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

Brief summary (registry, in English)

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 diseases. The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options and also to characterize and assess long-term safety and effectiveness of OAV-101.

What you commit to

• Study type: Observational
• Planned participants: 700
• From Sept 2018 to the primary completion date, Jun 2038
• 99 sites in 11 countries
• Visits and tests: ask the trial team, the registry does not list them

Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.

Who cannot take part

Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.

Who the study is looking for

Sex: All · Does not accept healthy volunteers

Full criteria on ClinicalTrials.gov

Sites (99)

Sites in registry order. Pick your city on the disease page to sort them by distance.

Related publications

• Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan.Ann Clin Transl Neurol · 2026 · PMID 42265796
• Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registry.J Neuromuscul Dis · 2026 · PMID 41217888