Natural History of Types 2 and 3 SMA in Taiwan

Kaohsiung Medical University

Status: Unknown

Conditions: Spinal Muscular Atrophy

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT03300869

SMA_RV

Details and patient eligibility

About

The primary objective of this study is to investigate the natural history of spinal muscular atrophy (SMA) types 2 and 3 patients in Taiwan. This study will provide further insights into the clinical course SMA. Several analyses will be conducted regarding overall survival, demographic characteristics, motor function, respiratory and nutritional support, and genotype and phenotype correlation.

Full description

As with other rare diseases, individual groups of SMA have therefore opted to share patient information in the form of clinical sites to increase the overall patient cohorts on which clinical outcomes and new assisted-healthcare technologies can be assessed. Using the collaborative and retrospective study of types 2 and 3 SMA patients in Taiwan, the investigators aim to 1) characterize the correlation of genotype and phenotype, 2) correlate the onset, progression, management with disease outcome, 3) depict comorbidity and within type 2 and 3 SMA patients with different SMN2 copy number.

Enrollment: 300 estimated patients

Sex: All

Ages: 6 months to 70 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Patients are diagnosed with SMA types 2 or 3
2. Generalized hypotonia and muscle weakness, weakness of the legs is greater than the arms, and the proximal part is weaker than distal part of extremities.
3. SMN1 gene deletion or mutation and/or neurogenic changes in electromyogram and/or muscle pathology.

Exclusion criteria

1. Non-5q SMA (no deletion or mutation of SMN1 gene) patients.
2. Type 1 SMA patients.