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

Recruiting now

Conditions studied: 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

In brief

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.

Key facts

Study ID

NCT03059420

Run by

Boston Children's Hospital

People needed

20000

Starts

2004-02-01

Expected to finish

2030-01-01

Last updated by the study team

2026-02-11

Who can join

Age: 0 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• The Engle Lab is very interested in enrolling individuals with congenital conditions related to eye movement, cranial nerve and brainstem-based dysfunction, often broadly referred to as congenital cranial dysinnervation disorders (CCDDs).

You may not qualify if…

• Individuals with cranial nerve disorders associated with known disorders, such as Saethre-Chotzen associated with established genetic mutations, or acquired conditions including trauma, stroke, tumor or spinal cord injuries.

Where it is running

• Boston Children's Hospital — Boston, Massachusetts, United States (enrolling)

Full record on ClinicalTrials.gov

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