Status:
UNKNOWN
Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.
Lead Sponsor:
National Taiwan University Hospital
Conditions:
Spinal Muscular Atrophy
Neonatal Hyperbilirubinemia
Eligibility:
All Genders
Brief Summary
In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusio...
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 (SMA)
Exclusion
- nil
Key Trial Info
Start Date :
June 1 2004
Trial Type :
OBSERVATIONAL
End Date :
Estimated Enrollment :
1000 Patients enrolled
Trial Details
Trial ID
NCT00154960
Start Date
June 1 2004
Last Update
November 28 2005
Active Locations (1)
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1
Dept of Medical Genetics;National Taiwan University Hospital
Taipei, Taiwan, 100