NCT03300869

Natural History of Types 2 and 3 SMA in Taiwan

Natural History of Types 2 and 3 Spinal Muscular Atrophy in Taiwan

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 300 (estimated)
• Sponsor: Kaohsiung Medical University Chung-Ho Memorial Hospital · Academic / Other
• Sex: All
• Age: 6 Months – 70 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Spinal Muscular Atrophy

Timeline

• Start date: 2017-09-01
• Primary completion: 2019-12-01
• Completion: 2019-12-01
• First posted: 2017-10-04
• Last updated: 2019-07-26

Locations

1 site across 1 country: Taiwan