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Abstract Details

A Search for Systemic Manifestations of Spinal Muscular Atrophy (SMA): A Matched-Cohort Study Using Insurance Claims Data in the USA
Child Neurology and Developmental Neurology
P15 - Poster Session 15 (12:00 PM-1:00 PM)
5-007

To assess systemic manifestations that may be associated with spinal muscular atrophy (SMA) using a US insurance claims database.
SMA is an autosomal recessive disorder caused by deficiency of survival of motor neuron (SMN) protein due to deletions and/or mutations in the SMN1 gene. Reduced levels of SMN protein throughout the body are thought to play a role in disease pathophysiology. However, evidence supporting that SMN deficiency directly translates into detectable non-neuromuscular phenotypes in humans is limited.
This is an observational, retrospective and matched-cohort study using US insurance claims from drug-naïve patients with at least two records of an SMA code from the International Classification of Diseases 9 (ICD-9) between 1 January 2000–31 December 2013. Subjects were stratified in four groups according to age at the index date and the nature of ICD-9 codes. A matched group of non-SMA subjects was used for comparison.
A total of 1,457 patients with SMA were matched to 13,379 controls. Mean duration of enrollment was 4.9 (standard deviation=3.4) years. In the pre-index period, neurologic, respiratory and general symptoms (64.4%, 60.3% and 61.8%, respectively) were ranked as the top three system organs affected in SMA cases regardless of their group, while in the controls, respiratory and general symptoms were most frequently reported (47.7% and 36.4% respectively) and neurologic signs were rarer (15.7%). In the post-index period, neurologic symptoms were reported in all SMA cases and 23.4% in controls. Respiratory and general symptoms, still among the top three affected system organs, were reported for 75.6% and 80.8% of SMA cases and 61.7% and 49.6% for controls, respectively.
Patients with SMA showed different claims compared with controls in both pre- and post-index periods. This study provides further insights on the potential of the involvement of other organ systems in SMA.
Authors/Disclosures

PRESENTER 		No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
Etienne REGULIER No disclosure on file
Renata Scalco, MD (MRC Centre for Neuromuscular Diseases) No disclosure on file
Basil T. Darras, MD (Children'S Hosp Boston Harvard Med School) The institution of Dr. Darras has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus. Dr. Darras has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Amicus. The institution of Dr. Darras has received research support from National Institutes of Health/National Institute of Neurological Disorders and Stroke,. The institution of Dr. Darras has received research support from Slaney Family Fund for SMA. The institution of Dr. Darras has received research support from Spinal Muscular Atrophy Foundation. The institution of Dr. Darras has received research support from CureSMA. The institution of Dr. Darras has received research support from Working on Walking Fund . The institution of Dr. Darras has received research support from CHERISH, CS2/CS12 . The institution of Dr. Darras has received research support from Biogen for CS11. The institution of Dr. Darras has received research support from AveXis. The institution of Dr. Darras has received research support from Sarepta Pharmaceuticals. The institution of Dr. Darras has received research support from PTC Therapeutics. The institution of Dr. Darras has received research support from Roche. The institution of Dr. Darras has received research support from Santhera. The institution of Dr. Darras has received research support from Scholar Rock. The institution of Dr. Darras has received research support from Fibrogen. The institution of Dr. Darras has received research support from Summit. Dr. Darras has received publishing royalties from a publication relating to health care. Dr. Darras has received publishing royalties from a publication relating to health care.