Genetic analysis of eye movement disorders and related conditions

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.