Genetic Analysis of Craniosynostosis, Philadelphia Type

Status Completed

Clinical Trial 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.

Clinical Trial 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. ;

Study Design

Related Conditions & MeSH terms

Craniosynostoses
Craniosynostosis
Philadelphia Type Craniosynostosis

Clinical Trial Details

NCT number	NCT00367796
Study type	Observational
Source	National Institutes of Health Clinical Center (CC)
Contact
Status	Completed
Phase	N/A
Start date	January 5, 2005
Completion date	December 23, 2008

View Details

See also
Status	Clinical Trial	Phase
Withdrawn	`NCT00769847` - Endoscopic Treatment for Isolated, Single Suture Craniosynostosis	N/A
Completed	`NCT00077831` - Child and Infant Learning Project	N/A
Recruiting	`NCT03231085` - Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child	N/A
Active, not recruiting	`NCT02229968` - Efficacy of Amicar for Children Having Craniofacial Surgery	Phase 2
Completed	`NCT02287805` - Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care	N/A
Enrolling by invitation	`NCT05911139` - Influence of General Anesthesia on the Dynamic Changes in Brain Damage Markers During and After Craniosynostosis Operations in Infancy
Completed	`NCT00912119` - Amicar Pharmacokinetics of Children Having Craniofacial Surgery	Phase 1
Completed	`NCT00106977` - Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
Withdrawn	`NCT02561728` - Hanger Helmet Study	N/A
Terminated	`NCT00722436` - Tranexamic Acid for Craniofacial Surgery	Phase 4
Completed	`NCT01898650` - MRI for Non-invasive Evaluation of Brain Stress	N/A
Active, not recruiting	`NCT03025763` - Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones
Completed	`NCT02188576` - The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery	Phase 4
Completed	`NCT00773643` - Osteogenic Profiling of Tissue From Children With Craniosynostosis	N/A
Enrolling by invitation	`NCT04704284` - Comparing MRI to CT on Pediatric Craniosynostosis.	N/A

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.