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

Spinal Muscular Atrophy (SMA) Clinical Trial

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

Status Recruiting

Clinical Trial 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.

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.

Clinical Trial 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. ;

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy (SMA)

• NCT number: NCT04174157
• Study type: Observational [Patient Registry]
• Source: AveXis, Inc.
• Contact: Novartis Gene Therapies (former AveXis) Medinfo
• Phone: 1-833-828-3947
• Email: medinfo.gtx@novartis.com
• Status: Recruiting
• Start date: September 25, 2018
• Completion date: June 30, 2038