Scientists dive into the genetics of moebius syndrome
NCT ID NCT02055248
First seen Jun 27, 2026 · Last updated Sep 02, 2026 · Updated 13 times
Summary
This completed study by the National Human Genome Research Institute looked at 207 people with Moebius syndrome or similar congenital facial weakness disorders, along with their family members. Researchers aimed to better understand the genetic and clinical features of these conditions through detailed evaluations over 3-5 days. The study did not test any treatment but focused on gathering information to help future research.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could improve understanding of the genetic causes of Moebius syndrome, potentially pointing toward future diagnostic or therapeutic approaches.
- What could go wrong
- This is an observational study, not a treatment trial. It aims to gather knowledge, not test a cure or therapy, so direct patient benefits are not expected.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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207 people
The number who actually took part.
- Started
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May 2014
- Finished
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Apr 2020
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Subjects with Moebius or related syndromes and their family members and healthy volunteers.
- Ages
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2 to 80 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* INCLUSION CRITERIA: 1. Subject is 2-80 years, any gender, race or ethnic group, inclusive. 2. Subject has a diagnosis of congenital facial palsy, isolated or combined with other congenital anomalies, based on MPIs review of prior medical records and interview with patient and/or patient physicians. 3. Subject is a family member of a patient with a diagnosis of congenital facial palsy, isolated or combined with other congenital anomalies. 4. Subject has the ability to travel to the NIH Clinical Center for admissions. 5. Subject or subject s legal guardian is able to provide written informed consent. EXCLUSION CRITERIA: 1. Subject has severe respiratory difficulties (i.e., requiring a tracheostomy or other assistive device to maintain respiration) or other disease manifestation that would interfere with the ability to comply with the requirements of this protocol and/or pose a severe anesthesia risk. 2. Subject has a psychiatric illness or neurological disease that would interfere with the ability to comply with the requirements of this protocol. This includes, but is not limited to, uncontrolled/untreated psychotic depression, bipolar disorder, schizophrenia, substance abuse or dependence, antisocial personality disorder, or panic disorder. 3. Subject shows evidence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease, or has a condition that requires immediate surgical intervention. 4. Subject is pregnant during the study. 5. Subject or subject s legal guardian is unable or unwilling to provide consent or assent. 6. The principal investigator may decline to enroll a patient for other reasons.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.