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Abstract Details

Natural History of Type 2 and 3 Spinal Muscular Atrophy (SMA): Longitudinal 2-year NatHis-SMA Study
Child Neurology and Developmental Neurology
P8 - Poster Session 8 (8:00 AM-9:00 AM)
5-008
NatHis-SMA (NCT02391831) is a prospective study of the natural history of patients with Type 2 and 3 spinal muscular atrophy (SMA). The objectives of this study were to: characterize the disease course of untreated patients; identify prognostic variables of disease and biomarkers of SMA; and identify the best outcome measure for further therapeutic approaches.
SMA is a severe, progressive neuromuscular disease caused by reduced levels of survival of motor neuron (SMN) protein due to deletions and/or mutations of the SMN1 gene. Defining the natural history of SMA is essential for identifying reliable outcome measures for different patient populations. Current outcome measures may require 3-year follow up to identify significant change.
NatHis-SMA was conducted in nine centers across Europe between May 2015 and May 2018. Individuals with genetically confirmed SMA (Type 2 or 3), aged 2–30 years, were eligible. Participants were assessed on several measures, including motor function (e.g. MFM20/MFM32) and movement monitoring (magneto inertial technology, ActiMyo®), upper limb strength and function (Myopinch®/Myogrip® and MoviPlate), intramuscular fat changes (MRI), pulmonary function and quality of life. Measures were performed every 6 and/or 12 months for 24 months.
Baseline assessments were completed by 81 patients and 40 patients were assessed at 24 months. MFM32 significantly decreased over 2 years in all SMA types. Upper limb strength also decreased over a 1 and 2-year period. Upper limb activity and power as measured by ActiMyo® significantly decreased over a 6 month and a 1-year period.
These assessments represent highly relevant, clinically meaningful outcome measures for individuals with SMA and are highly sensitive to change; they allow trials to be conducted with significantly fewer patients or during shorter periods of time. Application of these measures to future clinical trials could provide a holistic evaluation of disease progression and treatment efficacy.
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.
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Yann Pereon, MD, PhD (Chu De Nantes) No disclosure on file
Claude Cances No disclosure on file
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Vincent Laugel No disclosure on file
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Linda P. Lowes, PT PhD The institution of Ms. Lowes has received research support from Sarepta Therapeutics.
Ksenija Gorni Dr. Gorni has received personal compensation for serving as an employee of Hoffman La Roche.
No disclosure on file
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Timothy Seabrook No disclosure on file
Christian Czech, PhD No disclosure on file
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