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

ConditionsCongenital 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

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age1+

SponsorBoston Children's Hospital

About this trial

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.

Eligibility criteria

Qualifiers

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).

Disqualifiers

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.

Trial design

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Sponsors and collaborators

Boston Children's Hospital

Lead sponsor

Howard Hughes Medical Institute

Collaborator

Source ClinicalTrials.gov