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NCT02055248 · ClinicalTrials.gov registry record
Study on Moebius Syndrome and Congenital Facial Weakness Disorders
A clinical trial, sponsored by National Human Genome Research Institute (NHGRI).
- Completed
- Registry status
- 207
- Enrollment target
NCT02055248: Completed study, sponsored by National Human Genome Research Institute (NHGRI).
NCT02055248 is a clinical trial that has completed, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 207 participants. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT02055248 has completed, sponsored by National Human Genome Research Institute (NHGRI).
- COMPLETED
- Registry status
- 207 participants
- Enrollment target
Study Summary
Background: \- 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. Objective: \- To learn more about the genetics and clinical characteristics of Moebius syndrome and other Congenital Facial Weakness disorders. Eligibility: \- People ages 2 to 80 years with congenital facial weakness, isolated or combined with other congenital anomalies, and their family members. Design: * 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 functions. * 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 sed
Primary Outcome
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.
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 207 participants |
| Start Date | 2014-05-20 |
| Est. Completion | 2020-04-29 |
What the finished NCT02055248 record still lists
NCT02055248 is an observational study that tracks outcomes without assigning an intervention. The registered 207 participants enrollment target is mid-sized for trials with a published cap.
The record links to 0 conditions, and to 0 interventions.
NCT02055248 does not publish any study locations in the registry export this page uses.
Frequently Asked Questions
What is clinical trial NCT02055248 about?
NCT02055248 is a clinical study titled "Study on Moebius Syndrome and Congenital Facial Weakness Disorders". Background: \- 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 M...
What is the current status of trial NCT02055248?
This trial is currently completed. The enrollment target is 207 participants. The study started on 2014-05-20. Estimated completion is 2020-04-29.
Who is sponsoring clinical trial NCT02055248?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
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