Status:
COMPLETED
Genetic Analysis of Craniosynostosis, Philadelphia Type
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Craniosynostosis
Philadelphia Type Craniosynostosis
Eligibility:
All Genders
Brief Summary
This study will try to find the gene changes responsible for the birth defects in craniosynostosis, Philadelphia type. Craniosynostosis syndromes are a group of conditions that result from closure of ...
Detailed Description
The objective of this study is to determine the molecular basis of craniosynostosis, Philadelphia type. Previous studies by our lab have excluded FGFR1, FGFR2 and FGFR3, the causative genes of most he...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- This research includes only craniosynostosis Philadelphia type patients and members of a single family who were previously referred to us and other family members who have since displayed interest in participating in this study.
- EXCLUSION CRITERIA:
- Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
- Medical condition(s) are not in themselves reason for exclusion if in the judgment of the referring physician this would involve no more than minimal risk.
- 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. For new participants, we will review the clinical description from the referring physician and we reserve the right to exclude cases.
Exclusion
Key Trial Info
Start Date :
January 5 2005
Trial Type :
OBSERVATIONAL
End Date :
December 23 2008
Estimated Enrollment :
25 Patients enrolled
Trial Details
Trial ID
NCT00367796
Start Date
January 5 2005
End Date
December 23 2008
Last Update
July 2 2017
Active Locations (1)
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1
Childrens Hospital, Philadelphia
Philadelphia, Pennsylvania, United States, 19104