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

Novartis

Status

Enrolling

Conditions

Spinal Muscular Atrophy (SMA)

Treatments

Other: Prospective observational registry

Drug: Zolgensma

Study type

Observational

Funder types

Industry

Identifiers

NCT04174157

COAV101A12001

Details and patient eligibility

About

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.

Full 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.

Enrollment

700 estimated patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria

Patients treated with OAV-101 with a genetically confirmed diagnosis of SMA regardless of the date of diagnosis.
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 who are participating in a Compassionate Use Program (CUP) for OAV-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 a genetic or clinical diagnosis of SMA.