Genetic analysis of eye movement disorders and related conditions
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
This study is trying to find out if certain genes are linked to eye movement disorders like strabismus and other related conditions in people with and without these issues.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 20000 (estimated) |
| Ages | 1 Day and up |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT03059420 on ClinicalTrials.gov |
What this trial studies
This observational study aims to identify genetic factors associated with congenital cranial dysinnervation disorders (CCDDs) and strabismus, which can lead to misalignment of the eyes. The Engle Lab has a decade-long focus on the genetics of eye movement and eyelid disorders, expanding their research to include individuals with additional anomalies linked to these conditions. Participants may include those with and without eye movement defects, allowing for a broader understanding of the genetic spectrum of these disorders.
Who should consider this trial
Good fit: Ideal candidates include individuals with congenital conditions affecting eye movement or cranial nerve function.
Not a fit: Patients with cranial nerve disorders linked to known genetic mutations or acquired conditions like trauma or stroke may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment options for patients with strabismus and related congenital disorders.
How similar studies have performed: Previous studies have shown success in identifying genetic factors in similar conditions, suggesting a promising avenue for this research.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Boston, Massachusetts
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Principal investigator: Elizabeth Engle, MD — Boston Children's Hospital
- Study coordinator: Brenda J Barry, MS
- Email: brenda.barry2@childrens.harvard.edu
- Phone: 617-919-2168
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.