Status:
UNKNOWN
Quantitative Analysis of SMN1 and SMN2 Gene Based on DHPLC System
Lead Sponsor:
National Taiwan University Hospital
Conditions:
Spinal Muscular Atrophy
Eligibility:
All Genders
Brief Summary
In this project, we will establish the efficient and accurate gene dose determination system by combining the heterodulex analysis and gene dose analysis on DHPLC platform based on various quantitativ...
Detailed Description
Proximal spinal muscular atrophy is an autosomal recessive disorder with an overall incidence of 1 in 10000 live births and a carrier frequency of 1 in 50. This severe neuromuscular disease is charact...
Eligibility Criteria
Inclusion
- Clinical diagnosis of Spinal muscular atrophy
Exclusion
- nil
Key Trial Info
Start Date :
April 1 2004
Trial Type :
OBSERVATIONAL
End Date :
Estimated Enrollment :
500 Patients enrolled
Trial Details
Trial ID
NCT00155168
Start Date
April 1 2004
Last Update
September 12 2005
Active Locations (1)
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1
Dept of Medical Genetics;National Taiwan University Hospital
Taipei, Taiwan, 100