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Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

Facial Palsy Clinical Trial

Official title:
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

Clinical Trial Summary

The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and related conditions.

Clinical Trial Description

If left untreated or unrecognized, strabismus or misalignment of the eyes, can impair the development of normal vision and is recognized to be an inherited trait in some families. The Engle Lab has investigated the genetics of complex and common strabismus and eyelid movement disorders for over 10 years and the lab's interests have expanded to include Congenital Cranial Dysinnervation Disorders (CCDDs) which are neurological disorders affecting one or more of the 12 cranial nerves. Cranial nerves control bodily functions such as movement of the eyes, transmission of visual information, smell, facial sensation, facial expression, blinking, hearing, balance, taste, chewing and swallowing. Based on genetic studies on individuals with eye movement and eyelid disorders, the lab learned that some individuals have additional ocular defects, vascular, limb and other abnormalities. In addition, in some families relatives who carry the gene mutation may manifest the familial syndrome by having only some additional features but NOT the oculomotility disorder. Therefore, to gain greater understanding of the spectrum of the disorders being investigated, we may also enroll individuals without eye movement or lid defects who have symptoms associated with mutations in congenital cranial dysinnervation disorder (CCDD) genes. ;

Study Design

Related Conditions & MeSH terms

  • Athabaskan Brainstem Dysgenesis
  • Brown Syndrome
  • Congenital Fibrosis of Extraocular Muscles
  • Duane Radial Ray Syndrome
  • Duane Retraction Syndrome
  • Eleventh Nerve Disorder
  • Facial Palsy
  • Facial Paralysis
  • Facial Paresis, Hereditary, Congenital
  • Facies
  • Fibrosis
  • Fifth Nerve Palsy
  • Fourth Nerve Palsy
  • Horizontal Gaze Palsy
  • Horizontal Gaze Palsy With Progressive Scoliosis
  • Levator-Medial Rectus Synkinesis
  • Marcus Gunn Syndrome
  • Mobius Syndrome
  • Moebius Sequence
  • Ninth Nerve Disorder
  • Ocular Motility Disorders
  • Ophthalmoplegia
  • Paralysis
  • Paresis
  • Peripheral Nervous System Diseases
  • Scoliosis
  • Seventh Nerve Palsy
  • Sixth Nerve Palsy
  • Strabismus
  • Strabismus Congenital
  • Syndrome
  • Synkinesis
  • Third Nerve Palsy
  • Tongue Paralysis
  • Trochlear Nerve Diseases
  • Twelfth Nerve Disorder
  • Vagus Nerve Paralysis
Clinical Trial Details
NCT number NCT03059420
Study type Observational
Source Boston Children's Hospital
Contact Brenda J Barry, MS
Phone 617-919-2168
Email brenda.barry2@childrens.harvard.edu
Status Recruiting
Phase
Start date February 1, 2004
Completion date January 2027
View Details
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