Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Boston Children's Hospital1 site in 1 country400 target enrollmentSeptember 3, 2021

ConditionsStrabismus Nystagmus, Congenital

Overview

Phase: Not Applicable
Intervention: Not specified
Conditions: Strabismus
Sponsor: Boston Children's Hospital
Enrollment: 400
Locations: 1
Primary Endpoint: Genetic variants
Status: Recruiting
Last Updated: 4 months ago

Overview Investigators Eligibility Criteria Outcomes Sites Similar Trials

Overview

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.

Registry

clinicaltrials.gov

Start Date

September 3, 2021

End Date

December 1, 2030

Last Updated

4 months ago

Study Type

Observational

Sex

All

Investigators

Sponsor

Boston Children's Hospital

Responsible Party

Principal Investigator

Mary Whitman

Associate Professor of Ophthalmology

Boston Children's Hospital

Eligibility Criteria

Inclusion Criteria

•\- Member of a family with at least 3 biological relatives with strabismus. (Both affected and non-affected family members will be enrolled).
•\- Member of a family with at least 1 individual with infantile esotropia. (Both affected and non-affected family members will be enrolled).
•\- Member of a family with at least 1 individual with infantile nystagmus. (Both affected and non-affected family members will be enrolled).