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NCT00106977 · ClinicalTrials.gov registry record
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
A clinical trial of Craniosynostosis and Muenke Syndrome, sponsored by National Human Genome Research Institute (NHGRI).
- Completed
- Registry status
- 137
- Enrollment target
- 2
- Study locations
NCT00106977 is a study of Craniosynostosis and Muenke Syndrome that has completed, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 137 participants. The trial reports 2 study locations across 2 states.
The verdict
NCT00106977, a study of Craniosynostosis and Muenke Syndrome, has completed, sponsored by National Human Genome Research Institute (NHGRI).
- COMPLETED
- Registry status
- 137 participants
- Enrollment target
- 2
- Study locations
Study Summary
This study will explore the range and type of medical and developmental problems in patients with Muenke syndrome, a condition that results when one or more of the suture between the bones of the skull close before birth. Because of the premature closure, the skull is not able to grow in its natural shape; instead, it compensates with growth in areas of the skull where the sutures have not yet closed. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. Patients may also have an enlarged head, abnormalities of the hands or feet, and hearing loss. The fibroblast growth factor receptor 3 (FGFR3) gene, which is involved in the development and maintenance of bone tissue, plays a role in Muenke syndrome. In some cases, the FGFR3 mutation is inherited from a parent with Muenke syndrome; in other cases, where there is no family history of the disorder, the mutation occurs anew. A better understanding of this gene may lead researchers to develop better treatments and genetic counseling for people affected by Muenke syndrome. Patients with Muenke syndrome and their blood relatives may be eligible for this study. Family members with confirmed Muenke syndrome will have genetic counseling, and patients undergo the following tests and procedures: * Review of medical records and test results. * Questionnaires about the patient's prenatal, birth, newborn, and past medical history; family history; growth and development; medications; and current therapies. * Physical, neurological, ear, nose and throat, dental, and eye examinations. * Neuropsychological testing to assess cognitive thinking abilities. * Hearing evaluation. This includes an audiology test in which the patients listens to soft tones through earphones; a power reflectance test in which a chirping sound is heard through an earpiece placed at the entrance to the ear canal, and possibly an ABR/ASSR test, in which electrodes are attached to the forehead, earlobes, and behind the ears to
Conditions Studied
Study Locations (2)
District of Columbia
- Childrens National Medical Center - Washington D.C.
Maryland
- National Institutes of Health Clinical Center, 9000 Rockville Pike - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 137 participants |
| Start Date | 2005-03-31 |
| Est. Completion | 2020-03-23 |
Interested in This Trial?
Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00106977
The ClinicalTrials.gov registry entry for NCT00106977 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 137 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 Craniosynostosis appearing as the primary indexed condition, and to 0 interventions.
NCT00106977 reports 2 study locations spanning 2 distinct geographic areas - top geographies include District of Columbia, Maryland.
Frequently Asked Questions
What is clinical trial NCT00106977 about?
NCT00106977 is a clinical study titled "Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)". This study will explore the range and type of medical and developmental problems in patients with Muenke syndrome, a condition that results when one or more of the suture between the bones of the skull close before birth. Because of the premature closure, the skull is not able to grow in its natural...
What is the current status of trial NCT00106977?
This trial is currently completed. The enrollment target is 137 participants. The study started on 2005-03-31. Estimated completion is 2020-03-23.
What conditions does trial NCT00106977 study?
This clinical trial studies the following conditions: Craniosynostosis, Muenke Syndrome.
Who is sponsoring clinical trial NCT00106977?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT00106977 being conducted?
This trial has 2 study locations across District of Columbia, Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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