Long-term registry following people with spinal muscular atrophy and their treatment outcomes
Follows people with spinal muscular atrophy over time, including those given Zolgensma.
Plain-language title generated from the registry record
Registry title: Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
Key facts
- Where
- Lublin, PolandSee the site
Where in Poland
- Uniwersytecki Szpital DzieciecLublin, PolandTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Novartis Pharmaceuticals
- Trial code
- NCT04174157
- Record updated
- 31 January 2025
- Original description
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.Read full original descriptionShow less
A Prospective, Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
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.
Inclusion: 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: Currently enrolled in an interventional clinical trial involving an investigational medicinal product to treat SMA; Note: Patients who are participating in a Compassionate Use Program (CUP) for OAV-101 (Zolgensma) such as a Managed Access Program (MAP), an Expanded Access Program (EAP), Single Patient Investigational New Drug (IND) (SPI) or Named Patient Program (NPP) are eligible to enroll in the registry regardless of the date of a genetic or clinical diagnosis of SMA.