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

Description

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.

Conditions

Spinal Muscular Atrophy (SMA)

Study Overview

Study Details

Study overview

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.

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

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

Condition
Spinal Muscular Atrophy (SMA)
Intervention / Treatment

-

Contacts and Locations

Phoenix

Phoenix Children's Hospital, Phoenix, Arizona, United States, 85016

Little Rock

Arkansas Children's Hospital, Little Rock, Arkansas, United States, 72202

Loma Linda

Loma Linda University Health, Loma Linda, California, United States, 92350

Los Angeles

Children's Hospital of Los Angeles, Los Angeles, California, United States, 90027

Los Angeles

University of California Los Angeles Health, Los Angeles, California, United States, 90095

Madera

Valley Children's Healthcare, Madera, California, United States, 93636

Madera

Children's Hospital of Orange County, Madera, California, United States, 93638

Sacramento

University of California Davis Health System, Sacramento, California, United States, 95817

San Diego

Rady Children's Hospital San Diego, San Diego, California, United States, 92123

Aurora

Children's Hospital Colorado, Aurora, Colorado, United States, 80045

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Novartis Pharmaceuticals,

Novartis Pharmaceuticals, STUDY_DIRECTOR, Novartis Pharmaceuticals

Study Record Dates

2038-06-30