Study on Moebius Syndrome and Congenital Facial Weakness Disorders
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|ClinicalTrials.gov Identifier: NCT02055248|
Recruitment Status : Completed
First Posted : February 5, 2014
Last Update Posted : June 24, 2022
- 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.
|Condition or disease|
|Brain Disorders Birth Defects Craniofacial Differences|
|Study Type :||Observational|
|Actual Enrollment :||207 participants|
|Official Title:||Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders|
|Actual Study Start Date :||May 20, 2014|
|Actual Primary Completion Date :||April 29, 2020|
|Actual Study Completion Date :||April 29, 2020|
Subjects with Moebius or related syndromes and their family me
Subjects with Moebius or related syndromes and their family members and healthy volunteers.
- Employ genetic studies to study the molecular bases underlying congenital facial weakness syndromes. [ Time Frame: One visit only ]Employ genetic studies, including comparative genomic hybridization, candidate gene testing and/or whole exome and genome sequencing to study the molecular bases underlying these syndromes. Our hypothesis is that disease-causing mutations will be present in the proteincoding regions of the genome, as germline or somatic mutations. In the future whole genome sequencing may be considered.
- Characterize the phenotype of patients with typical Moebius syndrome [ Time Frame: One visit only ]To characterize the phenotype of patients with typical Moebius syndrome, defined as uni- or bilateral facial and uni- or bilateral abducens nerve palsy and patients with atypical Moebius-like phenotypes that include facial weakness, including Moebius-Poland, Moebius-Robin or Moebius-Kallmann syndromes, Carey-Fineman-Ziter syndrome, Hereditary Congenital Facial Paresis (HCFP), oculoauriculovertebral dysplasia (Goldenhar syndrome), among others, and determine the prevalence of associated malformations. Our primary hypothesis is that oculomotor, neuromuscular, skeletal or imaging endophenotypes will help categorize the various groups more accurately and inform subsequent genetic studies.
- Obtain brain-imaging studies including DTI/tractography [ Time Frame: one time only ]Obtain brain-imaging studies including DTI/tractography in a large cohort of patients with congenital malformations associated with facial weakness to explore anomalies in brain and brainstem structure and associated white matter anomalies and fiber tract connectivity, together with a careful delineation of patients' neurocognitive andbehavioral phenotype. Results from this distinct developmental disorder will be compared to data from normal children and children with non-syndromic autism.
- Study the neurocognitive, behavioral, and quality of life outcomes of individuals with congenital facial weakness [ Time Frame: one time only ]Study the neurocognitive, behavioral, and quality of life outcomes of individuals with these syndromes, and provide proper genetic counseling about management, prognosis, and recurrence risk to affected families
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): NCT02055248
|United States, Maryland|
|National Institutes of Health Clinical Center|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Eirini Manoli, M.D.||National Human Genome Research Institute (NHGRI)|