Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
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|ClinicalTrials.gov Identifier: NCT02466529|
Recruitment Status : Completed
First Posted : June 9, 2015
Last Update Posted : June 22, 2017
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|
|Natural History of Type 1 Spinal Muscular Atrophy (SMA)|
|Study Type :||Observational|
|Actual Enrollment :||111 participants|
|Official Title:||Natural History of Spinal Muscular Atrophy Type 1 in Taiwan|
|Study Start Date :||June 2015|
|Actual Primary Completion Date :||December 2015|
|Actual Study Completion Date :||December 2015|
type 1 spinal muscular atrophy
The age of onset of patients with type 1 SMA is below 6 months of age.
- Age of death [ Time Frame: up to 36 years ]participants will be followed till the age of death
- Age of permanent ventilation [ Time Frame: up to 36 years ]participants will be followed till ventilation used 24 hours/day
- Clinical outcome with the following measures-1 [ Time Frame: up to 36 years ]Age of onset
- Clinical outcome with the following measures-2 [ Time Frame: up to 36 years ]Copy numbers of SMN2 gene
- Clinical outcome with the following measures-3 [ Time Frame: up to 36 years ]Methods of Nutritional Supportive
- Clinical outcome with the following measures-4 [ Time Frame: up to 36 years ]Methods of Respiratory Supportive