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Genetic Analysis of Craniosynostosis, Philadelphia Type

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00367796
Recruitment Status : Completed
First Posted : August 23, 2006
Last Update Posted : July 2, 2017
Information provided by:
National Institutes of Health Clinical Center (CC)

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 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.

Condition or disease
Craniosynostosis Philadelphia Type Craniosynostosis

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 hereditary craniosynostosis syndromes. In the five generation kindred previously reported we have conducted a genome-wide linkage analysis. We have identified four regions linked to this disorder, namely on 2q, 12q, 20q and 22q. Interestingly, syndactyly 1A, a phenotypically similar disorder, demonstrates an overlapping linkage region in two studies. Screening of candidate genes in the redion has excluded ten candidate genes, including IHH, IGFBP2 and IGFBP5.

This protocol is primarily for research purposes. Research subjects may receive benefit from knowing that this research may help other families in the future. Results will be discussed with the primary physician who is a trained medical geneticist. We will emphasize that these are only preliminary findings, that they are not CLIA-approved, and must not be disclosed to the patient or included in the medical record. Repeat testing in a CLIA-approved lab would be required before the specific genetic information could be shared with the patient and family.

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Study Type : Observational
Enrollment : 25 participants
Official Title: Genetic Analysis of Craniosynostosis, Philadelphia Type (OMIM 601222)
Study Start Date : January 5, 2005
Study Completion Date : December 23, 2008

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.


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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00367796

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United States, Pennsylvania
Childrens Hospital, Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)

Layout table for additonal information Identifier: NCT00367796    
Other Study ID Numbers: 999905072
First Posted: August 23, 2006    Key Record Dates
Last Update Posted: July 2, 2017
Last Verified: December 23, 2008
Keywords provided by National Institutes of Health Clinical Center (CC):
Philadelphia Type
Additional relevant MeSH terms:
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Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Congenital Abnormalities