Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Status: Recruiting
Location: See location...
Intervention Type: Genetic
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• 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).

Locations
United States
Massachusetts
Boston Children's Hospital
RECRUITING
Boston
Contact Information
Primary
Tapiwa Muvavarirwa, BA
research.whitman@childrens.harvard.edu
857-292-3768
Time Frame
Start Date: 2021-09-03
Estimated Completion Date: 2026-12
Participants
Target number of participants: 400
Sponsors
Leads: Boston Children's Hospital
Collaborators: National Eye Institute (NEI)

This content was sourced from clinicaltrials.gov