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Protocol Details

Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

14-HG-0055

Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2
Max Age: 80

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Genetic Counseling;
Mobius Syndrome;
Birth Defects;
Congenital Malformations;
Gene Identification

Recruitment Keyword(s)

None

Condition(s)

Brain Disorders;
Birth Defects;
Craniofacial Differences

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Human Genome Research InstituteNational Eye InstituteNational Institute of Child Health and Human DevelopmentMount Sinai School of MedicineBoston Children's Hospital

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 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.

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Eligibility

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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Citations:

M(SqrRoot)(Delta)bius PJ. About congenital bilateral abducens and facialis palsy (1888). Strabismus. 2008 Jan-Mar;16(1):39-44. doi: 10.1080/09273970801946737.

Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC. A novel syndrome caused by the E410K amino acid substitution in the neuronal <=-tubulin isotype 3. Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31.

Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Am J Hum Genet. 2012 Jul 13;91(1):171-9. doi: 10.1016/j.ajhg.2012.05.018. Epub 2012 Jul 5.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Eirini Manoli, M.D.
National Human Genome Research Institute (NHGRI)
BG 10 RM 7N248B
10 CENTER DR
BETHESDA MD 20814
(301) 402-2543
manolii@mail.nih.gov

Eirini Manoli, M.D.
National Human Genome Research Institute (NHGRI)
BG 10 RM 7N248B
10 CENTER DR
BETHESDA MD 20814
(301) 402-2543
manolii@mail.nih.gov

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT02055248

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