European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

Institut de Myologie, France

Status: Completed

Conditions: Spinal Muscular Atrophy

Study type: Observational

Funder types: Other

Identifiers

NCT03339830

IO-SMA-Registry

2017-A02291-52 (Other Identifier)

Details and patient eligibility

About

IO-SMA-Registry is a prospective, longitudinal and observational study which objective is to collect prospectively information on longevity, psychomotor development and respiratory function of patients with infantile-onset spinal muscular atrophy.

Enrollment: 100 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Spinal Muscular Atrophy diagnosed in childhood (before 18 months) and genetically confirmed.
• For patients with SMA type 1: Never acquired independent sitting position (more than 30 seconds, without hand support or any external support)
• For patients with SMA type 2 or 3: Patient treated with a market approved treatment for SMA or with a treatment in an expanded access program
• Any age
• Patients over 18 years of age or parent(s)/legal guardian(s) of patients < 18 years of age not opposed to data collection for research purposes

Exclusion criteria

• None