Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
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|ClinicalTrials.gov Identifier: NCT00106977|
Recruitment Status : Completed
First Posted : April 4, 2005
Last Update Posted : March 26, 2020
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 measure brain waves in response to certain conditions.
- MRI scan of the brain. MRI uses a strong magnetic field and radio waves to produce detailed pictures of the brain. During the scan, the patient lies on a table in a narrow cylinder (the scanner), wearing ear plugs to muffle loud noises that occur with electrical switching of the magnetic fields.
- MRI scan of the middle and inner ear. This test is similar to the MRI, but uses a dye injected in a vein to enhance the images.
- CT scan of the skull. CT uses x-rays to produce 3-dimensional images of the part of the body studied.
- Dental evaluation with x-rays.
- Skeletal survey (x-rays of all bones of the body).
- Developmental assessment of IQ testing.
- Blood tests for research purposes. A cell line may be established for use in future research.
- Medical photographs to demonstrate clinical features, including side and front views of the face, head, and other parts of the body that may be involved in Muenke syndrome, like the hands and feet.
- Other consultations or tests as clinically indicated
|Condition or disease|
|Craniosynostosis Muenke Syndrome|
|Study Type :||Observational|
|Actual Enrollment :||137 participants|
|Official Title:||Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)|
|Actual Study Start Date :||March 31, 2005|
|Actual Primary Completion Date :||March 23, 2020|
|Actual Study Completion Date :||March 23, 2020|
Family members (typically parents or siblings) of probands with Muenke syndrome are alsoeligible to participate.
Subjects who have had confirmation of a p. Pro250Arg mutation in FGFR3 by a CLIA-certified laboratory.
- Understanding [ Time Frame: Ongoing ]The objective of this study is primarily to increase our understanding of the genetics and clinical characteristics of Muenke syndrome.
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 ClinicalTrials.gov identifier (NCT number): NCT00106977
|United States, District of Columbia|
|Childrens National Medical Center|
|Washington, District of Columbia, United States|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Paul S Kruszka, M.D.||National Human Genome Research Institute (NHGRI)|