Genetic analysis of eye misalignment and related disorders

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 investigates the genetic factors associated with strabismus and nystagmus by enrolling families with multiple members affected by these conditions. Participants include families with at least three members with strabismus, individuals with infantile esotropia, and those with infantile nystagmus, along with their parents and siblings. The study employs whole exome and whole genome sequencing to identify shared genetic variants among affected family members, aiming to uncover the genetic causes of these eye disorders.

Why it matters

Who can join: the full rules

Inclusion Criteria:

\- Member of a family with at least 3 biological relatives with strabismus. (Both affected and non-affected family members will be enrolled).

OR

\- Member of a family with at least 1 individual with infantile esotropia. (Both affected and non-affected family members will be enrolled).

OR

\- Member of a family with at least 1 individual with infantile nystagmus. (Both affected and non-affected family members will be enrolled).

Exclusion Criteria:

* paralytic strabismus in affected family members

Where it's running

• Boston Children's Hospital
  Boston, Massachusetts, United States Recruiting

Study contacts

• Principal investigator: Mary Whitman, MD/PhD — Assistant Professor
• Study coordinator: Kayleen Cremin, BA
• Email: research.whitman@childrens.harvard.edu
• Phone: 857-292-3768

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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.