Medical Information Only. Always consult your healthcare provider before enrolling in any clinical trial.
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: Completed study of Craniosynostosis and Muenke Syndrome, sponsored by National Human Genome Research Institute (NHGRI).
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. According to ClinicalTrials.gov, the official US trial registry.
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
Primary Outcome
The objective of this study is primarily to increase our understanding of the genetics and clinical characteristics of Muenke syndrome.
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 |
What the finished NCT00106977 record still lists
NCT00106977 is an observational study that tracks outcomes without assigning an intervention. The registered 137 participants enrollment target is mid-sized for trials with a published cap.
The record links to 2 conditions, with Craniosynostosis appearing as the primary indexed condition, and to 0 interventions.
NCT00106977 reports a single indexed study location in 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.
Learn More About Clinical Trials
Similar trials for Craniosynostosis
Matched on the same primary condition, ranked to surface studies in the same phase first, then by recruiting status, no relevance scoring or editorial curation.
Nationwide trials with similar profiles
Cross-condition peers matched on enrollment target and registry start date, not the same-condition list above.
Similar enrollment target
- NCT05091424 · 137 participants · Phase 1
A Study Evaluating the Safety, Efficacy, and Pharmacokinetics of Mosunetuzumab and a Combined Regimen of Mosunetuzumab and Venetoclax in Participants With Relapsed or Refractory Chronic Lymphocytic Leukemia
- NCT05655182 · 137 participants · Phase 1
A Study of BLB-201 RSV Vaccine in Infants and Children
- NCT06571669 · 137 participants · NA
BOOM-IBD2 Pivotal Clinical Trial
- NCT06644768 · 137 participants · Phase 1
A Study of Valemetostat Tosylate Plus Pembrolizumab Versus Pembrolizumab Alone in First-Line NSCLC Without Actionable Genomic Alterations
Similar registry start date
- NCT05962346 · started 2026-12 · NA
Fetal Endoscopic Tracheal Occlusion for Congenital Diaphragmatic Hernia
- NCT07125183 · started 2026-12 · Phase 2
Study on Efficacy and Tolerability of Weekly Doxorubicin in Elderly Patients With Advanced or Metastatic Leiomyosarcoma
- NCT07292298 · started 2026-11 · Phase 2
Phase 2 Single-Arm Rectal Cancer Brachytherapy for Patients With Low-Lying Residual Adenocarcinoma After Total Neoadjuvant Therapy to Improve Organ Preservation Rates
- NCT04263285 · started 2026-10 · NA
Treatment of Depression Post-SCI