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1. Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module

Author

Coratti, Giorgia, Civitello, Matthew, Rohwer, Annemarie, Albamonte, Emilio, Montes, Jacqueline, Glanzman, Allan M, Pasternak, Amy, De Sanctis, Roberto, Young, Sally Dunaway, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, D'Amico, Adele, Catteruccia, Michela, Brolatti, Noemi, Pane, Marika, Scoto, Mariacristina, Messina, Sonia, Hirano, Michio, Zolkipli-Cunningham, Zarazuela, Darras, Basil T, Bertini, Enrico, Bruno, Claudio, Sansone, Valeria A, Salmin, Francesca, Day, John, Baranello, Giovanni, Pera, Maria Carmela, Muntoni, Francesco, Finkel, Richard S., and Mercuri, Eugenio

Published
2024
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2. Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA

Author

Coratti, Giorgia, Civitello, Matthew, Rohwer, Annemarie, Salmin, Francesca, Glanzman, Allan M, Montes, Jaqueline, Pasternak, Amy, De Sanctis, Roberto, Young, Sally Dunaway, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, Pane, Marika, Scoto, Mariacristina, Messina, Sonia, Hirano, Michio, Zolkipli-Cunningham, Zarazuela, Darras, Basil T, Bertini, Enrico, Bruno, Claudio, Sansone, Valeria A, Day, John, Baranello, Giovanni, Pera, Maria Carmela, Muntoni, Francesco, Finkel, Richard, and Mercuri, Eugenio

Published
2024
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3. Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy

Author

Leow, Damien Meng-Kiat, Ng, Yang Kai, Wang, Loo Chien, Koh, Hiromi W.L., Zhao, Tianyun, Khong, Zi Jian, Tabaglio, Tommaso, Narayanan, Gunaseelan, Giadone, Richard M., Sobota, Radoslaw M., Ng, Shi-Yan, Teo, Adrian Kee Keong, Parson, Simon H., Rubin, Lee L., Ong, Wei-Yi, Darras, Basil T., and Yeo, Crystal J.J.

Subjects
Liver cells -- Health aspects -- Physiological aspects, Medical research, Medicine, Experimental, Fatty liver -- Risk factors -- Development and progression, Metabolic diseases -- Development and progression -- Risk factors, Spinal muscular atrophy -- Complications and side effects, Phenotype -- Research, Health care industry
Abstract

Spinal muscular atrophy (SMA) is typically characterized as a motor neuron disease, but extraneuronal phenotypes are present in almost every organ in severely affected patients and animal models. Extraneuronal phenotypes were previously underappreciated, as patients with severe SMA phenotypes usually died in infancy; however, with current treatments for motor neurons increasing patient lifespan, impaired function of peripheral organs may develop into significant future comorbidities and lead to new treatment-modified phenotypes. Fatty liver is seen in SMA animal models, but generalizability to patients and whether this is due to hepatocyte-intrinsic survival motor neuron (SMN) protein deficiency and/or subsequent to skeletal muscle denervation is unknown. If liver pathology in SMA is SMN dependent and hepatocyte intrinsic, this suggests SMN-repleting therapies must target extraneuronal tissues and motor neurons for optimal patient outcome. Here, we showed that fatty liver is present in SMA patients and that SMA patient- specific induced pluripotent stem cell-derived hepatocyte-like cells were susceptible to steatosis. Using proteomics, functional studies, and CRISPR/Cas9 gene editing, we confirmed that fatty liver in SMA is a primary SMN-dependent hepatocyte- intrinsic liver defect associated with mitochondrial and other hepatic metabolism implications. These pathologies require monitoring and indicate the need for systematic clinical surveillance and additional and/or combinatorial therapies to ensure continued SMA patient health., Introduction Spinal muscular atrophy (SMA) is one of the most common monogenetic autosomal recessive neuromuscular genetic diseases, with a worldwide carrier frequency of approximately 1 in 52 and disease incidence [...]

Published
2024
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5. Dystrophinopathies

Author

Ghosh, Partha S., Darras, Basil T., Tarsy, Daniel, Series Editor, Narayanaswami, Pushpa, editor, and Liewluck, Teerin, editor

Published
2023
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7. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Author

Nascimento, Andres, Bruels, Christine C., Donkervoort, Sandra, Foley, A. Reghan, Codina, Anna, Milisenda, Jose C., Estrella, Elicia A., Li, Chengcheng, Pijuan, Jordi, Draper, Isabelle, Hu, Ying, Stafki, Seth A., Pais, Lynn S., Ganesh, Vijay S., O’Donnell-Luria, Anne, Syeda, Safoora B., Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Martorell, Loreto, Pinal-Fernandez, Iago, Lidov, Hart G. W., Mammen, Andrew L., Grau-Junyent, Josep M., Ortez, Carlos, Palau, Francesc, Ghosh, Partha S., Darras, Basil T., Jou, Cristina, Kunkel, Louis M., Hoenicka, Janet, Bönnemann, Carsten G., Kang, Peter B., and Natera-de Benito, Daniel

Published
2023
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8. Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.

Author

Rudnicki, Stacy A, Andrews, Jinsy A, Duong, Tina, Cockroft, Bettina M, Malik, Fady I, Meng, Lisa, Wei, Jenny, Wolff, Andrew A, Genge, Angela, Johnson, Nicholas E, Tesi-Rocha, Carolina, Connolly, Anne M, Darras, Basil T, Felice, Kevin, Finkel, Richard S, Shieh, Perry B, Mah, Jean K, Statland, Jeffrey, Campbell, Craig, Habib, Ali A, Kuntz, Nancy L, Oskoui, Maryam, and Day, John W

Subjects
Muscle, Skeletal, Humans, Muscular Atrophy, Spinal, Troponin I, Drugs, Investigational, Cohort Studies, Double-Blind Method, Adolescent, Adult, Aged, Middle Aged, Child, Female, Male, Young Adult, Walk Test, Reldesemtiv, pharmacodynamics, pharmacokinetics, six-minute walk test, spinal muscular atrophy clinical trial, Clinical Research, Clinical Trials and Supportive Activities, Rare Diseases, 6.1 Pharmaceuticals, Neurosciences, Pharmacology and Pharmaceutical Sciences, Public Health and Health Services, Neurology & Neurosurgery
Abstract

This phase 2, double-blind, placebo-controlled, hypothesis-generating study evaluated the effects of oral reldesemtiv, a fast skeletal muscle troponin activator, in patients with spinal muscular atrophy (SMA). Patients ≥ 12 years of age with type II, III, or IV SMA were randomized into 2 sequential, ascending reldesemtiv dosing cohorts (cohort 1: 150 mg bid or placebo [2:1]; cohort 2: 450 mg bid or placebo [2:1]). The primary objective was to determine potential pharmacodynamic effects of reldesemtiv on 8 outcome measures in SMA, including 6-minute walk distance (6MWD) and maximum expiratory pressure (MEP). Changes from baseline to weeks 4 and 8 were determined. Pharmacokinetics and safety were also evaluated. Patients were randomized to reldesemtiv 150 mg, 450 mg, or placebo (24, 20, and 26, respectively). The change from baseline in 6MWD was greater for reldesemtiv 450 mg than for placebo at weeks 4 and 8 (least squares [LS] mean difference, 35.6 m [p = 0.0037] and 24.9 m [p = 0.058], respectively). Changes from baseline in MEP at week 8 on reldesemtiv 150 and 450 mg were significantly greater than those on placebo (LS mean differences, 11.7 [p = 0.038] and 13.2 cm H2O [p = 0.03], respectively). For 6MWD and MEP, significant changes from placebo were seen in the highest reldesemtiv peak plasma concentration quartile (Cmax > 3.29 μg/mL; LS mean differences, 43.3 m [p = 0.010] and 28.8 cm H2O [p = 0.0002], respectively). Both dose levels of reldesemtiv were well tolerated. Results suggest reldesemtiv may offer clinical benefit and support evaluation in larger SMA patient populations.

Published
2021

10. Seven-Year Experience From the National Institute of Neurological Disorders and Stroke–Supported Network for Excellence in Neuroscience Clinical Trials

Author

Cudkowicz, Merit, Chase, Marianne K, Coffey, Christopher S, Ecklund, Dixie J, Thornell, Brenda J, Lungu, Codrin, Mahoney, Katy, Gutmann, Laurie, Shefner, Jeremy M, Staley, Kevin J, Bosch, Michael, Foster, Eric, Long, Jeffrey D, Bayman, Emine O, Torner, James, Yankey, Jon, Peters, Richard, Huff, Trevis, Conwit, Robin A, Shinnar, Shlomo, Patch, Donna, Darras, Basil T, Ellis, Audrey, Packer, Roger J, Marder, Karen S, Chiriboga, Claudia A, Henchcliffe, Claire, Moran, Joyce Ann, Nikolov, Blagovest, Factor, Stewart A, Seeley, Carole, Greenberg, Steven M, Amato, Anthony A, DeGregorio, Sara, Simuni, Tanya, Ward, Tina, Kissel, John T, Kolb, Stephen J, Bartlett, Amy, Quinn, Joseph F, Keith, Kellie, Levine, Steven R, Gilles, Nadege, Coyle, Patricia K, Lamb, Jessica, Wolfe, Gil I, Crumlish, Annemarie, Mejico, Luis, Iqbal, Muhammad Maaz, Bowen, James D, Tongco, Caryl, Nabors, Louis B, Bashir, Khurram, Benge, Melanie, McDonald, Craig M, Henricson, Erik K, Oskarsson, Björn, Dobkin, Bruce H, Canamar, Catherine, Glauser, Tracy A, Woo, Daniel, Molloy, Angela, Clark, Peggy, Vollmer, Timothy L, Stein, Alexander J, Barohn, Richard J, Dimachkie, Mazen M, Le Pichon, Jean-Baptiste, Benatar, Michael G, Steele, Julie, Wechsler, Lawrence, Clemens, Paula R, Amity, Christine, Holloway, Robert G, Annis, Christine, Goldberg, Mark P, Andersen, Mariam, Iannaccone, Susan T, Smith, A Gordon, Singleton, J Robinson, Doudova, Mariana, Haley, E Clarke, Quigg, Mark S, Lowenhaupt, Stephanie, Malow, Beth A, Adkins, Karen, Clifford, David B, Teshome, Mengesha A, and Connolly, Noreen

Subjects
Neurosciences, Clinical Trials and Supportive Activities, Stroke, Clinical Research, Brain Disorders, Clinical Trials as Topic, Humans, National Institute of Neurological Disorders and Stroke (U.S.), Nervous System Diseases, Neurology, United States, NeuroNEXT Clinical Study Sites, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ImportanceOne major advantage of developing large, federally funded networks for clinical research in neurology is the ability to have a trial-ready network that can efficiently conduct scientifically rigorous projects to improve the health of people with neurologic disorders.ObservationsNational Institute of Neurological Disorders and Stroke Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT) was established in 2011 and renewed in 2018 with the goal of being an efficient network to test between 5 and 7 promising new agents in phase II clinical trials. A clinical coordinating center, data coordinating center, and 25 sites were competitively chosen. Common infrastructure was developed to accelerate timelines for clinical trials, including central institutional review board (a first for the National Institute of Neurological Disorders and Stroke), master clinical trial agreements, the use of common data elements, and experienced research sites and coordination centers. During the first 7 years, the network exceeded the goal of conducting 5 to 7 studies, with 9 funded. High interest was evident by receipt of 148 initial applications for potential studies in various neurologic disorders. Across the first 8 studies (the ninth study was funded at end of initial funding period), the central institutional review board approved the initial protocol in a mean (SD) of 59 (21) days, and additional sites were added a mean (SD) of 22 (18) days after submission. The median time from central institutional review board approval to first site activation was 47.5 days (mean, 102.1; range, 1-282) and from first site activation to first participant consent was 27 days (mean, 37.5; range, 0-96). The median time for database readiness was 3.5 months (mean, 4.0; range, 0-8) from funding receipt. In the 4 completed studies, enrollment met or exceeded expectations with 96% overall data accuracy across all sites. Nine peer-reviewed manuscripts were published, and 22 oral presentations or posters and 9 invited presentations were given at regional, national, and international meetings.Conclusions and relevanceNeuroNEXT initiated 8 studies, successfully enrolled participants at or ahead of schedule, collected high-quality data, published primary results in high-impact journals, and provided mentorship, expert statistical, and trial management support to several new investigators. Partnerships were successfully created between government, academia, industry, foundations, and patient advocacy groups. Clinical trial consortia can efficiently and successfully address a range of important neurologic research and therapeutic questions.

Published
2020

12. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Volpe, Joseph J, Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Gerber, Marianne, Khwaja, Omar, Scalco, Renata S, Seabrook, Timothy, Koch, Armin, Balikova, Irina, Joniau, Inge, Accou, Geraldine, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, de Holanda Mendonça, Rodrigo, Matsui Jr, Ciro, Fornazieri Darcie, Ana Letícia, Machado, Cleide, Kiyoko Oyamada, Maria, Martini, Joyce, Polido, Graziela, Rodrigues Iannicelli, Juliana, Caires de Oliveira Achili Ferreira, Juliana, Hu, Chaoping, Zhu, Xiaomei, Qian, Chen, Shen, Li, Li, Hui, Shi, Yiyun, Zhou, Shuizhen, Xiao, Ying, Zhou, Zhenxuan, Wang, Sujuan, Sang, Tian, Wei, Cuijie, Dong, Hui, Cao, Yiwen, Wen, Jing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Celovec, Ivan, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Tomas, Josipa, Boespflug-Tanguy, Odile, De Lucia, Silvana, Seferian, Andrea, Barreau, Emmanuel, Mnafek, Nabila, Peche, Helene, Grange, Allison, Trang Nguyen, Diem, Milascevic, Darko, Tachibana, Shotaro, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Dosi, Claudia, Zanin, Riccardo, Schembri, Veronica, Brolatti, Noemi, Rao, Giuseppe, Tassara, Elisa, Morando, Simone, Tacchetti, Paola, Pedemonte, Marina, Priolo, Enrico, Sposetti, Lorenza, Comi, Giacomo Pietro, Govoni, Alessandra, Osnaghi, Silvia Gabriella, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Pane, Marika, Palermo, Concetta, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Leone, Daniela, Laura, Antonaci, De Sanctis, Roberto, Berti, Beatrice, Kimura, Naoki, Takeshima, Yasuhiro, Shimomura, Hideki, Lee, Tomoko, Gomi, Fumi, Morimatsu, Takanobu, Furukawa, Toru, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Modrzejewska, Sandra, Lemska, Anna, Melnik, Evgenia, Artemyeva, Svetlana, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Litvinova, Elena, Enzmann, Cornelia, Galiart, Elea, Gugleta, Konstantin, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ertugrul, Nesibe Eroglu, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Sari, Seher, Bilgin, Neslihan, Karaduman, Aynur Ayse, Sarikaya, Fatma Gokcem Yildiz, Graham, Robert J, Ghosh, Partha, Casavant, David, Levine, Alexis, Titus, Rachael, Engelbrekt, Amanda, Ambrosio, Lucia, Fulton, Anne, Baglieri, Anna Maria, Dias, Courtney, Maczek, Elizabeth, Pasternak, Amy, Beres, Shannon, Duong, Tina, Gee, Richard, Young, Sally, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Servais, Laurent, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Day, John W, Deconinck, Nicolas, Klein, Andrea, Mercuri, Eugenio, Vlodavets, Dmitry, Wang, Yi, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Jaber, Birgit, Kletzl, Heidemarie, Gaki, Eleni, Fontoura, Paulo, and Darras, Basil T

Published
2022
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13. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

Author

Coratti, Giorgia, Carmela Pera, Maria, Montes, Jacqueline, Scoto, Mariacristina, Pasternak, Amy, Bovis, Francesca, Sframeli, Maria, D'Amico, Adele, Pane, Marika, Albamonte, Emilio, Antonaci, Laura, Lia Frongia, Anna, Mizzoni, Irene, Sansone, Valeria A, Russo, Massimo, Bruno, Claudio, Baranello, Giovanni, Messina, Sonia, Dunaway Young, Sally, Glanzman, Allan M, Duong, Tina, de Sanctis, Roberto, Stacy Mazzone, Elena, Milev, Evelin, Rohwer, Annemarie, Civitello, Matthew, Darras, Basil T, Bertini, Enrico, Day, John, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard S, and Mercuri, Eugenio

Published
2022
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16. Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility

Author

Harding, Elizabeth R., primary, Kanner, Cara H., additional, Pasternak, Amy, additional, Glanzman, Allan M., additional, Dunaway Young, Sally, additional, Rao, Ashwini K., additional, McDermott, Michael P., additional, Zolkipli-Cunningham, Zarazuela, additional, Day, John W., additional, Finkel, Richard S., additional, Darras, Basil T., additional, De Vivo, Darryl C., additional, and Montes, Jacqueline, additional

Published
2024
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17. Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy

Author

Straub, Volker, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Maggi, Lorenzo, Baranello, Giovanni, Flanigan, Kevin M., Kuntz, Nancy L., Manzur, Adnan Y., Darras, Basil T., Kang, Peter, Mah, Jean K., Mongini, Tiziana, Ricci, Federica, Morrison, Leslie, Krzesniak-Swinarska, Monika, von der Hagen, Maja, Finkel, Richard S., Kumar, Ashutosh, Wicklund, Matthew, McDonald, Craig M., Henricson, Erik K., Schara-Schmidt, Ulrike, Wilichowski, Ekkehard, Barohn, Richard J., Statland, Jeffrey, Kirschner, Janbernd, Vita, Giuseppe, Vita, Gian Luca, Howard, James F., Jr., Hughes, Imelda, McMillan, Hugh J., Pegoraro, Elena, Bello, Luca, Burnette, W. Bryan, Thangarajh, Mathula, Chang, Taeun, Campbell, Craig, McColl, Elaine, McDermott, Michael P., Martens, William B., Guglieri, Michela, and Griggs, Robert C.

Published
2021
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18. Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen

Author

Coratti, Giorgia, Pane, Marika, Lucibello, Simona, Pera, Maria Carmela, Pasternak, Amy, Montes, Jacqueline, Sansone, Valeria A, Duong, Tina, Dunaway Young, Sally, Messina, Sonia, D'Amico, Adele, Civitello, Matthew, Glanzman, Allan M, Bruno, Claudio, Salmin, Francesca, Tacchetti, Paola, Carnicella, Sara, Sframeli, Maria, Antonaci, Laura, Frongia, Anna Lia, De Vivo, Darryl C., Darras, Basil T., Day, John, Bertini, Enrico, Muntoni, Francesco, Finkel, Richard, and Mercuri, Eugenio

Published
2021
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19. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

Author

Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, and Mendell, Jerry R

Published
2021
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21. Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study

Author

Rudnicki, Stacy A., Andrews, Jinsy A., Duong, Tina, Cockroft, Bettina M., Malik, Fady I., Meng, Lisa, Wei, Jenny, Wolff, Andrew A., Genge, Angela, Johnson, Nicholas E., Tesi-Rocha, Carolina, Connolly, Anne M., Darras, Basil T., Felice, Kevin, Finkel, Richard S., Shieh, Perry B., Mah, Jean K., Statland, Jeffrey, Campbell, Craig, Habib, Ali A., Kuntz, Nancy L., Oskoui, Maryam, and Day, John W.

Published
2021
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22. Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study.

Author

Crawford, Thomas O., Day, John W., De Vivo, Darryl C., Krueger, Jena M., Mercuri, Eugenio, Nascimento, Andres, Pasternak, Amy, Mazzone, Elena Stacy, Duong, Tina, Guochen Song, Marantz, Jing L., Baver, Scott, Dongzi Yu, Lan Liu, and Darras, Basil T.

Subjects
SPINAL muscular atrophy, COMPUTER adaptive testing, RESPIRATORY infections, COVID-19, FATIGUE (Physiology)
Abstract

Background and purpose: At 12 months in the phase 2 TOPAZ study, treatment with apitegromab was associated with both an improved motor function in patients with Type 2 or 3 spinal muscular atrophy (SMA) and with a favorable safety profile. This manuscript reports the extended efficacy and safety in the nonambulatory group of the TOPAZ study at 36 months. Methods: Patients who completed the primary study (NCT03921528) could enroll in an open-label extension, during which patients received apitegromab 20 mg/kg by intravenous infusion every 4 weeks. Patients were assessed periodically via the Hammersmith Functional Motor Scale-Expanded (HFMSE), Revised Upper Limb Module (RULM), World Health Organization (WHO) motor development milestones, Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) Daily Activities and Mobility domains, and Patient-Reported Outcomes Measurement Information System (PROMIS) Fatigue questionnaire. Results: Of the 58 patients enrolled in TOPAZ, 35 were nonambulatory (mean age 7.3 years). The mean change at 36 months in HFMSE score from baseline was +4.0 (standard deviation [SD]: 7.54), and + 2.4 (3.24) for RULM score (excluding n = 7 after scoliosis surgery). Caregiver-reported outcomes (PEDI-CAT and PROMIS Fatigue) showed improvements from baseline over 36 months. In addition, most patients (28/32) improved or maintained WHO motor milestones achieved at baseline. The most frequently reported treatment-emergent adverse events were pyrexia (48.6%), nasopharyngitis (45.7%), COVID-19 infection (40.0%), vomiting (40.0%), and upper respiratory tract infection (31.4%). Conclusion: The benefit of apitegromab treatment observed at 12 months was sustained at 36 months with no new safety findings. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls.

Author

Iff, Joel, Done, Nicolae, Tuttle, Edward, Zhong, Yi, Wei, Fangzhou, Darras, Basil T., McDonald, Craig M., Mercuri, Eugenio, and Muntoni, Francesco

Abstract

Introduction/Aims: Eteplirsen, approved in the US for patients with Duchenne muscular dystrophy (DMD) with exon 51 skip‐amenable variants, is associated with attenuated ambulatory/pulmonary decline versus DMD natural history (NH). We report overall survival in a US cohort receiving eteplirsen and contextualize these outcomes versus DMD NH. Methods: US patients with DMD receiving eteplirsen were followed through a patient support program, with data collected on ages at eteplirsen initiation and death/end of follow‐up. Individual DMD NH data were extracted by digitizing Kaplan–Meier (KM) curves from published systematic and targeted literature reviews. Overall survival age was analyzed using KM curves and contextualized with DMD NH survival curves; subanalyses considered age groups and duration of eteplirsen exposure. Overall survival time from treatment initiation was also evaluated. Results: A total of 579 eteplirsen‐treated patients were included. During a total follow‐up of 2119 person‐years, median survival age was 32.8 years. DMD NH survival curves extracted from four publications (follow‐up for 1224 DMD NH controls) showed overall pooled median survival age of 27.4 years. Eteplirsen‐treated patients had significantly longer survival from treatment initiation versus age‐matched controls (age‐adjusted hazard ratio [HR], 0.65; 95% confidence interval [CI], 0.44–0.98; p <.05). Longer treatment exposure was associated with improved survival (HR, 0.15; 95% CI, 0.05–0.41; p <.001). Comparisons using different DMD NH cohorts to address common risks of bias yielded consistent findings. Discussion: Data suggest eteplirsen may prolong survival in patients with DMD across a wide age range. As more data become available, the impact of eteplirsen on survival will be further elucidated. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Nusinersen Treatment in Adults with Spinal Muscular Atrophy

Author

Duong, Tina, Wolford, Connie, McDermott, Michael P., Macpherson, Chelsea E., Pasternak, Amy, Glanzman, Allan M., Martens, William B., Kichula, Elizabeth, Darras, Basil T., De Vivo, Darryl C., Zolkipli-Cunningham, Zarazuela, Finkel, Richard S., Zeineh, Michael, Wintermark, Max, Sampson, Jacinda, Hagerman, Katharine A., Young, Sally Dunaway, and Day, John W.

Published
2021
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30. List of contributors

Author

Artukoglu, Bekir B., primary, Bachoo, Robert M., additional, Baranzini, Sergio E., additional, Benson, Merrill D., additional, Biglan, Kevin, additional, Blakeney, Iona, additional, Bloch, Michael H., additional, Brady, Melanie, additional, Brandsema, John F., additional, Broccolini, Aldobrando, additional, Brown, Robert H., additional, Cohen, Bernard, additional, Cole, Jordan J., additional, Comi, Anne M., additional, Crabbe, John C., additional, Darras, Basil T., additional, Dowling, Michael M., additional, Dunn, Walter, additional, Elroy-Stein, Orna, additional, Elsheikh, Bakri H., additional, Engel, Andrew G., additional, Fahn, Stanley, additional, Fasching, Liana, additional, Fears, Scott C., additional, Felling, Ryan J., additional, Ferner, Rosalie E., additional, Fink, John K., additional, Gillespie, Charles F., additional, Goldman, Alica M., additional, Goldman, Jill, additional, Gutmann, David H., additional, Haltia, Matti, additional, Hauser, Stephen L., additional, Hilbert, James E., additional, Iliopoulos, Othon, additional, Islam, Monica P., additional, Jenkins, Aaron K., additional, Jia, Xiaoming, additional, Jungbluth, Heinz, additional, Kayani, Saima N., additional, Khemani, Pravin, additional, Kirkham, Fenella J., additional, Kirkorian, A. Yasmine, additional, Kissel, John T., additional, Klein, Christine, additional, Kleopa, Kleopas A., additional, Kolb, Stephen J., additional, Konstantakou, Eumorphia, additional, Lambracht-Washington, Doris, additional, Lennington, Jessica B., additional, Lewis, David A., additional, Liang, Wen-Chen, additional, Lidstone, Paven A., additional, Lohmann, Katja, additional, Lombroso, Paul J., additional, Maher, Elizabeth A., additional, Marshall, Frederick, additional, McCann, Meghan, additional, McGarry, Andrew, additional, Meola, Giovanni, additional, Metelo, Ana, additional, Miller, Bruce L., additional, Mirabella, Massimiliano, additional, Mizutani, Shuki, additional, Mole, Sara E., additional, Moxley, Richard T., additional, Muntoni, Francesco, additional, Nemeroff, Charles B., additional, Nishino, Ichizo, additional, Noebels, Jeffrey L., additional, Pandolfo, Massimo, additional, Pevsner, Jonathan, additional, Ptáček, Louis, additional, Ralph, Jeffrey, additional, Renthal, William, additional, Reus, Victor I., additional, Roach, E. Steve, additional, Rosenberg, Roger N., additional, Savarese, Antonia M., additional, Sawyer, Russell P., additional, Scherer, Steven S., additional, Schiffmann, Raphael, additional, Schulz, Angela, additional, Sewry, Caroline, additional, Shakkottai, Vikram G., additional, Shinagawa, Shunichiro, additional, Singh, Pratibha, additional, Sreedharan, Jemeen, additional, Statland, Jeffrey M., additional, Szabo, Steven T., additional, Szuhay, Gabor, additional, Udd, Bjarne, additional, Vaccarino, Flora M., additional, Volk, David W., additional, Wilson, Kathleen S., additional, Xia, Weiming, additional, and Yu, Gang, additional

Published
2020
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32. Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

Author

Bartlett, Amy, Kolb, Stephen J., Kingsley, Allison, Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan T., Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Coffey, Christopher S., Yankey, Jon W., Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Arnold, W. David, and Kissel, John T.

Published
2018
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35. Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study

Author

Trucco, Federica, Ridout, Deborah, Scoto, Mariacristina, Coratti, Giorgia, Main, Marion L., Muni Lofra, Robert, Mayhew, Anna G., Montes, Jacqueline, Pane, Marika, Sansone, Valeria, Albamonte, Emilio, DʼAmico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Parasuraman, Deepak, Childs, Anne-Marie, Gowda, Vasantha, Willis, Tracey, Ong, Min, Marini-Bettolo, Chiara, De Vivo, Darryl C., Darras, Basil T., Day, John, Kichula, Elizabeth A., Mayer, Oscar H., Navas Nazario, Aledie A., Finkel, Richard S., Mercuri, Eugenio, Muntoni, Francesco, De Sanctis, Roberto, Pirola, Alice, Longo, Antonella, Sframeli, Maria, Pedemonte, Marina, Pallant, Lindsey, Wraige, Elizabeth, Turner, Sarah, White, Kay, Glanzman, Allan M., Civitello, Matthew, Berardinelli, Angela, Baranello, Giovanni, Spinty, Stefan, Majumbdar, Anirban, Huges, Imelda, Krishnakumar, Deepa, Chow, Gabriel, Thomas, Neil, and Ramdas, Sithara

Published
2021
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36. Identifying Biomarkers of Spinal Muscular Atrophy for Further Development

Author

Glascock, Jacqueline, primary, Darras, Basil T., additional, Crawford, Thomas O., additional, Sumner, Charlotte J., additional, Kolb, Stephen J., additional, DiDonato, Christine, additional, Elsheikh, Bakri, additional, Howell, Kelly, additional, Farwell, Wildon, additional, Valente, Marta, additional, Petrillo, Marco, additional, Tingey, Jessica, additional, and Jarecki, Jill, additional

Published
2023
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37. Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment

Author

McGrattan, Katlyn E., primary, Shell, Richard D., additional, Hurst-Davis, Rebecca, additional, Young, Sally Dunaway, additional, O’Brien, Eamonn, additional, Lavrov, Arseniy, additional, Wallach, Shiri, additional, LaMarca, Nicole, additional, Reyna, Sandra P., additional, and Darras, Basil T., additional

Published
2023
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38. Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function

Author

Dunaway Young, Sally, primary, Montes, Jacqueline, additional, Glanzman, Allan M., additional, Gee, Richard, additional, Day, John W., additional, Finkel, Richard S., additional, Darras, Basil T., additional, De Vivo, Darryl C., additional, Gambino, Giulia, additional, Foster, Richard, additional, Wong, Janice, additional, Garafalo, Steve, additional, and Berger, Zdenek, additional

Published
2023
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39. Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3

Author

Wolfe, Amy, Stimpson, Georgia, Ramsey, Danielle, Coratti, Giorgia, Dunaway Young, Sally, Mayhew, Anna, Pane, Marika, Rohwer, Annemarie, Muni Lofra, Robert, Duong, Tina, O’Reilly, Emer, Milev, Evelin, Civitello, Matthew, Sansone, Valeria A., D’Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena, Main, Marion, Montes, Jacqueline, Glanzman, Allan M., Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Marini-Bettolo, Chiara, Day, John W., Darras, Basil T., De Vivo, Darryl C., Baranello, Giovanni, Scoto, Mariacristina, Finkel, Richard S., Mercuri, Eugenio, and Muntoni, Francesco

Abstract

Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS).Objective: In this study, we present longitudinal trajectories for the RHS in an international cohort of 149 untreated paediatric SMA 2 and 3 patients (across 531 assessments collected between March 2015 and July 2019).Methods: We contextualise these trajectories using both the Hammersmith Functional Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM). At baseline, this cohort included 50% females and 15% of patients had undergone spinal fusion surgery. Patient trajectories were modelled using a natural cubic spline with age, sex, and random effects for each patient.Results: RHS and HFMSE scores show similar trends over time in this cohort not receiving disease modifying therapies. The results confirm the strong correlation between the RHS and RULM previously observed in SMA types 2 and 3a. Scoliosis surgery is associated with a reduction of 3 points in the RHS, 4.5 points in the HFMSE for the SMA 2 population, and a reduction of 11.8 points in the RHS, and 13.4 points in the HFMSE for the SMA 3a populations. When comparing the RHS and RULM, there is a lower correlation in the type 3a’s than the type 2 patients. In the SMA 2 population, there is no significant difference between the sexes in either the RHS or HFMSE trajectories. There is no significant difference in the RULM trajectory in the SMA 2 or 3a participants by sex.Conclusions: This study demonstrates that the RHS could be used in conjunction with other functional measures such as the RULM to holistically detect SMA disease progression. This will assist with fully understanding changes that occur with treatments, further defining trajectories and therapy outcomes.

Published
2024
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40. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

Alfano, Lindsay N, Eagle, Michelle, James, Meredith K, Lowes, Linda, Mayhew, Anna, Mazzone, Elena S, Nelson, Leslie, Rose, Kristy J, Abdel-Hamid, Hoda Z, Apkon, Susan D, Barohn, Richard J, Bertini, Enrico, Bloetzer, Clemens, de Vaud, Lausanne Canton, Butterfield, Russell J, Chabrol, Brigitte, Chae, Jong-Hee, Jongno-gu, Daehak-ro, Comi, Giacomi Pietro, Darras, Basil T, Dastgir, Jahannaz, Desguerre, Isabelle, Escobar, Raul G, Finanger, Erika, Guglieri, Michela, Hughes, Imelda, Iannaccone, Susan T, Jones, Kristi J, Karachunski, Peter, Kudr, Martin, Lotze, Timothy, Mah, Jean K, Mathews, Katherine, Nevo, Yoram, Parsons, Julie, Péréon, Yann, de Queiroz Campos Araujo, Alexandra Prufer, Renfroe, J Ben, de Resende, Maria Bernadete Dutra, Ryan, Monique, Selby, Kathryn, Tennekoon, Gihan, Vita, Giuseppe, McDonald, Craig M, Campbell, Craig, Torricelli, Ricardo Erazo, Finkel, Richard S, Flanigan, Kevin M, Goemans, Nathalie, Heydemann, Peter, Kaminska, Anna, Kirschner, Janbernd, Muntoni, Francesco, Osorio, Andrés Nascimento, Schara, Ulrike, Sejersen, Thomas, Shieh, Perry B, Sweeney, H Lee, Topaloglu, Haluk, Tulinius, Már, Vilchez, Juan J, Voit, Thomas, Wong, Brenda, Elfring, Gary, Kroger, Hans, Luo, Xiaohui, McIntosh, Joseph, Ong, Tuyen, Riebling, Peter, Souza, Marcio, Spiegel, Robert J, Peltz, Stuart W, and Mercuri, Eugenio

Published
2017
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44. Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.

Author

Armengol, Victor D., Darras, Basil T., Abulaban, Ahmad A., Alshehri, Ali, Barisic, Nina, Ben-Omran, Tawfeg, Bernert, Guenther, Castiglioni, Claudia, Yin-Hsiu Chien, Farrar, Michelle A., Kandawasvika, Gwendoline, Khadilkar, Satish, Mah, Jean, Marini-Bettolo, Chiara, Osredkar, Damjan, Pfeffer, Gerald, Piazzon, Flavia B., Castellano, Inmaculada Pitarch, Quijano-Roy, Susana, and Kayoko Saito

Published
2024
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48. X-linked myotubular myopathy: A prospective international natural history study

Author

Annoussamy, Mélanie, Lilien, Charlotte, Gidaro, Teresa, Gargaun, Elena, Chê, Virginie, Schara, Ulrike, Gangfuß, Andrea, DʼAmico, Adele, Dowling, James J., Darras, Basil T., Daron, Aurore, Hernandez, Arturo, de Lattre, Capucine, Arnal, Jean-Michel, Mayer, Michèle, Cuisset, Jean-Marie, Vuillerot, Carole, Fontaine, Stéphanie, Bellance, Rémi, Biancalana, Valérie, Buj-Bello, Ana, Hogrel, Jean-Yves., Landy, Hal, and Servais, Laurent

Published
2019
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49. Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)

Author

Finkel, Richard S., primary, Darras, Basil T., additional, Mendell, Jerry R., additional, Day, John W., additional, Kuntz, Nancy L., additional, Connolly, Anne M., additional, Zaidman, Craig M., additional, Crawford, Thomas O., additional, Butterfield, Russell J., additional, Shieh, Perry B., additional, Tennekoon, Gihan, additional, Brandsema, John F., additional, Iannaccone, Susan T., additional, Shoffner, John, additional, Kavanagh, Sarah, additional, Macek, Thomas A., additional, and Tauscher-Wisniewski, Sitra, additional

Published
2023
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