Abstract Details

Title Treatments and Outcomes for Patients with Spinal Muscular Atrophy Type 2: Findings from RESTORE Registry

Topic Child Neurology and Developmental Neurology

Presentation(s) P7 - Poster Session 7 (8:00 AM-9:00 AM)

Poster/Presentation
Number 4-010

Objective We sought to describe real-world treatment patterns and outcomes for patients with SMA type 2 (SMA2) receiving onasemnogene abeparvovec (OA) monotherapy or who switched to OA from nusinersen.

Background Real-world data describing treatment patterns and outcomes for patients with SMA2 are limited. Patients with untreated SMA2 typically have clinically identifiable disease symptoms between 6–18 months of age, and are able to sit independently, but are unable to walk without support.

Design/Methods RESTORE is an ongoing SMA patient registry that captures patient data from a variety of sources. We analyzed changes in motor milestones and motor function scores and assessed treatment-emergent adverse events (TEAEs) for patients who received OA monotherapy or switched to OA from nusinersen.

Results As of Nov. 23, 2021, 34 patients with SMA2 were identified. Six (17.7%), 27 (79.4%), and 1 (2.9%) had two, three, or four SMN2 gene copies, respectively. Median age at SMA diagnosis was 13.0 months. Age at first DMT administration was 14.0 months. Median interval between diagnosis and first DMT was 1 month. Two-thirds (n=23/34) of patients received OA monotherapy; 11 patients switched to OA from nusinersen. Of 23 patients with ≥2 motor milestone assessments (≥1 post-DMT administration), all but three (OA only [n=3]) maintained or achieved new milestones: 14 (60.9%) received OA monotherapy and six (26.1%) switched to OA from nusinersen. Ten of 11 (90.9%) patients evaluable for CHOP INTEND improved/maintained score, with eight (72.7%) achieving a ≥4-point increase. Any-stage TEAEs were recorded for 11/23 (47.8%) patients who received OA monotherapy and 7/11 (63.6%) who switched to OA from nusinersen. AEs in RESTORE are consistent with overall OA experience. No new safety signals were identified.

Conclusions Real-world data from RESTORE indicate that OA is effective and has an acceptable safety profile for patients with SMA2, regardless of prior treatment with nusinersen.

Authors/Disclosures
Laurent Servais (John Radcliffe Hospital) PRESENTER	Laurent Servais has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biogen. Laurent Servais has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Roche. Laurent Servais has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Novartis. Laurent Servais has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Astellas. Laurent Servais has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Laurent Servais has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. The institution of Laurent Servais has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Evox. Laurent Servais has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Laurent Servais has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sysnav. Laurent Servais has received personal compensation in the range of $500-$4,999 for serving as a Consultant for BioHaven. Laurent Servais has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dyne. Laurent Servais has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Zentech. Laurent Servais has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MitoRx. Laurent Servais has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Lupin. Laurent Servais has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Fibrogen. Laurent Servais has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alltrana. Laurent Servais has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Illumina. Laurent Servais has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. The institution of Laurent Servais has received research support from Roche. The institution of Laurent Servais has received research support from Novartis. The institution of Laurent Servais has received research support from Biogen. The institution of Laurent Servais has received research support from Zentech. The institution of Laurent Servais has received research support from BioHaven. The institution of Laurent Servais has received research support from PerkinHalmers. The institution of Laurent Servais has received research support from Scholar Rock.
Kamal Benguerba	Kamal Benguerba has received personal compensation for serving as an employee of Novartis Gene Therapies. Kamal Benguerba has stock in Novartis Gene Therapies.
Darryl C. De Vivo, MD, FAAN (Columbia University)	Dr. De Vivo has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen and Novartis. Dr. De Vivo has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Aspa Therapeutics.
	No disclosure on file
Francesco Muntoni, MD (UCL Institute of Child Health)	Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Sarepta. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Biogen. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. The institution of Dr. Muntoni has received research support from European Commission. The institution of Dr. Muntoni has received research support from Medical Research Council. The institution of Dr. Muntoni has received research support from Biogen. The institution of Dr. Muntoni has received research support from Muscular Dystrophy UK. The institution of Dr. Muntoni has received research support from MDA USA. The institution of Dr. Muntoni has received research support from Sarepta. The institution of Dr. Muntoni has received research support from Association Francoise Myopathies. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving as a Clinical expert with UK NICE Committee.
Crystal M. Proud, MD (CSG Child & Adolescent Neurology)	Dr. Proud has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Avexis. Dr. Proud has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biogen. Dr. Proud has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Sarepta. Dr. Proud has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Avexis. Dr. Proud has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Biogen. The institution of Dr. Proud has received research support from Biogen. The institution of Dr. Proud has received research support from Sarepta. The institution of Dr. Proud has received research support from Avexis. The institution of Dr. Proud has received research support from PTC. The institution of Dr. Proud has received research support from CSL Behring. The institution of Dr. Proud has received research support from Scholar Rock. The institution of Dr. Proud has received research support from Catabasis.
	No disclosure on file
Susana Quijano-Roy (Aphp Paris Saclay, Hôpital Raymond Poincaré)	No disclosure on file
	No disclosure on file
Kayoko Saito	No disclosure on file
	No disclosure on file
Nicole LaMarca	Ms. LaMarca has received personal compensation for serving as an employee of Novartis Gene Therapies.
	No disclosure on file
Fred Anderson, PhD	Dr. Anderson has nothing to disclose.
	No disclosure on file
Richard S. Finkel, MD, FAAN (St. Jude Children's Research Hospital)	Dr. Finkel has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AveXis. Dr. Finkel has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catabasis. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Capricor. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for ReveraGen. Dr. Finkel has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Scholar Rock. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier. The institution of Dr. Finkel has received research support from AveXis. The institution of Dr. Finkel has received research support from Biogen. The institution of Dr. Finkel has received research support from Capricor. The institution of Dr. Finkel has received research support from Catabasis. The institution of Dr. Finkel has received research support from ReveraGen. The institution of Dr. Finkel has received research support from Roche. The institution of Dr. Finkel has received research support from Scholar Rock. Dr. Finkel has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Dr. Finkel has received intellectual property interests from a discovery or technology relating to health care. Dr. Finkel has received personal compensation in the range of $0-$499 for serving as a Speaker in workshop with National Academy of Sciences. Dr. Finkel has a non-compensated relationship as a advisor with n-Lorem Foundation that is relevant to AAN interests or activities. Dr. Finkel has a non-compensated relationship as a Board Member with EveryLife Foundation that is relevant to AAN interests or activities.

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