Summary

Location
at San Diego, California and other locations
Dates
study started
estimated completion

Description

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.

Official Title

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

Details

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.

Keywords

Spinal Muscular Atrophy (SMA) Muscular Atrophy Muscular Atrophy, Spinal Atrophy Zolgensma

Eligibility

You can join if…

  • Patients with SMA, genetically confirmed on or after 24 May 2018.
  • Appropriate consent/assent has been obtained for participation in the registry

You CAN'T join if...

  • 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.

Locations

  • Rady Children's Hospital San Diego not yet accepting patients
    San Diego California 92123 United States
  • Loma Linda University Health accepting new patients
    Loma Linda California 92350 United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
AveXis, Inc.
ID
NCT04174157
Study Type
Observational [Patient Registry]
Last Updated