Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders
- Moebius syndrome limits the ability to make facial expressions like smile, frown or blink - and move the eyes laterally. It can also cause speech, swallowing or breathing difficulties and affect parts of the body, such as the limbs, jaw, muscles, or the heart. Some individuals with Moebius can have intellectual impairment or behavior problems. Researchers want to study the clinical features of individuals with Moebius or related disorders and explore the genetic and/or environmental causes of these conditions.
- To learn more about the genetics and clinical characteristics of Moebius syndrome and other Congenital Facial Weakness disorders.
- People ages 2 to 80 years with congenital facial weakness, isolated or combined with other congenital anomalies, and their family members.
- Participants with Moebius syndrome or other congenital facial weakness disorder will be evaluated at the NIH Clinical Research Center over 3 to 5 days and undergo the following procedures:
- Medical and family history and physical examination, including body measurements and vital signs.
- Blood or saliva will be collected for genetic tests and to evaluate liver, kidney, heart and hormonal
- Eye examination, including having a video taken of their eyes moving.
- Hearing evaluation.
- Speech and language assessment, including swallowing studies.
- Dental exam.
- Detailed neurological evaluation, including electromyogram/nerve conduction and blink reflex study.
- Rehabilitation medicine evaluation, including muscle and tongue strength testing and assessment of balance.
- Neurocognitive and behavioral testing and questionnaires to assess quality of life and copying mechanisms.
- Imaging studies of their head, by magnetic resonance and diffusion tensor imaging -MRI/DTI. Participants
will lie on a table that slides into a metal cylinder that takes images of internal body structures using
magnets. Child participants may be sedated.
- Some adults may have additional X-rays of their head or limbs, if there are abnormal findings.
- Medical photographs of the face and affected body parts may be taken.
- Other specialized tests or consultations, as indicated.
- Participants can choose to have a skin biopsy taken.
- A follow-up visit will be offered to participants for review of genetic test findings and possibly additional clinical tests, as indicated.
Family members of the patients will have a medical and family history and physical examination. Blood or saliva will be obtained for genetic studies.
|Study Design:||Time Perspective: Retrospective|
|Official Title:||Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders|
- Characterize the phenotype of Moebius syndrome and other congenital facial weakness disorders to determine the prevalence of associated malformations and inform subsequent genetic studies. [ Time Frame: 3 years ]
- Obtain imaging studies to explore cranial nerve structure and associated brain/brainstem and white matter tract anomalies and associate with the neurocognitive and behavioral phenotype of the patients. [ Time Frame: 3 years ]
|Study Start Date:||January 27, 2014|
|Estimated Study Completion Date:||September 4, 2017|
|Estimated Primary Completion Date:||September 4, 2017 (Final data collection date for primary outcome measure)|
Please refer to this study by its ClinicalTrials.gov identifier: NCT02055248
|Contact: Eirini Manoli, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Eirini Manoli, M.D.||National Human Genome Research Institute (NHGRI)|
|Principal Investigator:||Brian Brooks, M.D., Ph.D.||National Eye Institute (NEI)|
|Principal Investigator:||Carlo Pierpaoli, M.D., Ph.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|
|Principal Investigator:||Ethylin Wang Jabs, M.D.||Icahn School of Medicine at Mount Sinai|
|Principal Investigator:||Elizabeth C. Engle, M.D.||Boston Children’s Hospital|