Los Angeles, California 90027

  • Spinal Muscular Atrophy (SMA)


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.

Study summary:

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.


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



Primary Contact:

Study Director
Omar Dabbous
Novartis Gene Therapies

Novartis Gene Therapies Medinfo
Phone: 1-833-828-3947
Email: medinfo.gtx@novartis.com

Backup Contact:


Location Contact:

Los Angeles, California 90027
United States

Martha Arellano-Garcia
Phone: 323-361-5812
Email: margarcia@chla.usc.edu

Site Status: Recruiting

Data Source: ClinicalTrials.gov

Date Processed: September 27, 2021

Modifications to this listing: Only selected fields are shown, please use the link below to view all information about this clinical trial.

Click to view Full Listing

If you would like to be contacted by the clinical trial representative please fill out the form below.