Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
Study Details
Study Description
Brief Summary
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations of the survival motor neuron 1 (SMN1) gene.
The investigators will conduct a systematic review of the contents and activities collected via a comprehensive case report form. Patients who fulfilled diagnostic criteria for SMA type 1 will be reviewed retrospectively.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
The primary objective of this study is to investigate the natural history of patients with spinal muscular atrophy (SMA) type 1 in Taiwan. This study will provide further insights into the clinical course and pathogenesis of SMA. Several analyses will be conducted regarding overall survival, respiratory support, feeding and nutritional support. The following outcome variables will be examined: correlation between SMA genotype and phenotype, survival, age of onset, and age of confirmed diagnosis, proportion of patients using non-invasive and invasive respiratory support, time to first use of respiratory support, proportion of patients on permanent ventilation, and time to permanent ventilation, number and average duration of hospitalizations, proportion of patients with gastrostomy, number of non-serious and serious respiratory infections, trend of growth parameter (e.g., body weight).
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| type 1 spinal muscular atrophy The age of onset of patients with type 1 SMA is below 6 months of age. |
Outcome Measures
Primary Outcome Measures
- Age of death [up to 36 years]
participants will be followed till the age of death
Secondary Outcome Measures
- Age of permanent ventilation [up to 36 years]
participants will be followed till ventilation used 24 hours/day
Other Outcome Measures
- Clinical outcome with the following measures-1 [up to 36 years]
Age of onset
- Clinical outcome with the following measures-2 [up to 36 years]
Copy numbers of SMN2 gene
- Clinical outcome with the following measures-3 [up to 36 years]
Methods of Nutritional Supportive
- Clinical outcome with the following measures-4 [up to 36 years]
Methods of Respiratory Supportive
Eligibility Criteria
Criteria
Inclusion Criteria:
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Jan. 1979~ 30 Jun. 2014 diagnosed with Spinal Muscular Atrophy (SMA)Type 1
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Onset of paralytic floppy infant less than 6 months of age
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Generalized hypotonia and symmetric weakness, which weakness is more severe in proximal than distal part of extremities
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Weakness in the legs is greater than in the arms
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Tendon reflexes are absent
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Neurogenic changes in electromyogram and/or muscle pathology
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SMN1 gene deletion or mutation
Exclusion Criteria:
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Non-5q SMA (no deletion or mutation of SMN1 gene)
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SMA type 2, type 3 or type 4 (onset of SMA after 6 months of age)
Contacts and Locations
Locations
No locations specified.Sponsors and Collaborators
- Kaohsiung Medical University Chung-Ho Memorial Hospital
- Biogen
- Taipei Medical University WanFang Hospital
- Taipei Veterans General Hospital, Taiwan
- Mackay Memorial Hospital
- Chang Gung Memorial Hospital
- China Medical University Hospital
- Chung Shan Medical University
- Changhua Christian Hospital
- Taichung Veterans General Hospital
- Chi Mei Medical Hospital
- Cathay General Hospital
- Shin Kong Wu Ho-Su Memorial Hospital
- Kaohsiung Veterans General Hospital.
- National Cheng-Kung University Hospital
- Buddhist Tzu Chi General Hospital
- Kaohsiung Medical University
- Taipei Medical University Shuang Ho Hospital
- National Taiwan University Hospital
- Taipei Medical University Hospital
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- SMA-NHR10311