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

Conditions

• Spinal Muscular Atrophy (SMA)

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Interventions

• Prospective observational registry — OTHER
  This prospective observational registry will assess long-term outcomes of patients with a diagnosis of SMA.
• Zolgensma — DRUG
  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 Details

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.

Key Dates

Start date

Sep 25, 2018

Status verified

Jan 2025

Primary completion

Jun 30, 2038

Completion

Jun 30, 2038

Study Design

Enrollment

700 participants (estimated)

Arms

• Arm: Prospective observational registry
  This is a prospective, multi center, multinational, non-interventional observational registry.

Primary Outcome Measure

Change in probability of survival of all patients with SMA using Kaplan Meier method to estimate [ Time Frame: Based on information collected at Baseline and every 6 months through 2 years of follow-up, then annually through 15 years of follow up. ]

Central Contacts

• Novartis Gene Therapies
  1-888-669-6682
  [email protected]
• Novartis Gene Therapies
  +4161324111

Locations (50)

Find similar trials in Phoenix, AZ

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