, Eduardo, Luppino, Sarah, Malcolm, Amber, Maragakis, Nicholas, Marin, Horia, Debien, Elisa, Markowitz, Clyde, Markway, Jesse, McCaffrey, Alexandra, McCoy, Arita, McCoy Gross, Kelly, Mehta, Kush, Meyer, Robert, Milan, Jennifer, Miller, Timothy, Miller, Robert G, de Keersmaecker, Sebastiaan, Morales, Francisco, Mosmiller, Elizabeth, Mott, Donovan, Moulton, Kelsey, Murphy, Christine A, Negron, Tirso, Nelson, Cassandra, Newman, Daniel S, Nissinen, Janne Kristoffer, Norman, Andrew, Della Faille, Laetitia, Ohkubo, Takuya, Olney, Nicholas, Ortiz, Natasha, Oskarsson, Bjorn, Pace, Mitchell, Packard, Kathleen, Padgett, Denny, Paganoni, Sabrina, Paredes, Maria E, Parker, Elizabeth, Delmotte, Koen, Partlow, Ann, Pattee, Gary L, Paulett, Jany, Pelot, Antoinette, Pfeifer, Kyle M, Pijanowski, Olivia, Pioro, Erik, Polak, Meraida, Prakash, Ahalya, Previte, Rosemarie, Depoortere, Sofie, Pukenas, Bryan, Quinn, Colin, Ravits, John, Razavi, Ryan, Regan, Tyler, Riley, Kristen M, Roth, Heather, Sanders, Danica, Scalia, Jennifer, Schmidt, Emma, de Velder, Laura, Schwen, Edward, Shah, Jaimin, Shah, Stuti, Shefner, Jeremy, Sheldon, Danielle, Simmons, Karon, Singh, Navneet K, Singleton, Jessica, Smiley, Richard, Smith, William B, Dobbels, Laurens, Smith, Sean, Sotirchos, Elias, Sorenson, Eric, Staff, Nathan, Steele, Julie, Steijlen, Kara, Stirrat, Taylor, Stoica, George S, Strong, Stephanie, Sufit, Robert, Sobue, Gen, Gijs, Jeroen, Sultze, Jane, Swartz, Amy, Szymanski, April, Tay, Anna, Thakore, Nimish, Thiessen, Diana, Thotala, Sukrutha, Trudell, Randall G, Turcotte, Nicole, Turner, Michelle, Horckmans, Simon, Uchil, Alpa, Upadhyay, Vihar, Usman, Uzma, Vallis, Anne, Vaporean-Bussey, Danielle, Vladimirova, Valentine, Weber, Harli, Winbigler, Jennifer, Wojanowski, Heather, Wulf, Charlie, Lamaire, Nikita, Yasek, Julia, Yoo, Stephanie, Zivalic, Hannah, Cole, Alexandra, File, Greta, Foate, Jeremy, Mason, Deborah, Newton, Susan, Roberts, Stephen, Sellwood, Cory Dean, Liessens, Hannelore, Swan, James, Werno, Anja, Zhong, Cathy, Masrori, Pegah, Nysten, Celine, Schotte, Caroline, Serrien, Anouk, Swinnen, Bart, Tilkin, Petra, van Daele, Sien, Van Damme, Philip, Vynckier, Jan, Wouters, Anke, Abrahao, Agessandro, Angle, Mark, Badawy, Mohamed, Berube, Maxime, Bertone, Vanessa, Cooper, Sarah Marie, Dobrowolski, Peter, Fong, Helen, Hannouche, Matthew, Hartley, Denise, Hogan, Michael, Johnston, Wendy, Khalfallah, Yousra, Korngut, Lawrence, Kroetsch, Gina, Letourneau, Justin, Magnussen, Claire, Martinez, Jose, Massie, Rami, Mobach, Theodore, Mookshah, Jahan, Ozelsel, Timur, Parks, Andrea, Petrillo, Janet, Pfeffer, Gerald, Ludolph, Albert C, Pham, Shirley, Phung, Liane, Shiungsun, Rodney, Pi-Shan, Li, Santos, Denizart, Salmon, Kristiana, Saunders, Natalie, Sembinelli, Dylan, Tymkow, Kelsey, Wong, Berchman, Zinman, Lorne, Karlsborg, Merete, Pedersen Lomholt, Therese, Nilsson, Sigrid, Salvesen, Lisette, Skov, Pernille, Svenstrup, Kristen, Bruneteau, Gaelle, Calerencon, Frederic, and Guimaraes Costa, Raquel

Subjects
Adult, drug effects [Recovery of Function], Spinal, Oligonucleotides, blood [Neurofilament Proteins], administration & dosage [Oligonucleotides, Antisense], tofersen, Injections, blood [Amyotrophic Lateral Sclerosis], pharmacology [Oligonucleotides, Antisense], Superoxide Dismutase-1, Double-Blind Method, Neurofilament Proteins, Humans, ddc:610, Antisense, Injections, Spinal, Biomarkers, Recovery of Function, Amyotrophic Lateral Sclerosis, Oligonucleotides, Antisense, blood [Biomarkers], drug therapy [Amyotrophic Lateral Sclerosis], therapeutic use [Oligonucleotides, Antisense], SOD1 protein, human, General Medicine, genetics [Superoxide Dismutase-1], genetics [Amyotrophic Lateral Sclerosis], cerebrospinal fluid [Biomarkers], cerebrospinal fluid [Superoxide Dismutase-1], cerebrospinal fluid [Amyotrophic Lateral Sclerosis]
Abstract

The intrathecally administered antisense oligonucleotide tofersen reduces synthesis of the superoxide dismutase 1 (SOD1) protein and is being studied in patients with amyotrophic lateral sclerosis (ALS) associated with mutations in SOD1 (SOD1 ALS).In this phase 3 trial, we randomly assigned adults with SOD1 ALS in a 2:1 ratio to receive eight doses of tofersen (100 mg) or placebo over a period of 24 weeks. The primary end point was the change from baseline to week 28 in the total score on the ALS Functional Rating Scale-Revised (ALSFRS-R; range, 0 to 48, with higher scores indicating better function) among participants predicted to have faster-progressing disease. Secondary end points included changes in the total concentration of SOD1 protein in cerebrospinal fluid (CSF), in the concentration of neurofilament light chains in plasma, in slow vital capacity, and in handheld dynamometry in 16 muscles. A combined analysis of the randomized component of the trial and its open-label extension at 52 weeks compared the results in participants who started tofersen at trial entry (early-start cohort) with those in participants who switched from placebo to the drug at week 28 (delayed-start cohort).A total of 72 participants received tofersen (39 predicted to have faster progression), and 36 received placebo (21 predicted to have faster progression). Tofersen led to greater reductions in concentrations of SOD1 in CSF and of neurofilament light chains in plasma than placebo. In the faster-progression subgroup (primary analysis), the change to week 28 in the ALSFRS-R score was -6.98 with tofersen and -8.14 with placebo (difference, 1.2 points; 95% confidence interval [CI], -3.2 to 5.5; P = 0.97). Results for secondary clinical end points did not differ significantly between the two groups. A total of 95 participants (88%) entered the open-label extension. At 52 weeks, the change in the ALSFRS-R score was -6.0 in the early-start cohort and -9.5 in the delayed-start cohort (difference, 3.5 points; 95% CI, 0.4 to 6.7); non-multiplicity-adjusted differences favoring early-start tofersen were seen for other end points. Lumbar puncture-related adverse events were common. Neurologic serious adverse events occurred in 7% of tofersen recipients.In persons with SOD1 ALS, tofersen reduced concentrations of SOD1 in CSF and of neurofilament light chains in plasma over 28 weeks but did not improve clinical end points and was associated with adverse events. The potential effects of earlier as compared with delayed initiation of tofersen are being further evaluated in the extension phase. (Funded by Biogen; VALOR and OLE ClinicalTrials.gov numbers, NCT02623699 and NCT03070119; EudraCT numbers, 2015-004098-33 and 2016-003225-41.).

Published
2022

14. Evidence‐based consensus guidelines for ALS genetic testing and counseling.

Author

Roggenbuck, Jennifer, Eubank, Breda H. F., Wright, Joshua, Harms, Matthew B., Kolb, Stephen J., Ajroud‐Driss, Senda, Arcila Londono, Ximena, Bauer, Gregory, Benatar, Michael, Bedlack, Richard, Brooks, Benjamin Rix, Chambers, Chelsea, Chehab, Farid F., Dratch, Laynie, Harrington, Elizabeth A., Elman, Lauren, Fernandes, Joseph Americo, Foster, Laura, Jackson, Carlayne E., and Fong, Jamie C.

Subjects
GENETIC testing, GENETIC counseling, AMYOTROPHIC lateral sclerosis, GENE therapy
Abstract

Objective: Advances in amyotrophic lateral sclerosis (ALS) gene discovery, ongoing gene therapy trials, and patient demand have driven increased use of ALS genetic testing. Despite this progress, the offer of genetic testing to persons with ALS is not yet "standard of care." Our primary goal is to develop clinical ALS genetic counseling and testing guidelines to improve and standardize genetic counseling and testing practice among neurologists, genetic counselors or any provider caring for persons with ALS. Methods: Core clinical questions were identified and a rapid review performed according to Preferred Reporting Items for Systematic Reviews and Meta‐Analyses (PRISMA‐P) 2015 method. Guideline recommendations were drafted and the strength of evidence for each recommendation was assessed by combining two systems: the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) System and the Evaluation of Genomic Applications in Practice and Prevention (EGAPP). A modified Delphi approach was used to reach consensus among a group of content experts for each guideline statement. Results: A total of 35 guideline statements were developed. In summary, all persons with ALS should be offered single‐step genetic testing, consisting of a C9orf72 assay, along with sequencing of SOD1, FUS, and TARDBP, at a minimum. The key education and genetic risk assessments that should be provided before and after testing are delineated. Specific guidance regarding testing methods and reporting for C9orf72 and other genes is provided for commercial laboratories. Interpretation: These evidence‐based, consensus guidelines will support all stakeholders in the ALS community in navigating benefits and challenges of genetic testing. [ABSTRACT FROM AUTHOR]

Published
2023
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15. The natural history of ALS: Baseline characteristics from a multicenter clinical cohort.

Author

Berger, Alex, Locatelli, Matteo, Arcila-Londono, Ximena, Hayat, Ghazala, Olney, Nicholas, Wymer, James, Gwathmey, Kelly, Lunetta, Christian, Heiman-Patterson, Terry, Ajroud-Driss, Senda, Macklin, Eric A., Bind, Marie-Abèle, Goslin, Kimberly, Stuchiner, Tamela, Brown, Lauren, Bazan, Tracy, Regan, Tyler, Adamo, Ashley, Ferment, Valerie, and Schroeder, Carly

Subjects
NATURAL history, AMYOTROPHIC lateral sclerosis, ELECTRONIC health records, OLDER patients, EXPERIMENTAL design
Abstract

Amyotrophic lateral sclerosis (ALS) is a rare disease with urgent need for improved treatment. Despite the acceleration of research in recent years, there is a need to understand the full natural history of the disease. As only 40% of people living with ALS are eligible for typical clinical trials, clinical trial datasets may not generalize to the full ALS population. While biomarker and cohort studies have more generous inclusion criteria, these too may not represent the full range of phenotypes, particularly if the burden for participation is high. To permit a complete understanding of the heterogeneity of ALS, comprehensive data on the full range of people with ALS is needed. The ALS Natural History Consortium (ALS NHC) consists of nine ALS clinics and was created to build a comprehensive dataset reflective of the ALS population. At each clinic, most patients are asked to participate and about 95% do. After obtaining consent, a minimum dataset is abstracted from each participant's electronic health record. Participant burden is therefore minimal. Data on 1925 ALS patients were submitted as of 9 December 2022. ALS NHC participants were more heterogeneous relative to anonymized clinical trial data from the Pooled Resource Open-Access ALS Clinical Trials (PRO-ACT) database. The ALS NHC includes ALS patients of older age of onset and a broader distribution of El Escorial categories, than the PRO-ACT database. ALS NHC participants had a higher diversity of diagnostic and demographic data compared to ALS clinical trial participants. What is already known on this topic: Current knowledge of the natural history of ALS derives largely from regional and national registries that have broad representation of the population of people living with ALS but do not always collect covariates and clinical outcomes. Clinical studies with rich datasets of participant characteristics and validated clinical outcomes have stricter inclusion and exclusion criteria that may not be generalizable to the full ALS population. What this study adds: To bridge this gap, we collected baseline characteristics for a sample of the population of people living with ALS seen at a consortium of ALS clinics that collect extensive, pre-specified participant-level data, including validated outcome measures. How this study might affect research, practice, or policy: A clinic-based longitudinal dataset can improve our understanding of the natural history of ALS and can be used to inform the design and analysis of clinical trials and health economics studies, to help the prediction of clinical course, to find matched controls for open label extension trials and expanded access protocols, and to document real-world evidence of the impact of novel treatments and changes in care practice. [ABSTRACT FROM AUTHOR]

Published
2023
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17. Primary lateral sclerosis natural history study – planning, designing, and early enrollment.

Author

Mitsumoto, Hiroshi, Jang, Grace, Lee, Ikjae, Simmons, Zachary, Sherman, Alexander V., Heitzman, Daragh, Sorenson, Eric, Cheung, Ken, Andrews, Jinsy, Harms, Matthew, Shneider, Neil A., Santella, Regina, Paganoni, Sabrina, Ajroud-Driss, Senda, Fernandes, J. Americo M., Burke, Katherine M., Gwathmey, Kelly, Habib, Ali A., Maragakis, Nicholas J., and Walk, David

Subjects
AMYOTROPHIC lateral sclerosis, NATURAL history, MOTOR neuron diseases, DISEASE duration, DISEASE progression
Abstract

Introduction/Aims. Primary lateral sclerosis (PLS) is exceedingly rare and has been an enigmatic disease. Recent progress has drastically changed this perception, with early biomarkers being investigated and potential medications for PLS emerging at the preclinical stage. The aim of this paper is to describe a study of PLS natural history and discuss the limitations and proposed solutions to the study of a rare and slowly progressive disease. Methods. The PLS Natural History Study is a 30-site, 24-month, prospective study that is supported by multiple funding sources. The study aims to enroll 50 early PLS (disease duration ≤4 years) and 50 definite PLS (disease duration 4 to 15 years) participants using modified PLS Diagnostic Criteria. Smartphone-based assessments including semi-quantitative and quantitative measures and patient-reported outcomes are utilized. In-person quantitative measures are also completed during site visits. The change in the PLS Functional Rating Scale score is the primary outcome. The study utilizes the NeuroBANK® patient-centric data capture and management platform. The biostatistical analysis plan has been developed. Results. In one year, 28 participants have been recruited. Enrollment has been much slower than anticipated due to the COVID-19 pandemic, the rarity of PLS, and potential study competition for internal resources from ALS clinical trials. Discussion. We discuss the need for more innovative methods to enroll and study individuals with such rare diseases and propose a number of mechanisms by which more efficient enrollment could be facilitated. [ABSTRACT FROM AUTHOR]

Published
2023
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18. NaV channel variants in patients with painful and nonpainful peripheral neuropathy

Author

Wadhawan, Samir, Pant, Saumya, Golhar, Ryan, Kirov, Stefan, Thompson, John, Jacobsen, Leslie, Qureshi, Irfan, Ajroud-Driss, Senda, Freeman, Roy, Simpson, David M., Smith, A. Gordon, Hoke, Ahmet, Bristow, Linda J., Shlemon, Pam, Dodinval, Marlene, Robinson-Papp, Jessica, Nmashie, Alexandra, Sharma, Sandeep, George, Mary Catherine, Thomas, Simone, Cornblath, David, Sumner, Charlotte, Morrison, Brett, Ilieva, Hristelina, Ostrow, Lyle, Polydefkis, Michael, Khoshnoodi, Mohamed, Gibbons, Christopher H., Li, John Michael, Menichella, Daniela, Allen, Jeffrey, Casey, Pat, Mukit, Sabeeha, Joslin, Benjamin, and Singleton, J. Robinson

Published
2017
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20. Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study

Author

Elman, Lauren, primary, Youn, Bora, additional, Proud, Crystal M., additional, Frey, Margaret R., additional, Ajroud-Driss, Senda, additional, McCormick, M. Eileen, additional, Michelson, David, additional, Cartwright, Michael S., additional, Heiman-Patterson, Terry, additional, Choi, Joseph M., additional, Chandak, Aastha, additional, Khachatryan, Artak, additional, Martinez, Marta, additional, and Paradis, Angela D., additional

Published
2022
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25. A large-scale multicentre cerebral diffusion tensor imaging study in amyotrophic lateral sclerosis

Author

Müller, Hans-Peter, Turner, Martin R, Grosskreutz, Julian, Abrahams, Sharon, Bede, Peter, Govind, Varan, Prudlo, Johannes, Ludolph, Albert C, Filippi, Massimo, Kassubek, Jan, Abdulla, Susanne, Agosta, Federica, Ajroud-Driss, Senda, Atassi, Nazem, Bastin, Mark, Benatar, Michael, Brooks, William, Calvo, Andrea, Cardenas-Blanco, Arturo, Chio, Adriano, De Carvalho, Mamede, Dahnke, Robert, Enzinger, Christian, Ferraro, Pilar Maria, Floeter, Mary Kay, Foerster, Bradley, Gaser, Christian, Geraldo, Ana Filipa, Gorges, Martin, Grehl, Torsten, Groen, Georg, Hardiman, Orla, Hartung, Viktor, Jelsone-Swain, Laura, Jenkins, Tom, Kalra, Sanjay, Kasper, Elisabeth, Kitzler, Hagen, Koritnik, Blaz, Kuzma–Kozakiewicz, Magdalena, LaFleur, Karl, Lulé, Dorothée, Machts, Judith, Meoded, Avner, Pettit, Lewis, Euan, MacDonald, Pioro, Erik, Poletti, Barbara, Pradat, Pierre-Francois, Prell, Tino, Proudfoot, Malcolm, Ratti, Elena, Riva, Nilo, Robberecht, Wim, Ropele, Stefan, Salachas, Francois, Schmidt, Ruben, Schmidt-Wilcke, Schuster, Christina, Shaw, Pamela, Sherman, Alex, Silani, Vincenzo, Spinelli, Edoardo Gioele, Teipel, Stefan, Van Damme, Philip, Van den Berg, Leonard, Van den Heuvel, Martin, Verstraete, Esther, Walhout, Renée, Welsh, Robert, Weber, Markus, Westeneng, Henk-Jan, Wittstock, Matthias, and Yunusova, Yana

Published
2016
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26. CIDP prognosis in patients with IVIG treatment‐related fluctuations.

Author

Cook, Melissa, Pasnoor, Mamatha, Ajroud‐Driss, Senda, Brannagan, Thomas H., Dimachkie, Mazen M., and Allen, Jeffrey A.

Abstract

Introduction/aims: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an acquired immune‐mediated peripheral nerve disorder with variable prognosis and long‐term dependence on immunotherapy. Frequent assessment of grip strength can be a useful tool to identify intravenous immunoglobulin (IVIG) treatment‐related fluctuations (TRFs) and optimize IVIG treatment in real‐time, but the long‐term implications of TRFs are unknown. We aimed to explore the impact that real‐time TRFs had on long‐term CIDP prognosis, strength impairment, and disability. Methods: This retrospective observational cohort study analyzed standard of care clinical and treatment outcomes in patients who participated in a published prospective study of intra‐IVIG‐cycle grip strength quantification. Patients were analyzed based upon the presence or absence of TRFs, as determined in the initial prospective study. Results: Data were available for 23 CIDP patients with a mean follow‐up period of 44.7 mo. There were no differences in baseline or follow‐up strength, disability, or IVIG usage in patients with a low number of fluctuations compared to those with a high number of fluctuations. In both groups, drug‐free remission was achieved in about one‐third of patients. Discussion: TRFs are important to identify in order to optimize treatment in real time, but poorly predict long‐term disease activity status. The presence of minor TRFs are unlikely to result in substantial accumulation of disability over time. Periodic IVIG optimization trials using objective outcomes are encouraged in all CIDP patients receiving chronic IVIG treatment as a means to identify the lowest effective IVIG dose and frequency. [ABSTRACT FROM AUTHOR]

Published
2023
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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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28. Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial

Author

Cudkowicz, Merit, primary, Genge, Angela, additional, Maragakis, Nicholas, additional, Petri, Susanne, additional, van den Berg, Leonard, additional, Aho, Valtteri V, additional, Sarapohja, Toni, additional, Kuoppamäki, Mikko, additional, Garratt, Chris, additional, Al-Chalabi, Ammar, additional, Kiernan, Matthew, additional, Mathers, Susan, additional, Henderson, Robert, additional, Needham, Merrilee, additional, Schultz, David, additional, Löscher, Wolfgang, additional, Mitrovic, Nenad, additional, Rath, Jakob, additional, Damme, Philip Van, additional, De Bleecker, Jan L., additional, Delstanche, Stéphanie, additional, Johnston, Wendy, additional, Zinman, Lorne, additional, O'Connell, Colleen, additional, Matte, Genevieve, additional, Dionne, Annie, additional, Korngut, Lawrence, additional, Turnbull, John, additional, Laaksovirta, Hannu, additional, Jokela, Manu, additional, Tapiola, Tero, additional, Soriani, Marie-Hélène, additional, Couratier, Philippe, additional, Camu, William, additional, Corcia, Philippe, additional, Ludolph, Albert, additional, Großkreutz, Julian, additional, Meyer, Thomas, additional, Boentert, Matthias, additional, Schrank, Berthold, additional, Prudlo, Johannes, additional, Untucht, Robert, additional, Hardiman, Orla, additional, Siciliano, Gabriele, additional, Chio', Adriano, additional, Mazzini, Letizia, additional, Inghilleri, Maurizio, additional, Caponnetto, Claudia, additional, Mora, Gabriele, additional, Mora Pardina, Jesús S, additional, Farrero Munoz, Eva, additional, Vázquez Costa, Juan F, additional, Aguera Morales, Eduardo, additional, Varona, Luis, additional, Andersen, Peter, additional, Ingre, Caroline, additional, Johansson, Rune, additional, Radunovic, Aleksandar, additional, Young, Carolyn, additional, Babu, Suma, additional, Shaibani, Aziz, additional, Staff, Nathan, additional, Vu, Tuan, additional, Rivner, Michael, additional, Scelsa, Stephen, additional, Sivakumar, Kumaraswamy, additional, Waheed, Waqar, additional, Heitzman, Daragh, additional, Rana, Sandeep, additional, Pattee, Gary, additional, Ajroud-Driss, Senda, additional, Bayat, Elham, additional, Kasarskis, Edward, additional, Lange, Dale J, additional, Elliott, Michael, additional, Harris, Brent, additional, Felice, Kevin, additional, Pulley, Michael T, additional, Kwan, Justin, additional, Brown, Martin, additional, Ravits, John, additional, Burford, Matthew, additional, Karam, Chafic, additional, Miller, Timothy, additional, Andrews, Jinsy, additional, Levine, Todd, additional, Locatelli, Eduardo, additional, Wymer, James, additional, Bedlack, Richard, additional, Fee, Dominic, additional, Goyal, Namita, additional, Oskarsson, Bjorn, additional, McCluskey, Leo, additional, Caress, James, additional, Weiss, Michael, additional, Quick, Adam, additional, Bromberg, Mark, additional, Lacomis, David, additional, Goutman, Stephen, additional, Rezania, Kourosh, additional, Guliani, Gaurav, additional, Goslin, Kimberly, additional, and Katz, Jonathan S, additional

Published
2021
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30. 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, Polydefkis, Michael, Gonzalez-Duarte, Alejandra, Wixner, Jonas, Kristen, Arnt, V, Schmidt, Hartmut H., Berk, John L., Losada Lopez, Ines Asuncion, Dispenzieri, Angela, Quan, Dianna, Conceicao, Isabel M., Slama, Michel S., Gillmore, Julian D., Kyriakides, Theodoros, Ajroud-Driss, Senda, Waddington-Cruz, Marcia, Mezei, Michelle M., Plante-Bordeneuve, Violaine, Attarian, Shahram, Mauricio, Elizabeth, Brannagan, Thomas H., III, Ueda, Mitsuharu, Aldinc, Emre, Wang, Jing Jing, White, Matthew T., Vest, John, Berber, Erhan, Sweetser, Marianne T., Coelho, Teresa, Adams, David, Polydefkis, Michael, Gonzalez-Duarte, Alejandra, Wixner, Jonas, Kristen, Arnt, V, Schmidt, Hartmut H., Berk, John L., Losada Lopez, Ines Asuncion, Dispenzieri, Angela, Quan, Dianna, Conceicao, Isabel M., Slama, Michel S., Gillmore, Julian D., Kyriakides, Theodoros, Ajroud-Driss, Senda, Waddington-Cruz, Marcia, Mezei, Michelle M., Plante-Bordeneuve, Violaine, Attarian, Shahram, Mauricio, Elizabeth, Brannagan, Thomas H., III, Ueda, Mitsuharu, Aldinc, Emre, Wang, Jing Jing, White, Matthew T., Vest, John, Berber, Erhan, Sweetser, Marianne T., and Coelho, Teresa

Abstract

Background Hereditary transthyretin-mediated amyloidosis is a rare, inherited, progressive disease caused by mutations in the transthyretin (TTR) gene. We assessed the safety and efficacy of long-term treatment with patisiran, an RNA interference therapeutic that inhibits TTR production, in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy. Methods This multicentre, open-label extension (OLE) trial enrolled patients at 43 hospitals or clinical centres in 19 countries as of Sept 24, 2018. Patients were eligible if they had completed the phase 3 APOLLO or phase 2 OLE parent studies and tolerated the study drug. Eligible patients from APOLLO (patisiran and placebo groups) and the phase 2 OLE (patisiran group) studies enrolled in this global OLE trial and received patisiran 0.3 mg/kg by intravenous infusion every 3 weeks with plans to continue to do so for up to 5 years. Efficacy assessments included measures of polyneuropathy (modified Neuropathy Impairment Score +7 [mNIS+7]), quality of life, autonomic symptoms, nutritional status, disability, ambulation status, motor function, and cardiac stress, with analysis by study groups (APOLLO-placebo, APOLLO-patisiran, phase 2 OLE patisiran) based on allocation in the parent trial. The global OLE is ongoing with no new enrolment, and current findings are based on the interim analysis of the patients who had completed 12-month efficacy assessments as of the data cutoff. Safety analyses included all patients who received one or more dose of patisiran up to the data cutoff. This study is registered with ClinicalTrials.gov, NCT02510261. Findings Between July 13, 2015, and Aug 21, 2017, of 212 eligible patients, 211 were enrolled: 137 patients from the APOLLO-patisiran group, 49 from the APOLLO-placebo group, and 25 from the phase 2 OLE patisiran group. At the data cutoff on Sept 24, 2018, 126 (92%) of 137 patients from the APOLLO-patisiran group, 38 (78%) of 49 from the APOLLO-placebo group, and 25 (

Published
2021
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32. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

Author

Fogh, Isabella, Ratti, Antonia, Gellera, Cinzia, Lin, Kuang, Tiloca, Cinzia, Moskvina, Valentina, Corrado, Lucia, Sorarù, Gianni, Cereda, Cristina, Corti, Stefania, Gentilini, Davide, Calini, Daniela, Castellotti, Barbara, Mazzini, Letizia, Querin, Giorgia, Gagliardi, Stella, Del Bo, Roberto, Conforti, Francesca L., Siciliano, Gabriele, Inghilleri, Maurizio, Saccà, Francesco, Bongioanni, Paolo, Penco, Silvana, Corbo, Massimo, Sorbi, Sandro, Filosto, Massimiliano, Ferlini, Alessandra, Di Blasio, Anna M., Signorini, Stefano, Shatunov, Aleksey, Jones, Ashley, Shaw, Pamela J., Morrison, Karen E., Farmer, Anne E., Van Damme, Philip, Robberecht, Wim, Chiò, Adriano, Traynor, Bryan J., Sendtner, Michael, Melki, Judith, Meininger, Vincent, Hardiman, Orla, Andersen, Peter M., Leigh, Nigel P., Glass, Jonathan D., Overste, Daniel, Diekstra, Frank P., Veldink, Jan H., van Es, Michael A., Shaw, Christopher E., Weale, Michael E., Lewis, Cathryn M., Williams, Julie, Brown, Robert H., Landers, John E., Ticozzi, Nicola, Ceroni, Mauro, Pegoraro, Elena, Comi, Giacomo P., DʼAlfonso, Sandra, van den Berg, Leonard H., Taroni, Franco, Al-Chalabi, Ammar, Powell, John, Silani, Vincenzo, Brescia Morra, Vincenzo, Filla, Alessandro, Massimo, Filosto, Marsili, Angela, Viviana, Pensato, Puorro, Giorgia, La Bella, Vincenzo, Logroscino, Giancarlo, Monsurrò, Maria Rosaria, Quattrone, Aldo, Simone, Isabella Laura, Ahmeti, Kreshnik B., Ajroud-Driss, Senda, Armstrong, Jennifer, Birve, Anne, Blauw, Hylke M., Bruijn, Lucie, Chen, Wenjie, Comeau, Mary C., Cronin, Simon, Soraya, Gkazi Athina, Grab, Josh D., Groen, Ewout J., Haines, Jonathan L., Heller, Scott, Huang, Jie, Hung, Wu-Yen, Jaworski, James M., Khan, Humaira, Langefeld, Carl D., Marion, Miranda C., McLaughlin, Russell L., Miller, Jack W., Mora, Gabriele, Pericak-Vance, Margaret A., Rampersaud, Evadnie, Siddique, Nailah, Siddique, Teepu, Smith, Bradley N., Sufit, Robert, Topp, Simon, Vance, Caroline, van Vught, Paul, Yang, Yi, and Zheng, J.G.

Published
2014
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35. Quantifying Treatment-Related Fluctuations in CIDP

Author

Allen, Jeffrey A., primary, Pasnoor, Mamatha, additional, Dimachkie, Mazen M., additional, Ajroud-Driss, Senda, additional, Brannagan, Thomas H., additional, Cook, Albert A., additional, Walton, Timothy, additional, Fiecas, Mark B., additional, Kissel, John T., additional, Merkies, Ingemar, additional, Gorson, Kenneth C., additional, and Lewis, Richard A., additional

Published
2021
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36. ALS: Management Problems

Author

Brent, Jonathan R., Franz, Colin K., Coleman, John M., and Ajroud-Driss, Senda

Subjects
Adult, Male, Amyotrophic Lateral Sclerosis, Quality of Life, Disease Management, Humans, Female, Middle Aged, Respiratory Insufficiency, Article
Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal disease with no cure; however, symptomatic management has an impact on quality of life and survival. Symptom management is best performed in a multidisciplinary care setting, where patients are evaluated by multiple health care professionals. Respiratory failure is a significant cause of morbidity and mortality in patients with ALS. Early initiation of noninvasive ventilation can prolong survival, and adequate use of airway clearance techniques can prevent respiratory infections. Preventing and treating weight loss caused by dysphagia may slow down disease progression, and expert management of spasticity from upper motor neuron dysfunction enhances patient well-being.

Published
2020

40. ALS

Author

Brent, Jonathan R., primary, Franz, Colin K., additional, Coleman, John M., additional, and Ajroud-Driss, Senda, additional

Published
2020
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41. Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis

Author

Obici, Laura, primary, Berk, John L., additional, González-Duarte, Alejandra, additional, Coelho, Teresa, additional, Gillmore, Julian, additional, Schmidt, Hartmut H.-J., additional, Schilling, Matthias, additional, Yamashita, Taro, additional, Labeyrie, Céline, additional, Brannagan, Thomas H., additional, Ajroud-Driss, Senda, additional, Gorevic, Peter, additional, Kristen, Arnt V., additional, Franklin, Jaclyn, additional, Chen, Jihong, additional, Sweetser, Marianne T., additional, Wang, Jing Jing, additional, and Adams, David, additional

Published
2020
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44. Impact of Patisiran on Overall Health Status in hATTR Amyloidosis : Results from the APOLLO Trial

Author

Ajroud-Driss, Senda, Adams, David, Coelho, Teresa, Polydefkis, Michael, Gonzalez-Duarte, Alejandra, Quan, Dianna, Kristen, Arnt, Berk, John L., Partisano, Angela M., Gollob, Jared, Sweetser, Marianne T., Chen, Jihong, Agarwal, Sonalee, Suhr, Ole B., Ajroud-Driss, Senda, Adams, David, Coelho, Teresa, Polydefkis, Michael, Gonzalez-Duarte, Alejandra, Quan, Dianna, Kristen, Arnt, Berk, John L., Partisano, Angela M., Gollob, Jared, Sweetser, Marianne T., Chen, Jihong, Agarwal, Sonalee, and Suhr, Ole B.

Published
2019

45. Recent Advances in the Management of ALS: What Managed Care Needs to Know in an Evolving Treatment Paradigm.

Author

Ajroud-Driss, Senda

Subjects
AMYOTROPHIC lateral sclerosis treatment, MANAGED care programs, MEDICAL technology, DISEASE incidence, TREATMENT effectiveness, MILITARY service, PHYSICAL activity, DIETARY supplements, AMYOTROPHIC lateral sclerosis, DISEASE prevalence, RESPIRATORY therapy, QUALITY of life, HEALTH care teams, DECISION making in clinical medicine, RARE diseases
Abstract

Amyotrophic lateral sclerosis is a complex devastating neurogenerative disease that is costly to manage. Although significant improvements in care have been made in the past 20 years, it is still a fatal disease. [ABSTRACT FROM AUTHOR]

Published
2021

46. New DEStiny Revealed: A Young Woman Post Ablation for WPW Syndrome with Recurrent Syncope and Progressive Myopathy

Author

Aubert, Gregory, Ajroud-Driss, Senda, Knight, Bradley P., Shah, Sanjiv J., and McNally, Elizabeth M.

Subjects
Adult, Biopsy, Cardiac Pacing, Artificial, Article, Echocardiography, Doppler, Syncope, Desmin, Electrocardiography, Heart Block, Phenotype, Treatment Outcome, Muscular Dystrophies, Limb-Girdle, Recurrence, Mutation, Catheter Ablation, Disease Progression, Humans, Female, Genetic Predisposition to Disease, Wolff-Parkinson-White Syndrome
Published
2018

49. Impact of Patisiran on Overall Health Status in hATTR Amyloidosis: Results from the APOLLO Trial (S27.007)

Author

Ajroud-Driss, Senda, primary, Adams, David, additional, Coelho, Teresa, additional, Polydefkis, Michael, additional, Gonzalez-Duarte, Alejandra, additional, Quan, Dianna, additional, Kristen, Arnt, additional, Berk, John L., additional, Partisano, Angela M., additional, Gollob, Jared, additional, Sweetser, Marianne T., additional, Chen, Jihong, additional, Agarwal, Sonalee, additional, and Suhr, Ole B., additional

Published
2019
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