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NCT03059420

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

Recruiting
Not specifiedAges 1+Observational
Boston Children's Hospital
~20,000 participants
Updated 2026-02-11 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
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.
Measured over Ongoing

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

Explore related trials

Abducens Nerve ParalysisAccessory Nerve DisorderAthabaskan brainstem dysgenesis syndromeBrown's tendon sheath syndromeCongenital fibrosis syndromeDisorder of eye movementsDuane-radial ray syndromeDuane SyndromeFacial Nerve ParalysisGlossopharyngeal Nerve DisorderHorizontal gaze palsyHorizontal gaze palsy with progressive scoliosisHypoglossal Nerve DisorderJaw-winking syndromeMobius SyndromeOculomotor Nerve ParalysisParalysis of tongueSeventh Nerve PalsyStrabismusSynkinesisTrigeminal Nerve ParalysisTrochlear Nerve ParalysisVagus Nerve Paralysis

Where it's being run

1 sites across 1 states
Massachusetts1

Study leadership

  • Elizabeth Engle, MD · PRINCIPAL_INVESTIGATOR · Boston Children's Hospital

Who to contact

Brenda J Barry, MS
[email protected]
617-919-2168
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Eligibility criteria

Inclusion

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).

Exclusion

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.

What this trial measures

  • 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.Ongoing

    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.