Purpose

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.

Condition

Eligibility

Eligible Ages
All ages
Eligible Genders
All
Accepts Healthy Volunteers
No

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.

Study Design

Phase
Study Type
Observational [Patient Registry]
Observational Model
Ecologic or Community
Time Perspective
Prospective

Arm Groups

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

Recruiting Locations

University of Kansas Medical Center
Kansas City, Kansas 66160
Contact:
Rebecca Clay
913-588-1227
rclay@kumc.edu

More Details

Status
Recruiting
Sponsor
AveXis, Inc.

Study Contact

Novartis Gene Therapies (former AveXis) Medinfo
1-833-828-3947
medinfo.gtx@novartis.com

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.

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.