NCT04770519

Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 400 (estimated)
• Sponsor: Boston Children's Hospital · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Strabismus
• Nystagmus, Congenital

Interventions

Type	Name	Description
GENETIC	whole genome sequencing or whole exome sequencing	Whole genome sequencing or whole exome sequencing will be performed for all enrolled participants.

Timeline

• Start date: 2021-09-03
• Primary completion: 2030-12-01
• Completion: 2030-12-01
• First posted: 2021-02-25
• Last updated: 2025-12-12

Locations

1 site across 1 country: United States