Long-Term Observational Registry for Patients Diagnosed with Spinal Muscular Atrophy SMA to Track Outcomes and Safety of Treatments Including OAV-101

What this Trial Is About

Spinal muscular atrophy SMA is a genetic disorder caused by changes in the SMN1 gene, leading to low SMN protein levels and problems with motor neurons. It is an inherited disease that mainly affects children and is a leading cause of infant death due to genetic conditions. This research aims to observe patients with SMA over time to understand long-term outcomes with new treatments and to evaluate the long-term safety and effects of the investigational therapy OAV-101. This is a prospective, multinational, non-interventional observational study where patients receive their usual clinical care without changes directed by the study. Treatments such as Zolgensma may be given according to normal clinical practice, but this is not controlled by the study protocol. Patients will be followed for up to 15 years or until death, with no extra visits or tests beyond what is normally done for SMA care. Participants will be evaluated through regular clinical assessments based on their normal care schedule, with data collected at baseline and at intervals of every 6 months for the first 2 years, then yearly for up to 15 years. Researchers will measure survival rates, motor function scores like CHOP-INTEND and HFMSE, hospitalizations, quality of life, use of ventilator, nutritional, and mobility supports, as well as any treatment-related side effects during this long-term follow-up.

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