Ignite Creation Date:
2024-05-06 @ 7:04 AM
Last Modification Date:
2024-10-26 @ 11:44 AM
Study NCT ID:
NCT02466529
Status:
COMPLETED
Last Update Posted:
2017-06-22
First Post:
2015-06-02
Brief Title:
Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
Sponsor:
Kaohsiung Medical University Chung-Ho Memorial Hospital
Organization:
Kaohsiung Medical University Chung-Ho Memorial Hospital
Study Overview
Official Title:
Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
Status:
COMPLETED
Status Verified Date:
2017-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
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 eg body weight
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None