Status:
COMPLETED
Genetic Analysis of Craniofrontonasal Syndrome
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Craniofrontonasal Syndrome
CFNS
Eligibility:
All Genders
Brief Summary
This study will determine whether all patients with craniofrontonasal syndrome (CFNS) have a mutation of a gene called ephrin-B1 (EFNB1). CFNS is one of a group of conditions called craniosynostosis s...
Detailed Description
The scientific objective of this study is to determine if all patients with Craniofrontonasal Syndrome (CFNS) contain mutations in the ephrin-B1 (EFNB1) gene in Xq12. We will use mutational analysis o...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- CFNS patients and their families who were previously referred to us; the majority have DNA samples and clinical data already archived in our collection.
- EXCLUSION CRITERIA:
- Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
- We generally reviewed a brief clinical description from the referring physician about a potential research subject to determine that the subject was appropriate to enter into the study. We reserved the right to exclude cases that were clearly not related to our direct research interests.
Exclusion
Key Trial Info
Start Date :
January 5 2005
Trial Type :
OBSERVATIONAL
End Date :
September 17 2008
Estimated Enrollment :
152 Patients enrolled
Trial Details
Trial ID
NCT00339846
Start Date
January 5 2005
End Date
September 17 2008
Last Update
July 2 2017
Active Locations (1)
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1
Childrens Hospital, Philadelphia
Philadelphia, Pennsylvania, United States, 19104