Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)

Recruiting Observational Study
Spinal Muscular Atrophy (SMA)
No Placebo Group Every participant receives an active treatment — no one gets a placebo. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Sex
Any
Study type
Observational
Participants needed
700 (estimated)
Sponsor
Novartis Pharmaceuticals · Industry
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About This Trial
Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of 1:10,000 live births. SMA is the leading cause of infant mortality due to genetic disea…
Trial Locations
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Eligibility Criteria
Inclusion Criteria: * Patients treated with OAV-101 with a genetically confirmed diagnosis of SMA regardless of the date of diagnosis. * Appropriate consent/assent has been obtained for participation in the registry Exclusion Criteria: \- Currently enrolled in an interventional clinical trial inv…
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