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

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.

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Key information

Conditions

Congenital Fibrosis of Extraocular Muscles Abducens Nerve Diseases Abnormalities, Multiple Accessory Nerve Diseases Athabaskan Brainstem Dysgenesis Bell Palsy Brown Syndrome Central Nervous System Diseases Congenital Abnormalities Congenital Cranial Dysinnervation Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cranial Nerve Diseases DNA Virus Infections Duane Radial Ray Syndrome Duane Retraction Syndrome Dyskinesias Eleventh Nerve Disorder Eye Diseases Eye Diseases, Hereditary Facial Nerve Diseases Facial Palsy Facial Paralysis Facial Paresis, Hereditary, Congenital Fifth Nerve Palsy Fourth Nerve Palsy Genetic Diseases, Inborn Glossopharyngeal Nerve Diseases Herpesviridae Infections Horizontal Gaze Palsy Horizontal Gaze Palsy With Progressive Scoliosis Hypoglossal Nerve Diseases Infant, Newborn, Diseases Infections Levator-Medial Rectus Synkinesis Marcus Gunn Syndrome Marcus Gunn phenomenon Mobius Syndrome Moebius Sequence Mouth Diseases Nervous System Diseases Nervous System Malformations Neurologic Manifestations Ninth Nerve Disorder Ocular Motility Disorders Oculomotor Nerve Diseases Paralysis Pathological Conditions, Signs and Symptoms Seventh Nerve Palsy Signs and Symptoms Sixth Nerve Palsy Stomatognathic Diseases Strabismus Strabismus Congenital Synkinesis Third Nerve Palsy Tongue Paralysis Trochlear Nerve Diseases Twelfth Nerve Disorder Vagus Nerve Paralysis Virus Diseases congenital fibrosis of the extraocular muscles gaze palsy, familial horizontal, with progressive scoliosis

Age range

1 day and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location status: Recruiting

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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 criteria

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.

Treatment and study plan

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.

Time frame: 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Brenda J Barry, MS

CONTACT

[email protected]

617-919-2168

Engle Admin

CONTACT

[email protected]

617-919-4030

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Collaborators

Howard Hughes Medical Institute

Registry information

Important dates

Study start: 2004
Primary completion: 2030
Study completion: 2030
First posted: Feb 23, 2017
Registry last updated: Feb 11, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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