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1. Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial

Author

Lawlor, Michael W., Schoser, Benedikt, Margeta, Marta, Sewry, Caroline A., Jones, Karra A., Shieh, Perry B., Kuntz, Nancy L., Smith, Barbara K., Dowling, James J., Müller-Felber, Wolfgang, Bönnemann, Carsten G., Seferian, Andreea M., Blaschek, Astrid, Neuhaus, Sarah, Foley, A. Reghan, Saade, Dimah N., Tsuchiya, Etsuko, Qasim, Ummulwara R., Beatka, Margaret, Prom, Mariah J., Ott, Emily, Danielson, Susan, Krakau, Paul, Kumar, Suresh N., Meng, Hui, Vanden Avond, Mark, Wells, Clive, Gordish-Dressman, Heather, Beggs, Alan H., Christensen, Sarah, Conner, Edward, James, Emma S., Lee, Jun, Sadhu, Chanchal, Miller, Weston, Sepulveda, Bryan, Varfaj, Fatbardha, Prasad, Suyash, and Rico, Salvador

Published
2024
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2. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

Author

Shieh, Perry B, Kuntz, Nancy L, Dowling, James J, Müller-Felber, Wolfgang, Bönnemann, Carsten G, Seferian, Andreea M, Servais, Laurent, Smith, Barbara K, Muntoni, Francesco, Blaschek, Astrid, Foley, A Reghan, Saade, Dimah N, Neuhaus, Sarah, Alfano, Lindsay N, Beggs, Alan H, Buj-Bello, Ana, Childers, Martin K, Duong, Tina, Graham, Robert J, Jain, Minal, Coats, Julie, MacBean, Vicky, James, Emma S, Lee, Jun, Mavilio, Fulvio, Miller, Weston, Varfaj, Fatbardha, Murtagh, Michael, Han, Cong, Noursalehi, Mojtaba, Lawlor, Michael W, Prasad, Suyash, and Rico, Salvador

Published
2023
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3. Spinal Muscular Atrophy Update in Best Practices

Author

Schroth, Mary, primary, Deans, Jennifer, additional, Arya, Kapil, additional, Castro, Diana, additional, De Vivo, Darryl C., additional, Gibbons, Melissa A., additional, Ionita, Cristian, additional, Kuntz, Nancy L., additional, Lakhotia, Arpita, additional, Neil Knierbein, Erin, additional, Scoto, Mariacristina, additional, Sejersen, Thomas, additional, Servais, Laurent, additional, Tian, Cuixia, additional, Waldrop, Megan A., additional, and Vázquez-Costa, Juan F., additional

Published
2024
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4. 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

5. International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update.

Author

Narayanaswami, Pushpa, Sanders, Donald B, Wolfe, Gil, Benatar, Michael, Cea, Gabriel, Evoli, Amelia, Gilhus, Nils Erik, Illa, Isabel, Kuntz, Nancy L, Massey, Janice, Melms, Arthur, Murai, Hiroyuki, Nicolle, Michael, Palace, Jacqueline, Richman, David, and Verschuuren, Jan

Subjects
Humans, Myasthenia Gravis, Methotrexate, Immunosuppressive Agents, Thymectomy, Consensus, Disease Management, Antibodies, Monoclonal, Humanized, Rituximab, Immune Checkpoint Inhibitors, Rare Diseases, Autoimmune Disease, Neurosciences, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo update the 2016 formal consensus-based guidance for the management of myasthenia gravis (MG) based on the latest evidence in the literature.MethodsIn October 2013, the Myasthenia Gravis Foundation of America appointed a Task Force to develop treatment guidance for MG, and a panel of 15 international experts was convened. The RAND/UCLA appropriateness method was used to develop consensus recommendations pertaining to 7 treatment topics. In February 2019, the international panel was reconvened with the addition of one member to represent South America. All previous recommendations were reviewed for currency, and new consensus recommendations were developed on topics that required inclusion or updates based on the recent literature. Up to 3 rounds of anonymous e-mail votes were used to reach consensus, with modifications to recommendations between rounds based on the panel input. A simple majority vote (80% of panel members voting "yes") was used to approve minor changes in grammar and syntax to improve clarity.ResultsThe previous recommendations for thymectomy were updated. New recommendations were developed for the use of rituximab, eculizumab, and methotrexate as well as for the following topics: early immunosuppression in ocular MG and MG associated with immune checkpoint inhibitor treatment.ConclusionThis updated formal consensus guidance of international MG experts, based on new evidence, provides recommendations to clinicians caring for patients with MG worldwide.

Published
2021

6. Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians

Author

Veerapandiyan, Aravindhan, primary, Connolly, Anne M., additional, Mathews, Katherine D., additional, Nelson, Stanley, additional, McDonald, Craig, additional, Finkel, Richard S., additional, Vedanarayanan, Vettaikorumakankav, additional, Tian, Cuixia, additional, Apkon, Susan, additional, Parsons, Julie A., additional, Soslow, Jonathan H., additional, Burnette, William Bryan, additional, Batley, Kaitlin Y., additional, Iannaccone, Susan T., additional, Rocha, Carolina Tesi, additional, Flanigan, Kevin M., additional, Bharucha‐Goebel, Diana, additional, Wright, Sarah, additional, Monduy, Migvis, additional, Treidler, Simona, additional, Kumar, Ashutosh, additional, Kuntz, Nancy L., additional, Rao, Vamshi K., additional, Schrader, Rachel, additional, Bernes, Saunder M., additional, Stefans, Vikki Ann, additional, Krueger, Jena M., additional, Felker, Marcia V., additional, Hamid, Omer Abdul, additional, Lakhotia, Arpita, additional, Matesanz, Susan, additional, Ghosh, Partha S., additional, Katz, Natalie, additional, Abdel‐Hamid, Hoda, additional, Laverty, Chamindra G., additional, Lee, Bo Hoon, additional, Harper, Amy, additional, Ramos‐Platt, Leigh, additional, Castro, Diana, additional, Butterfield, Russell J., additional, Proud, Crystal M., additional, Zaidman, Craig M., additional, and Ciafaloni, Emma, additional

Published
2024
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9. Use of the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) in Spinal Muscular Atrophy

Author

Brown, Laurey, primary, Hoffman, Katie, additional, Corbo-Galli, Chiara, additional, Dong, Siyuan, additional, Zumpf, Katelyn, additional, Weigel, Christa, additional, Blomgren, Colleen, additional, Munson, Hannah, additional, Bidwell, Jessa, additional, Rao, Vamshi, additional, Kuntz, Nancy L., additional, Schwaede, Abigail, additional, and Krosschell, Kristin J., additional

Published
2024
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10. 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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11. 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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12. 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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13. Findings from the Longitudinal CINRG Becker Natural History Study

Author

Clemens, Paula R., primary, Gordish-Dressman, Heather, additional, Niizawa, Gabriela, additional, Gorni, Ksenija, additional, Guglieri, Michela, additional, Connolly, Anne M., additional, Wicklund, Matthew, additional, Bertorini, Tulio, additional, Mah, Jean, additional, Thangarajh, Mathula, additional, Smith, Edward C., additional, Kuntz, Nancy L., additional, McDonald, Craig M., additional, Henricson, Erik, additional, Upadhyayula, S, additional, Byrne, Barry, additional, Manousakis, Georgios, additional, Harper, Amy, additional, Iannaccone, Susan, additional, and Dang, Utkarsh J., additional

Published
2024
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16. 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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17. Longitudinal Assessment of Timed Function Tests Over Time in Ambulatory Individuals with SMA Treated with Nusinersen

Author

Krosschell, Kristin J., primary, Brown, Laurey, additional, Hoffman, Katie, additional, Zumpf, Katelyn B., additional, Munson, Hannah, additional, Bidwell, Jessa, additional, Schulte, Duncan P., additional, Schwaede, Abigail N., additional, Buehner, Amber N., additional, DiDonato, Christine J., additional, Kuntz, Nancy L., additional, and Rao, Vamshi K., additional

Published
2023
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18. Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function

Author

Hoffman, Eric P., Schwartz, Benjamin D., Mengle-Gaw, Laurel J., Smith, Edward C., Castro, Diana, Mah, Jean K., McDonald, Craig M., Kuntz, Nancy L., Finkel, Richard S., Guglieri, Michela, Bushby, Katharine, Tulinius, Mar, Nevo, Yoram, Ryan, Monique M., Webster, Richard, Smith, Andrea L., Morgenroth, Lauren P., Arrieta, Adrienne, Shimony, Maya, Siener, Catherine, Jaros, Mark, Shale, Phil, McCall, John M., Nagaraju, Kanneboyina, van den Anker, John, Conklin, Laurie S., Cnaan, Avital, Gordish-Dressman, Heather, Damsker, Jesse M., and Clemens, Paula R.

Published
2019
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20. Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study.

Author

Crawford, Thomas O., Swoboda, Kathryn J., De Vivo, Darryl C., Bertini, Enrico, Hwu, Wuh‐Liang, Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Nazario, Aledie Navas, Parsons, Julie A., Pechmann, Astrid, Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben‐Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh‐Jyh, Shu, Francy, Zhu, Cong, and Raynaud, Stephanie

Abstract

Introduction/Aims: NURTURE (NCT02386553) is an open‐label study of nusinersen in children (two SMN2 copies, n = 15; three SMN2 copies, n = 10) who initiated treatment in the presymptomatic stage of spinal muscular atrophy (SMA). A prior analysis after ~3 y showed benefits on survival, respiratory outcomes, motor milestone achievement, and a favorable safety profile. An additional 2 y of follow‐up (data cut: February 15, 2021) are reported. Methods: The primary endpoint is time to death or respiratory intervention (≥6 h/day continuously for ≥7 days or tracheostomy). Secondary outcomes include overall survival, motor function, and safety. Results: Median age of children was 4.9 (3.8–5.5) y at last visit. No children have discontinued the study or treatment. All were alive. No additional children utilized respiratory intervention (defined per primary endpoint) since the prior data cut. Children with three SMN2 copies achieved all World Health Organization (WHO) motor milestones, with all but one milestone in one child within normal developmental timeframes. All 15 children with two SMN2 copies achieved sitting without support, 14/15 walking with assistance, and 13/15 walking alone. Mean Hammersmith Functional Motor Scale Expanded total scores showed continued improvement. Subgroups with two SMN2 copies, minimum baseline compound muscle action potential amplitude ≥2 mV, and no baseline areflexia had better motor and nonmotor outcomes versus all children with two SMN2 copies. Discussion: These results demonstrate the value of early treatment, durability of treatment effect, and favorable safety profile after ~5 y of nusinersen treatment. Inclusion/exclusion criteria and baseline characteristics should be considered when interpreting presymptomatic SMA trial data. [ABSTRACT FROM AUTHOR]

Published
2023
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21. Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy

Author

Guglieri, Michela, primary, Clemens, Paula R., additional, Perlman, Seth J., additional, Smith, Edward C., additional, Horrocks, Iain, additional, Finkel, Richard S., additional, Mah, Jean K., additional, Deconinck, Nicolas, additional, Goemans, Nathalie, additional, Haberlova, Jana, additional, Straub, Volker, additional, Mengle-Gaw, Laurel J., additional, Schwartz, Benjamin D., additional, Harper, Amy D., additional, Shieh, Perry B., additional, De Waele, Liesbeth, additional, Castro, Diana, additional, Yang, Michelle L., additional, Ryan, Monique M., additional, McDonald, Craig M., additional, Tulinius, Mar, additional, Webster, Richard, additional, McMillan, Hugh J., additional, Kuntz, Nancy L., additional, Rao, Vashmi K., additional, Baranello, Giovanni, additional, Spinty, Stefan, additional, Childs, Anne-Marie, additional, Sbrocchi, Annie M., additional, Selby, Kathryn A., additional, Monduy, Migvis, additional, Nevo, Yoram, additional, Vilchez-Padilla, Juan J., additional, Nascimento-Osorio, Andres, additional, Niks, Erik H., additional, de Groot, Imelda J.M., additional, Katsalouli, Marina, additional, James, Meredith K., additional, van den Anker, Johannes, additional, Damsker, Jesse M., additional, Ahmet, Alexandra, additional, Ward, Leanne M., additional, Jaros, Mark, additional, Shale, Phil, additional, Dang, Utkarsh J., additional, and Hoffman, Eric P., additional

Published
2022
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22. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

Author

Mercuri, Eugenio, Darras, Basil T., Chiriboga, Claudia A., Day, John W., Campbell, Craig, Connolly, Anne M., Iannaccone, Susan T., Kirschner, Janbernd, Kuntz, Nancy L., Saito, Kayoko, Shieh, Perry B., Tulinius, Már, Mazzone, Elena S., Montes, Jacqueline, Bishop, Kathie M., Yang, Qingqing, Foster, Richard, Gheuens, Sarah, Bennett, Frank C., Farwell, Wildon, Schneider, Eugene, De Vivo, Darryl C., and Finkel, Richard S.

Published
2018
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23. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Author

Finkel, Richard S., Mercuri, Eugenio, Darras, Basil T., Connolly, Anne M., Kuntz, Nancy L., Kirschner, Janbernd, Chiriboga, Claudia A., Saito, Kayoko, Servais, Laurent, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Már, Montes, Jacqueline, Glanzman, Allan M., Bishop, Kathie, Zhong, Z. John, Gheuens, Sarah, Bennett, C. Frank, Schneider, Eugene, Farwell, Wildon, and De Vivo, Darryl C.

Published
2017
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25. A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial

Author

Crow, Rebecca A., Hart, Kimberly A., McDermott, Michael P., Tawil, Rabi, Martens, William B., Herr, Barbara E., McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M., Eagle, Michele, Brown, Mary W., Hirtz, Deborah, Lochmuller, Hanns, Straub, Volker, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan Y., Morandi, Lucia, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Flanigan, Kevin M., Kuntz, Nancy L., Mah, Jean K., Morrison, Leslie, Darras, Basil T., von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, McDonald, Craig M., Vita, Giuseppe, Barohn, Richard J., Finkel, Richard S., Wicklund, Matthew, McMillan, Jr, Hugh J., Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W., Howard, James F., Thangarajh, Mathula, Campbell, Craig, Griggs, Robert C., Bushby, Kate, and Guglieri, Michela

Published
2018
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28. Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

Author

Mah, Jean K., Clemens, Paula R., Guglieri, Michela, Smith, Edward C., Finkel, Richard S., Tulinius, Mar, Nevo, Yoram, Ryan, Monique M., Webster, Richard, Castro, Diana, Kuntz, Nancy L., McDonald, Craig M., Damsker, Jesse M., Schwartz, Benjamin D., Mengle-Gaw, Laurel J., Jackowski, Stefan, Stimpson, Georgia, Ridout, Deborah A., Ayyar-Gupta, Vandana, Baranello, Giovanni, Manzur, Adnan Y., Muntoni, Francesco, Gordish-Dressman, Heather, Leinonen, Mika, Ward, Leanne M., Hoffman, Eric P., and Dang, Utkarsh J.

Subjects
Male, Research, Anti-Inflammatory Agents, Body Height, United Kingdom, Muscular Dystrophy, Duchenne, Online Only, Treatment Outcome, Neurology, Child, Preschool, Humans, Muscle Strength, Child, Glucocorticoids, Pregnadienediols, Original Investigation
Abstract

This nonrandomized controlled trial examines efficacy of vamorolone treatment for Duchenne muscular dystrophy among boys compared with glucocorticoid treatment., Key Points Question Is long-term treatment with vamorolone associated with sustained disease modification and decrease of glucocorticoid-associated adverse outcomes among patients with Duchenne muscular dystrophy (DMD)? Findings In this nonrandomized controlled trial of 46 boys with DMD, higher-dose vamorolone treatment for up to 30 months was not associated with a change in time to stand velocity. Vamorolone was associated with continued disease-modification and similar efficacy compared with glucocorticoid treatment from 2 historical control cohorts, and long-term vamorolone treatment was associated with decreased adverse outcomes compared with traditional glucocorticoid therapy. Meaning These findings suggest that vamorolone may have potential as a standard of care disease-modifying treatment for boys with DMD., Importance Vamorolone is a synthetic steroidal drug with potent anti-inflammatory properties. Initial open-label, multiple ascending dose-finding studies of vamorolone among boys with Duchenne muscular dystrophy (DMD) found significant motor function improvement after 6 months treatment in higher-dose (ie, ≥2.0 mg/kg/d) groups. Objective To investigate outcomes after 30 months of open-label vamorolone treatment. Design, Setting, and Participants This nonrandomized controlled trial was conducted by the Cooperative International Neuromuscular Research Group at 11 US and non-US study sites. Participants were 46 boys ages 4.5 to 7.5 years with DMD who completed the 6-month dose-finding study. Data were analyzed from July 2020 through November 2021. Interventions Participants were enrolled in a 24-month, long-term extension (LTE) study with vamorolone dose escalated to 2.0 or 6.0 mg/kg/d. Main Outcomes and Measures Change in time-to-stand (TTSTAND) velocity from dose-finding baseline to end of LTE study was the primary outcome. Efficacy assessments included timed function tests, 6-minute walk test, and NorthStar Ambulatory Assessment (NSAA). Participants with DMD treated with glucocorticoids from the Duchenne Natural History Study (DNHS) and NorthStar United Kingdom (NSUK) Network were matched and compared with participants in the LTE study receiving higher doses of vamorolone. Results Among 46 boys with DMD who completed the dose-finding study, 41 boys (mean [SD] age, 5.33 [0.96] years) completed the LTE study. Among 21 participants treated with higher-dose (ie, ≥2.0 mg/kg/d) vamorolone consistently throughout the 6-month dose-finding and 24-month LTE studies with data available at 30 months, there was a decrease in mean (SD) TTSTAND velocity from baseline to 30 months (0.206 [0.070] rises/s vs 0.189 (0.124) rises/s), which was not a statistically significant change (−0.011 rises/s; CI, −0.068 to 0.046 rises/s). There were no statistically significant differences between participants receiving higher-dose vamorolone and matched participants in the historical control groups receiving glucocorticoid treatment (75 patients in DNHS and 110 patients in NSUK) over a 2-year period in NSAA total score change (0.22 units vs NSUK; 95% CI, −4.48 to 4.04]; P = .92), body mass index z score change (0.002 vs DNHS SD/mo; 95% CI, −0.006 to 0.010; P = .58), or timed function test change. Vamorolone at doses up to 6.0 mg/kg/d was well tolerated, with 5 of 46 participants discontinuing prematurely and for reasons not associated with study drug. Participants in the DNHS treated with glucocorticoids had significant growth delay in comparison with participants treated with vamorolone who had stable height percentiles (0.37 percentile/mo; 95% CI, 0.23 to 0.52 percentile/mo) over time. Conclusions and Relevance This study found that vamorolone treatment was not associated with a change in TTSTAND velocity from baseline to 30 months among boys with DMD aged 4 to 7 years at enrollment. Vamorolone was associated with maintenance of muscle strength and function up to 30 months, similar to standard of care glucocorticoid therapy, and improved height velocity compared with growth deceleration associated with glucocorticoid treatment, suggesting that vamorolone may be an attractive candidate for treatment of DMD. Trial Registration ClinicalTrials.gov Identifier: NCT03038399

Published
2022

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

Author

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

Published
2021
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31. Updates in the Use of Vamorolone and Steroids in the Treatment of Duchenne Muscular Dystrophy.

Author

McGowan, Bridget and Kuntz, Nancy L

Subjects
*DUCHENNE muscular dystrophy, *MINERALOCORTICOID receptors, *DYSTROPHIN genes, *GLUCOCORTICOID receptors, *NEUROMUSCULAR diseases
Abstract

Duchenne muscular dystrophy (DMD) is a devastating, life-limiting neuromuscular disorder that has a global prevelance of 21.4 cases per 100,000 live male births. DMD is caused by mutations in the dystrophin gene, which is integral to muscle membrane stability. Mutations in the dystrophin gene lead to inflammation and muscle fibrosis. Current standard-of-care treatments include the use of chronic (or classic) corticosteroids, which can cause significant side effects. Vamorolone is a first-in-class dissociative steroid that acts as a partial agonist to glucocorticoid receptors but as an antagonist to mineralocorticoid receptors, leading to a more favourable side effect profile. Clinical data has shown that vamorolone has similar anti-inflammatory benefits to classic corticosteroids but an improved side effect profile. [ABSTRACT FROM AUTHOR]

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

Author

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

Published
2021
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35. International Consensus Guidance for Management of Myasthenia Gravis

Author

Narayanaswami, Pushpa, Sanders, Donald B., Wolfe, Gil, Benatar, Michael, Cea, Gabriel, Evoli, Amelia, Gilhus, Nils Erik, Illa, Isabel, Kuntz, Nancy L., Massey, Janice, Melms, Arthur, Murai, Hiroyuki, Nicolle, Michael, Palace, Jacqueline, Richman, David, Verschuuren, Jan, and Universitat Autònoma de Barcelona

Abstract

To update the 2016 formal consensus-based guidance for the management of myasthenia gravis (MG) based on the latest evidence in the literature. In October 2013, the Myasthenia Gravis Foundation of America appointed a Task Force to develop treatment guidance for MG, and a panel of 15 international experts was convened. The RAND/UCLA appropriateness method was used to develop consensus recommendations pertaining to 7 treatment topics. In February 2019, the international panel was reconvened with the addition of one member to represent South America. All previous recommendations were reviewed for currency, and new consensus recommendations were developed on topics that required inclusion or updates based on the recent literature. Up to 3 rounds of anonymous e-mail votes were used to reach consensus, with modifications to recommendations between rounds based on the panel input. A simple majority vote (80% of panel members voting "yes") was used to approve minor changes in grammar and syntax to improve clarity. The previous recommendations for thymectomy were updated. New recommendations were developed for the use of rituximab, eculizumab, and methotrexate as well as for the following topics: early immunosuppression in ocular MG and MG associated with immune checkpoint inhibitor treatment. This updated formal consensus guidance of international MG experts, based on new evidence, provides recommendations to clinicians caring for patients with MG worldwide.

Published
2021

37. Findings from the Longitudinal CINRG Becker Natural History Study

Author

Clemens, Paula R., Gordish-Dressman, Heather, Niizawa, Gabriela, Gorni, Ksenija, Guglieri, Michela, Connolly, Anne M., Wicklund, Matthew, Bertorini, Tulio, Mah, Jean, Thangarajh, Mathula, Smith, Edward C., Kuntz, Nancy L., McDonald, Craig M., Henricson, Erik, Upadhyayula, S, Byrne, Barry, Manousakis, Georgios, Harper, Amy, Iannaccone, Susan, and Dang, Utkarsh J.

Abstract

Becker muscular dystrophy is an X-linked, genetic disorder causing progressive degeneration of skeletal and cardiac muscle, with a widely variable phenotype. A 3-year, longitudinal, prospective dataset contributed by patients with confirmed Becker muscular dystrophy was analyzed to characterize the natural history of this disorder. A better understanding of the natural history is crucial to rigorous therapeutic trials. A cohort of 83 patients with Becker muscular dystrophy (5–75 years at baseline) were followed for up to 3 years with annual assessments. Muscle and pulmonary function outcomes were analyzed herein. Age-stratified statistical analysis and modeling were conducted to analyze cross-sectional data, time-to-event data, and longitudinal data to characterize these clinical outcomes. Deletion mutations of dystrophin exons 45–47 or 45–48 were most common. Subgroup analysis showed greater pairwise association between motor outcomes at baseline than association between these outcomes and age. Stronger correlations between outcomes for adults than for those under 18 years were also observed. Using cross-sectional binning analysis, a ceiling effect was seen for North Star Ambulatory Assessment but not for other functional outcomes. Longitudinal analysis showed a decline in percentage predicted forced vital capacity over the life span. There was relative stability or improved median function for motor functional outcomes through childhood and adolescence and decreasing function with age thereafter. There is variable progression of outcomes resulting in significant heterogeneity of the clinical phenotype of Becker muscular dystrophy. Disease progression is largely manifest in adulthood. There are implications for clinical trial design revealed by this longitudinal analysis of a Becker natural history dataset.

Published
2023
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38. INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.

Author

Dowling, James J., Müller-Felber, Wolfgang, Smith, Barbara K., Bönnemann, Carsten G., Kuntz, Nancy L., Muntoni, Francesco, Servais, Laurent, Alfano, Lindsay N., Beggs, Alan H., Bilder, Deborah A., Blaschek, Astrid, Duong, Tina, Graham, Robert J., Jain, Minal, Lawlor, Michael W., Lee, Jun, Coats, Julie, Lilien, Charlotte, Lowes, Linda P., and MacBean, Victoria

Published
2022
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39. Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Author

Donkervoort, Sandra, Kutzner, Carl E., Hu, Ying, Lornage, Xaviere, Rendu, John, Stojkovic, Tanya, Baets, Jonathan, Neuhaus, Sarah B., Tanboon, Jantima, Maroofian, Reza, Bolduc, Veronique, Mroczek, Magdalena, Conijn, Stefan, Kuntz, Nancy L., Topf, Ana, Monges, Soledad, Lubieniecki, Fabiana, McCarty, Riley M., Chao, Katherine R., Governali, Serena, Bohm, Johann, Boonyapisit, Kanokwan, Malfatti, Edoardo, Sangruchi, Tumtip, Horkayne-Szakaly, Iren, Hedberg-Oldfors, Carola, Efthymiou, Stephanie, Noguchi, Satoru, Djeddi, Sarah, Iida, Aritoshi, di Rosa, Gabriella, Fiorillo, Chiara, Salpietro, Vincenzo, Darin, Niklas, Faure, Julien, Houlden, Henry, Oldfors, Anders, Nishino, Ichizo, de Ridder, Willem, Straub, Volker, Pokrzywa, Wojciech, Laporte, Jocelyn, Foley, A. Reghan, Romero, Norma B., Ottenheijm, Coen, Hoppe, Thorsten, Boennemann, Carsten G., Donkervoort, Sandra, Kutzner, Carl E., Hu, Ying, Lornage, Xaviere, Rendu, John, Stojkovic, Tanya, Baets, Jonathan, Neuhaus, Sarah B., Tanboon, Jantima, Maroofian, Reza, Bolduc, Veronique, Mroczek, Magdalena, Conijn, Stefan, Kuntz, Nancy L., Topf, Ana, Monges, Soledad, Lubieniecki, Fabiana, McCarty, Riley M., Chao, Katherine R., Governali, Serena, Bohm, Johann, Boonyapisit, Kanokwan, Malfatti, Edoardo, Sangruchi, Tumtip, Horkayne-Szakaly, Iren, Hedberg-Oldfors, Carola, Efthymiou, Stephanie, Noguchi, Satoru, Djeddi, Sarah, Iida, Aritoshi, di Rosa, Gabriella, Fiorillo, Chiara, Salpietro, Vincenzo, Darin, Niklas, Faure, Julien, Houlden, Henry, Oldfors, Anders, Nishino, Ichizo, de Ridder, Willem, Straub, Volker, Pokrzywa, Wojciech, Laporte, Jocelyn, Foley, A. Reghan, Romero, Norma B., Ottenheijm, Coen, Hoppe, Thorsten, and Boennemann, Carsten G.

Abstract

The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and muscle function from Caenorhabditis elegans to humans. The pathological impact of UNC-45B in muscle disease remained elusive. We report ten individuals with bi-allelic variants in UNC45B who exhibit childhood-onset progressive muscle weakness. We identified a common UNC45B variant that acts as a complex hypomorph splice variant. Purified UNC-45B mutants showed changes in folding and solubility. In situ localization studies further demonstrated reduced expression of mutant UNC-45B in muscle combined with abnormal localization away from the A-band towards the Z-disk of the sarcomere. The physiological relevance of these observations was investigated in C. elegans by transgenic expression of conserved UNC-45 missense variants, which showed impaired myosin binding for one and defective muscle function for three. Together, our results demonstrate that UNC-45B impairment manifests as a chaperonopathy with progressive muscle pathology, which discovers the previously unknown conserved role of UNC-45B in myofibrillar organization.

Published
2020

41. Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Author

Donkervoort, Sandra, primary, Kutzner, Carl E., additional, Hu, Ying, additional, Lornage, Xavière, additional, Rendu, John, additional, Stojkovic, Tanya, additional, Baets, Jonathan, additional, Neuhaus, Sarah B., additional, Tanboon, Jantima, additional, Maroofian, Reza, additional, Bolduc, Véronique, additional, Mroczek, Magdalena, additional, Conijn, Stefan, additional, Kuntz, Nancy L., additional, Töpf, Ana, additional, Monges, Soledad, additional, Lubieniecki, Fabiana, additional, McCarty, Riley M., additional, Chao, Katherine R., additional, Governali, Serena, additional, Böhm, Johann, additional, Boonyapisit, Kanokwan, additional, Malfatti, Edoardo, additional, Sangruchi, Tumtip, additional, Horkayne-Szakaly, Iren, additional, Hedberg-Oldfors, Carola, additional, Efthymiou, Stephanie, additional, Noguchi, Satoru, additional, Djeddi, Sarah, additional, Iida, Aritoshi, additional, di Rosa, Gabriella, additional, Fiorillo, Chiara, additional, Salpietro, Vincenzo, additional, Darin, Niklas, additional, Fauré, Julien, additional, Houlden, Henry, additional, Oldfors, Anders, additional, Nishino, Ichizo, additional, de Ridder, Willem, additional, Straub, Volker, additional, Pokrzywa, Wojciech, additional, Laporte, Jocelyn, additional, Foley, A. Reghan, additional, Romero, Norma B., additional, Ottenheijm, Coen, additional, Hoppe, Thorsten, additional, and Bönnemann, Carsten G., additional

Published
2020
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42. List of Contributors

Author

Abdala, Ana P.L., primary, Adams, David H., additional, Alvarenga, Marlies, additional, Arnold, Amy C., additional, Axelrod, Felicia B., additional, Barbic, Franca, additional, Barnes, Peter J., additional, Bauer, Deborah, additional, Bell, Christopher, additional, Benarroch, Eduardo E., additional, Berry-Kravis, Elizabeth M., additional, Bernardi, Luciano, additional, Biaggioni, Italo, additional, Birder, Lori, additional, Brooks, Virginia L., additional, Heller Brown, Joan, additional, Burnstock, Geoffrey, additional, Camilleri, Michael, additional, Campbell, J.Preston, additional, Carey, Robert M., additional, Caron, Marc G., additional, Carter, Calvin, additional, Cassaglia, Priscila A., additional, Castillo, Javier G., additional, Chapleau, Mark W., additional, Charkoudian, Nisha, additional, David Charles, P., additional, Chelimsky, Gisela, additional, Chelimsky, Thomas, additional, Cheng, Pei-Wen, additional, Clément, Gilles, additional, Cortelli, Pietro, additional, Cowley, Allen W., additional, Crews, Leslie, additional, Davis, Stephen N., additional, Davis, Thomas L., additional, de Groat, William C., additional, DeMarco, Vincent G., additional, Diedrich, André, additional, DiPette, Donald J., additional, Diz, Debra I., additional, Drake, Marcus J., additional, Drew, Rachel C., additional, Dütsch, Matthias, additional, Eisenhofer, Graeme, additional, Elefteriou, Florent, additional, Elijovich, Fernando, additional, English, Brett A., additional, Esler, Murray, additional, Fang, John Y., additional, Fealey, Robert D., additional, Fernandez, Stanley, additional, Fink, Gregory D., additional, Floras, John S., additional, Freeman, Roy, additional, Fu, Qi, additional, Fu, Liang-Wu, additional, Furlan, Raffaello, additional, Gamboa, Alfredo, additional, Garland, Emily M., additional, Gibbons, Christopher H., additional, Gilbey, Michael P., additional, Gilden, Janice L., additional, Gilman, Sid, additional, Goldstein, David S., additional, Golombek, Diego A., additional, Graham, Robert M., additional, Grassi, Guido, additional, Grier, Mark D., additional, Groothuis, Jan T., additional, Grubb, Blair P., additional, Hahn, Maureen K., additional, Halcox, Julian P.J., additional, Hamill, Robert W., additional, Hande, Kenneth R., additional, Harati, Yadollah, additional, Harrison, David G., additional, Hart, Emma C., additional, Hastings, Jacqui, additional, Henderson, Luke A., additional, Hilz, Max J., additional, Hoeldtke, Robert, additional, Ho, Shung Tai, additional, Hunter, Peter, additional, Hyland, Keith, additional, Hyland, Lauren, additional, Izadyar, Shahram, additional, Izzo, Joseph L., additional, Jackson, Edwin K., additional, Jacob, Giris, additional, Jänig, Wilfrid, additional, Johnson, Megan S., additional, Jones, Carrie K., additional, Jones, James F.X., additional, Joos, Karen M., additional, Jordan, Jens, additional, Joyner, Michael J., additional, Kaler, Stephen G., additional, Kasparov, Sergey, additional, Kaufmann, Horacio, additional, Kaye, David, additional, Khurana, Ramesh K., additional, Kim, Chun-Hyung, additional, Kim, Kwang-Soo, additional, Kobayashi, Kazuto, additional, Kuntz, Nancy L., additional, Konecny, Tomas, additional, Kontak, Andrew, additional, Laffer, Cheryl L., additional, Lagrange, Andre H., additional, Laiken, Nora, additional, Lambert, Gavin, additional, Lenders, Jacques W.M., additional, Levine, Benjamin D., additional, Lipsitz, Lewis A., additional, Lombard, Julian H., additional, Longhurst, John C., additional, Low, David A., additional, Low, Phillip A., additional, Lu, Chih Cherng, additional, Luther, James M., additional, Macefield, Vaughan G., additional, McCully, Belinda H., additional, McLeod, James G., additional, Manger, William M., additional, Mano, Tadaaki, additional, Marvar, Paul J., additional, Masliah, Eliezer, additional, Mathias, Christopher J., additional, Melson, Mark R., additional, Milam, Douglas F., additional, Mohl, Marion C., additional, Molkov, Yaroslav I., additional, Morris, Margaret, additional, Morrison, Shaun F., additional, Nagatsu, Toshiharu, additional, Nichols, Charles D., additional, Norcliffe-Kaufmann, Lucy, additional, Novak, Vera, additional, Okamoto, Luis E., additional, Osborn, John W., additional, Parsons, Brian A., additional, Paton, Julian F.R., additional, Patwari, Pallavi P., additional, Phan, Cecile L., additional, Phibbs, Fenna T., additional, Prabhakar, Nanduri R., additional, Peltier, Amanda C., additional, Peterson, Sean M., additional, Pickering, Anthony E, additional, Pratt, J.Howard, additional, Rahmouni, Kamal, additional, Raj, Satish R., additional, Rand, Casey M., additional, Reichmann, Heinz, additional, Richards, Jeff, additional, Roberts, L.Jackson, additional, Robertson, David W., additional, Robertson, Rose Marie, additional, Robinson, Michael, additional, Rybak, Ilya A., additional, Sanders-Bush, Elaine, additional, Sandroni, Paola, additional, Sato, Kyoko, additional, Sato, Takayuki, additional, Schatz, Irwin J., additional, Schiffrin, Ernesto L., additional, Schondorf, Ronald, additional, Schwarz, Rosemary, additional, Seravalle, Gino, additional, Shapiro, Robert E., additional, Shibao, Cyndya, additional, Somers, Virend, additional, Stampfer, Michaela, additional, Stein, C.Michael, additional, Stemberger, Sylvia, additional, Stewart, Julian, additional, Sinoway, Lawrence I., additional, Sowers, James R., additional, Srikakarlapudi, Sirisha, additional, Sunagawa, Kenji, additional, Supowit, Scott C., additional, Taylor, Palmer, additional, Thompson, Jane, additional, Thijs, Roland D., additional, Touyz, Rhian M, additional, Tranel, Daniel, additional, Trikudanathan, Subbulaxmi, additional, Tseng, Ching-Jiunn, additional, Tung, Che-Se, additional, Ubhi, Kiren, additional, Urs, Nikhil, additional, Verbalis, Joseph G., additional, Vernino, Steven, additional, Victor, Ronald G., additional, Vizzard, Margaret A., additional, Vongpatanasin, Wanpen, additional, Wallin, B.Gunnar, additional, Wang, Tobias, additional, Wang, Qin, additional, Webster, Andrew A., additional, Weese-Mayer, Debra E., additional, Wenning, Gregor K., additional, Whaley-Connell, Adam, additional, Wieling, Wouter, additional, Williams, Gordon H., additional, Wood, Scott, additional, Ziegler, Michael G., additional, and Zoccal, Daniel B., additional

Published
2012
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44. Medical management of muscle weakness in Duchenne muscular dystrophy

Author

Rivera, Sarah R., primary, Jhamb, Sumit K., additional, Abdel-Hamid, Hoda Z., additional, Acsadi, Gyula, additional, Brandsema, John, additional, Ciafaloni, Emma, additional, Darras, Basil T., additional, Iannaccone, Susan T., additional, Konersman, Chamindra G., additional, Kuntz, Nancy L., additional, McDonald, Craig M., additional, Parsons, Julie A., additional, Tesi Rocha, Carolina, additional, Zaidman, Craig M., additional, Butterfield, Russell J., additional, Connolly, Anne M., additional, and Mathews, Katherine D., additional

Published
2020
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45. Combination molecular therapies for type 1 spinal muscular atrophy

Author

Harada, Yohei, primary, Rao, Vamshi K., additional, Arya, Kapil, additional, Kuntz, Nancy L., additional, DiDonato, Christine J., additional, Napchan‐Pomerantz, Galia, additional, Agarwal, Amit, additional, Stefans, Vikki, additional, Katsuno, Masahisa, additional, and Veerapandiyan, Aravindhan, additional

Published
2020
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48. Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1 (SMA1): Phase 3 US Study (STR1VE) Update (1828)

Author

Day, John W., primary, Chiriboga, Claudia A., additional, Crawford, Thomas O., additional, Darras, Basil T., additional, Finkel, Richard S., additional, Connolly, Anne M., additional, Iannaccone, Susan T., additional, Kuntz, Nancy L., additional, Peña, Loren D.M., additional, Shieh, Perry B., additional, Smith, Edward C., additional, Schultz, Meredith, additional, Feltner, Douglas E., additional, Tauscher-Wisniewski, Sitra, additional, Ogrinc, Francis G., additional, Shah, Ankita, additional, Ouyang, Haojun, additional, Macek, Thomas, additional, Kernbauer, Elaine, additional, Sproule, Douglas M., additional, and Mendell, Jerry R., additional

Published
2020
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49. Longer-term Treatment With Nusinersen: Results in Later-onset Spinal Muscular Atrophy From the SHINE Study (1661)

Author

Chiriboga, Claudia A., primary, Darras, Basil T., additional, Farrar, Michelle A., additional, Mercuri, Eugenio, additional, Kirschner, Janbernd, additional, Kuntz, Nancy L., additional, Acsadi, Gyula, additional, Tulinius, Mar, additional, Montes, Jacqueline, additional, Gambino, Giulia, additional, Foster, Richard, additional, Bhan, Ishir, additional, Wong, Janice, additional, Kandinov, Boris, additional, and Farwell, Wildon, additional

Published
2020
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