Ignite Creation Date:
2024-05-05 @ 11:40 AM
Last Modification Date:
2024-10-26 @ 9:11 AM
Study NCT ID:
NCT00106977
Status:
COMPLETED
Last Update Posted:
2020-03-26
First Post:
2005-04-01
Brief Title:
Clinical Study of Muenke Syndrome FGFR3-Related Craniosynostosis
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical Study of Muenke Syndrome FGFR3-Related Craniosynostosis
Status:
COMPLETED
Status Verified Date:
2020-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 patients 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 ABRASSR 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
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 patients 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 ABRASSR 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
Detailed Description:
Craniosynostosis is a common craniofacial abnormality caused by premature fusion of one or several sutures of the skull The prevalence of craniosynostosis is approximately 1 in 2100 to 3000 births Originally described by our group Muenke syndrome OMIM 602849 is a specific form of craniosynostosis caused by a single nucleotide transversion in fibroblast growth factor receptor 3 FGFR3 c749CG resulting in pPro250Arg Individuals carrying the defining mutation variably manifest coronal suture craniosynostosis developmental delay deafness and carpal and tarsal bone fusion The purpose of the present study is to increase our understanding of the clinical manifestations of Muenke syndrome through detailed physical developmental neurologic dental ophthalmologic otolaryngologic audiologic radiologic and geneticgenomic studies We also plan to examine the spectrum of clinical characteristics of Muenke syndrome to facilitate early diagnosis and clinical management including genetic counseling To accomplish this we plan to enroll approximately 10-20 probands as well as their family members each year with an enrollment ceiling of 200 probands Our study has three arms The clinical arm is the major focus of our study Patients and their families will be seen at the NIH Clinical Center and Childrens National Medical Center Individuals with Muenke syndrome who are unable or unwilling to come to the NIH can submit their medical records including a copy of the molecular testing for review The second arm is geneticgenomic studies with the goal of investigating modifying factors that relate to disease severity and expression The third arm consists of a cognitive function development and hearing questionnaire to be completed by patients online via phone or mail
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 05-HG-0131 | None | None | None |