Natural History of Types 2 and 3 SMA in Taiwan

• Conditions: Spinal Muscular Atrophy

• Registration Number: NCT03300869
• Lead Sponsor: Kaohsiung Medical University Chung-Ho Memorial Hospital

Brief Summary

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.

Detailed 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.

Study Timeline

• Study Start: 2017-09-01
• Study First Submitted: 2017-09-13
• Study First Submitted QC: 2017-10-02
• Study First Posted: 2017-10-04
• Status Verified: 2019-07
• Last Update Submitted: 2019-07-24
• Last Update Posted: 2019-07-26
• Primary Completion: 2019-12
• Study Completion: 2019-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 300

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Describe the correlation of genotype and phenotype in SMA types 2 and 3	through study completion, an average of 2 years	Genotype is defined by SMN 2 copy number(s) and phenotype is defined by clinical types and characteristics.

Secondary Outcome Measures

Name	Time	Method
Disease mortality in patients with SMA types 2 and 3	through study completion, an average of 2 years	Number of participants with disease mortality as assessed by year
Disease onset in patients with SMA types 2 and 3	through study completion, an average of 2 years	Number of participants with disease onset as assessed by year
Scoliosis in patients with SMA types 2 and 3	through study completion, an average of 2 years	Number of participants with scoliosis as assessed by year
BiPAP usage in patients with SMA types 2 and 3	through study completion, an average of 2 years	Number of participants with BiPAP usage as assessed by year

Trial Locations

Locations (1)

Kaohsiung Medical University Chung-Ho Memorial Hospital; 🇨🇳 Kaohsiung, Taiwan