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NCT00339846 · ClinicalTrials.gov registry record
Genetic Analysis of Craniofrontonasal Syndrome
A clinical trial of Craniofrontonasal Syndrome and CFNS, sponsored by National Human Genome Research Institute (NHGRI).
- Completed
- Registry status
- 152
- Enrollment target
- 1
- Study location
NCT00339846 is a study of Craniofrontonasal Syndrome and CFNS that has completed, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 152 participants. The trial reports 1 study location across 1 state.
The verdict
NCT00339846, a study of Craniofrontonasal Syndrome and CFNS, has completed, sponsored by National Human Genome Research Institute (NHGRI).
- COMPLETED
- Registry status
- 152 participants
- Enrollment target
- 1
- Study location
Study Summary
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.
Conditions Studied
Study Locations (1)
Pennsylvania
- Childrens Hospital, Philadelphia - Philadelphia
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 152 participants |
| Start Date | 2005-01-05 |
| Est. Completion | 2008-09-17 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00339846
The ClinicalTrials.gov registry entry for NCT00339846 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 152 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 185 total studies on file at ClinicalTrials.gov.
The record links to 2 conditions, with Craniofrontonasal Syndrome appearing as the primary indexed condition, and to 0 interventions.
NCT00339846 reports 1 study location spanning 1 distinct geographic area - top geographies include Pennsylvania.
Frequently Asked Questions
What is clinical trial NCT00339846 about?
NCT00339846 is a clinical study titled "Genetic Analysis of Craniofrontonasal Syndrome". 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 skul...
What is the current status of trial NCT00339846?
This trial is currently completed. The enrollment target is 152 participants. The study started on 2005-01-05. Estimated completion is 2008-09-17.
What conditions does trial NCT00339846 study?
This clinical trial studies the following conditions: Craniofrontonasal Syndrome, CFNS.
Who is sponsoring clinical trial NCT00339846?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT00339846 being conducted?
This trial has 1 study location across Pennsylvania. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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