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Abstract Details

Intrathecal nusinersen in older children and adults with spinal muscular atrophy
Neuromuscular and Clinical Neurophysiology (EMG)
S5 - Therapeutics in ALS and SMA (1:00 PM-1:11 PM)
001

SMA is a fatal neuromuscular disorder characterized by progressive muscle weakness, atrophy, respiratory compromise, and paralysis. Nusinersen, the first Food and Drug Administration approved treatment for SMA, is administered intrathecally. Nusinersen was effective in phase III randomized controlled trials in infants with SMA1 and children with later onset SMA in improving motor function. Recent phase 3 clinical trial of nusinersen in later onset SMA included patients up to 12 years of age at the time of screening. Data on efficacy and safety of intrathecal nusinersen in older children and adults with SMA is lacking.

To report our experience of treating spinal muscular atrophy (SMA) patients with intrathecal nusinersen who are of 12 years of age and older at the time of first injection.

Retrospective chart review

12 patients (6 males; 1 type 1, 4 type 2 and 7 type 3 SMA) between 12 and 52 years of age were treated with nusinersen. Mean Revised Upper Limb Module (RULM) score at baseline, after loading and first maintenance doses of nusinersen were 14.4±9.3, 17.3±10.5, and 19.8±9.9 respectively. Two type 3 patients were ambulatory at baseline and the ambulation was after loading and first maintenance doses. Improvements in endurance, hand movements, hand writing, and louder/clearer speech were reported. All patients had scoliosis and 10 had spinal fusion and instrumentation. 37 lumbar and 18 cervical punctures were performed with successful administration of intrathecal nusinersen. Post lumbar puncture site pain and headache were reported in 5 occurrences.

Improvements and stability in motor functions and ambulation was noted with nusinersen in our cohort of older children and adults with SMA. Our data also demonstrate feasibility and safety of intrathecal administration of nusinersen in such patients.

Authors/Disclosures
Aravindhan Veerapandiyan, MD (Arkansas Childrens Hospital/UAMS)
PRESENTER
Dr. Veerapandiyan has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Biogen, Novartis,Edgewise Therapeutics, Pfizer, PTC Therapeutics, Sarepta Therapeutics, Inc., UCB Pharma, Catalyst, Entrada, Lupin, Percheron, ITF. Dr. Veerapandiyan has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for MedLink Neurology. Dr. Veerapandiyan has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Muscle and Nerve. The institution of Dr. Veerapandiyan has received research support from AMO Pharma, Capricor Therapeutics, Edgewise Therapeutics, FibroGen, Muscular Dystrophy Association, Novartis, Parent Project Muscular Dystrophy, Pfizer, RegenxBio, SolodBio and Sarepta Therapeutics. Dr. Veerapandiyan has received personal compensation in the range of $5,000-$9,999 for serving as a MD with PPMD, MDA.
Katy Eichinger, PhD, PT, DPT, NCS (University of Rochester) Dr. Eichinger has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Fulcrum. Dr. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Avidity. Dr. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for DyneTherapeutic. Dr. Eichinger has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Roche. Dr. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for TRiNDS. The institution of Dr. Eichinger has received research support from Charcot Marie Tooth Association. The institution of Dr. Eichinger has received research support from Muscular Dystrophy Association. Dr. Eichinger has received intellectual property interests from a discovery or technology relating to health care.
Debra Guntrum, MS, FNP (University of Rochester Medical Center) Ms. Guntrum has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avexis. Ms. Guntrum has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Ms. Guntrum has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC.
No disclosure on file
Jennifer M. Kwon, MD, FAAN (University of Wisconsin) Dr. Kwon has nothing to disclose.
Emma Ciafaloni, MD, FAAN (University of Rochester Medical Center) Dr. Ciafaloni has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Argenx, Alexion, Sarepta, UCB, Hoffman-LaRoche, Biogen. Dr. Ciafaloni has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis, AnnJi Pharmaceutical, ML-BIO, Avidity. The institution of Dr. Ciafaloni has received research support from CDC, CureSMA, FDA, Orphazyme, Sarepta, PCORI, Neurogene. Dr. Ciafaloni has received publishing royalties from a publication relating to health care.