RT Journal Article
SR Electronic
T1 Nusinersen Treatment in Adults With Spinal Muscular Atrophy
JF Neurology: Clinical Practice
FD Lippincott Williams & Wilkins
SP e317
OP e327
DO 10.1212/CPJ.0000000000001033
VO 11
IS 3
A1 Tina Duong
A1 Connie Wolford
A1 Michael P. McDermott
A1 Chelsea E. Macpherson
A1 Amy Pasternak
A1 Allan M. Glanzman
A1 William B. Martens
A1 Elizabeth Kichula
A1 Basil T. Darras
A1 Darryl C. De Vivo
A1 Zarazuela Zolkipli-Cunningham
A1 Richard S. Finkel
A1 Michael Zeineh
A1 Max Wintermark
A1 Jacinda Sampson
A1 Katharine A. Hagerman
A1 Sally Dunaway Young
A1 John W. Day
YR 2021
UL http://cp.neurology.org/content/11/3/e317.abstract
AB Objective To determine changes in motor and respiratory function after treatment with nusinersen in adults with spinal muscular atrophy (SMA) during the first two years of commercial availability in the USA.Methods Data were collected prospectively on adult (age >17 years at treatment initiation) SMA participants in the Pediatric Neuromuscular Clinical Research (PNCR) Network. Baseline assessments of SMA outcomes including the Expanded Hammersmith Functional Rating Scale (HFMSE), Revised Upper Limb Module (RULM), and 6-Minute Walk Test (6MWT) occurred <5 months before treatment, and post-treatment assessments were made up to 24 months after nusinersen initation. Patient-reported experiences, safety laboratory tests and adverse events were monitored. The mean annual rate of change over time was determined for outcome measures using linear mixed effects models.Results Forty-two adult SMA participants (mean age: 34 years, range 17-66) receiving nusinersen for a mean of 12.5 months (range 3-24 months) were assessed. Several motor and respiratory measures showed improvement distinct from the progressive decline typically seen in untreated adults. Participants also reported qualitative improvements including muscle strength, stamina, breathing and bulbar related outcomes. All participants tolerated nusinersen with normal surveillance labs and no significant adverse events.Conclusions Trends of improvement emerged in functional motor, patient-reported, and respiratory measures, suggesting nusinersen may be efficacious in adults with SMA. Larger well-controlled studies and additional outcome measures are needed to firmly establish the efficacy of nusinersen in adults with SMA.Classification of Evidence This study provides Class IV evidence regarding nusinersen tolerability and efficacy based on reported side effects and pulmonary and physical therapy assessments in an adult SMA cohort.