Genetic Analysis of Craniosynostosis, Philadelphia Type
Completed
Conditions studied: Craniosynostosis, Philadelphia Type Craniosynostosis
In brief
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 one or more of the fibrous joints between the bones of the skull before brain growth is complete. Because of the premature closure, the brain is not able to grow in its natural shape; instead, it compensates with growth in areas of the skull where the joints have not yet closed. The defects in raniosynostosis, Philadelphia type, include skull malformations and webbing of the fingers and toes. Gene changes known to be involved in other craniosynostosis syndromes have not been found in the Philadelphia type syndrome. Therefore, finding the genetic basis of this disorder will provide important new information regarding craniofacial and limb development. This study includes members of a single large family affected with craniosynostosis, Philadelphia type. Participants have 1 to 2 teaspoons of blood drawn for genetic studies. A second blood sample may be requested for further research. Some blood may be used to establish a cell line for later studies. This involves growing the white blood cells from the blood sample. The cells can be kept in the laboratory to make more DNA or can be frozen for later use in craniosynostosis studies. Patients may also have their medical records reviewed.
Key facts
- Study ID
- NCT00367796
- Run by
- National Human Genome Research Institute (NHGRI)
- People needed
- 25
- Starts
- 2005-01-05
- Expected to finish
- 2008-12-23
- Last updated by the study team
- 2017-07-02
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- 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.
Where it is running
- Childrens Hospital, Philadelphia — Philadelphia, Pennsylvania, United States
Full record on ClinicalTrials.gov
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