Natural History of Types 2 and 3 SMA in Taiwan

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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Spinal Muscular Atrophy

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients are diagnosed with SMA types 2 or 3 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. SMN1 gene deletion or mutation and/or neurogenic changes in electromyogram and/or muscle pathology. Exclusion Criteria: Non-5q SMA (no deletion or mutation of SMN1 gene) patients. Type 1 SMA patients.

Ages Eligible for Study
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Minimum Age: 6 Months
Maximum Age: 70 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Describe 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. | through study completion, an average of 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Disease onset in patients with SMA types 2 and 3 | Number of participants with disease onset as assessed by year | 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 | 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 | 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 | through study completion, an average of 2 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Spinal Muscular Atrophy, Natural History