Genetic Studies of Strabismus, Nystagmus, and Associated Disorders
Recruiting
- Conditions
- StrabismusNystagmus, Congenital
- Registration Number
- NCT04770519
- Lead Sponsor
- Boston Children's Hospital
- Brief Summary
Strabismus (misalignment of the eyes) often runs in families. In this study, the investigators are looking for genetic variants associated with strabismus and nystagmus. Three types of subects will be enrolled: (1) Families with at least 3 members with strabismus, (2) individuals with infantile esotropia and their parents and siblings, and (3) individuals with infantile nystagmus and their parents. Whole exome and/or whole genome sequencing will be used to identify genetic variants shared by family members with strabismus and to identify genetic causes of nystagmus.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 400
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
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Genetic variants 2 years genetic variants shared by family members with strabismus
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Boston Children's Hospital
🇺🇸Boston, Massachusetts, United States