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

This trial accepts healthy volunteers

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 population

Individuals diagnosed with strabismus, congenital ocular motility disorders, cranial nerve dysfunction, brainstem disorders and other associated anomalies, as well as their similarly affected or unaffected family members. Unaffected individuals are enrolled only if a relative is diagnosed with one of these conditions at least one affected family members is enrolled.

Trial design

Design model

Cohort

Time perspective

Other

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Trial outcomes

Primary outcomes

Identifying and characterizing genes important in normal development and function of the ocular motility system, cranial nerves and brainstem and associated with congenital cranial dysinnervation disorders and related anomalies.

This is an observational, descriptive study with no interventions geared towards identifying novel genes and characterizing their function, expression and impact on human cranial nerve development and disease. As genes previously undescribed in the human population are identified and characterized, reports regarding these details will be written and published but such timelines are impossible to predict. Also, as new information on previously identified genes is gathered generated, additional reports will be issued through scientific publications. As long as funding is available, the work will proceed in a rolling, ongoing timeline.

Time frame

Ongoing

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Boston Children's Hospital

Lead sponsor

Howard Hughes Medical Institute

Collaborator

Source ClinicalTrials.gov

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