NCT03059420

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

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 20,000 (estimated)
• Sponsor: Boston Children's Hospital · Academic / Other
• Sex: All
• Age: 1 Day
• Healthy volunteers: Accepted

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.

Detailed 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.

Conditions

• Congenital Fibrosis of Extraocular Muscles
• Duane Retraction Syndrome
• Duane Radial Ray Syndrome
• Mobius Syndrome
• Brown Syndrome
• Marcus Gunn Syndrome
• Strabismus Congenital
• Horizontal Gaze Palsy
• Horizontal Gaze Palsy With Progressive Scoliosis
• Facial Palsy
• Facial Paresis, Hereditary, Congenital
• Third Nerve Palsy
• Fourth Nerve Palsy
• Sixth Nerve Palsy
• Synkinesis
• Ocular Motility Disorders
• Levator-Medial Rectus Synkinesis
• Athabaskan Brainstem Dysgenesis
• Tongue Paralysis
• Ninth Nerve Disorder
• Fifth Nerve Palsy
• Seventh Nerve Palsy
• Eleventh Nerve Disorder
• Twelfth Nerve Disorder
• Vagus Nerve Paralysis
• Moebius Sequence

Timeline

• Start date: 2004-02-01
• Primary completion: 2030-01-01
• Completion: 2030-01-01
• First posted: 2017-02-23
• Last updated: 2026-02-11

Locations

1 site across 1 country: United States