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.
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 Type
OBSERVATIONAL
Enrollment
300
Kaohsiung Medical University Chung-Ho Memorial Hospital
Kaohsiung City, Taiwan
RECRUITINGDescribe the correlation of genotype and phenotype in SMA types 2 and 3
Genotype is defined by SMN 2 copy number(s) and phenotype is defined by clinical types and characteristics.
Time frame: through study completion, an average of 2 years
Disease onset in patients with SMA types 2 and 3
Number of participants with disease onset as assessed by year
Time frame: through study completion, an average of 2 years
Disease mortality in patients with SMA types 2 and 3
Number of participants with disease mortality as assessed by year
Time frame: through study completion, an average of 2 years
Scoliosis in patients with SMA types 2 and 3
Number of participants with scoliosis as assessed by year
Time frame: through study completion, an average of 2 years
BiPAP usage in patients with SMA types 2 and 3
Number of participants with BiPAP usage as assessed by year
Time frame: through study completion, an average of 2 years
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