NCT04174157

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

A Prospective, Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 700 (estimated)
• Sponsor: Novartis Pharmaceuticals · Industry
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Detailed description

This is a prospective, multi center, multinational, non-interventional observational study. All patients will be managed according to the clinical site's normal clinical practice, i.e., the diagnostic and clinical treatment/practice process that a clinician chooses according to their clinical judgement for an SMA patient. Clinical care will not be driven by the protocol. No additional visits or investigations will be performed beyond normal clinical practice. Patients will be followed for 15 years from enrolment or until death, whichever is sooner.

Conditions

• Spinal Muscular Atrophy (SMA)

Interventions

Type	Name	Description
OTHER	Prospective observational registry	This prospective observational registry will assess long-term outcomes of patients with a diagnosis of SMA.
DRUG	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

Timeline

• Start date: 2018-09-25
• Primary completion: 2038-06-30
• Completion: 2038-06-30
• First posted: 2019-11-22
• Last updated: 2025-01-31

Locations

99 sites across 11 countries: United States, Greece, Ireland, Israel, Japan, Poland, Portugal, Romania, Russia, South Korea, Taiwan

Regulatory

• FDA-regulated drug study