Genetic Analysis of Craniofrontonasal Syndrome
Completed
Conditions studied: Craniofrontonasal Syndrome, CFNS
In brief
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 syndromes 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, there is growth in areas of the skull where the joints have not yet closed. In CFNS, it results in malformation of the skull and face. It is known that the EFNB1 mutation can cause CFNS, and this study will see if the gene change is present in all patients with the disorder. This study includes patients and family members affected with CFNS. 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 studies of craniosynostosis. Patients may also have their medical records reviewed to relate gene changes to clinical features in CFNS.
Key facts
- Study ID
- NCT00339846
- Run by
- National Human Genome Research Institute (NHGRI)
- People needed
- 152
- Starts
- 2005-01-05
- Expected to finish
- 2008-09-17
- 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.
- 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.
Where it is running
- Childrens Hospital, Philadelphia — Philadelphia, Pennsylvania, United States
Full record on ClinicalTrials.gov
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