All compounds are either investigational or being studied for (a) new use(s). Efficacy and safety have not been established. There is no guarantee that they will become commercially available for the use(s) under investigation.
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.
Until recently, the mainstay of treatment for these patients was supportive medical care. However, advances in medical treatment focusing on gene replacement, gene enhancement, motor neuron protection and muscle enhancement is likely to change the management and prognosis of these patients in the future.
The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options.
Spinal Muscular Atrophy (SMA)
Sep 25, 2018
Jun 30, 2038
(Child, Adult, Older Adult)
Prospective observational registry
This prospective observational registry will assess long-term outcomes of patients with a diagnosis of SMA.
Zolgensma will be given to patients as per normal clinical practice and clinical care will not be mandated by the protocol. As such, the decision to prescribe Zolgensma is separate from the decision to include the patient in this study
Patients with SMA, genetically confirmed on or after 24 May 2018.
Appropriate consent/assent has been obtained for participation in the registry
- Currently enrolled in an interventional clinical trial involving an investigational medicinal product to treat SMA.
Note: Patients that are participating in a Compassionate Use Program (CUP) for AVXS-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 genetic confirmation of SMA.