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

Condition(s) studied

Investigational drug(s) / intervention(s)

Prospective observational registry: This prospective observational registry will assess long-term outcomes of patients with a diagnosis of SMA.

Zolgensma: 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

Study summary

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.

Eligibility

Primary outcome measure(s)

• Change in probability of survival of all patients with SMA using Kaplan Meier method to estimate — Based on information collected at Baseline and every 6 months through 2 years of follow-up, then annually through 15 years of follow up.
• Change from baseline Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) in infants with pre-symptomatic or type I SMA — Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
  CHOP INTEND score ranges from 0 to 64 with higher scores indicating higher motor function
• Change from baseline Hammersmith Infant Neurological Examination (HINE) in infants with pre-symptomatic, type I or type II SMA — Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
  HINE score range from 0 to 26 with higher scores indicating more development.
• Change from baseline in Hammersmith Functional Motor Scale Expanded (HFMSE) for patients with type II and III SMA — Baseline and every 6months through 2 years of follow up, then annually through 15 years of follow up
  HFMSE score range from 0 to 66 with the higher scores indicating more development.
• Incidence of treatment emergent adverse events — Through 15 years of follow up
• Incidence of treatment emergent serious adverse events — Through 15 years of follow up
• Incidence of treatment emergent adverse events related to therapy — Through 15 years of follow up
• Incidence of treatment emergent thrombocytopenia, hepatotoxicity and cardiac adverse events — Through 15 years of follow up

Trial sites (99)

+ 59 more sites — see the full list on the official registry below.