Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Recruiting now

Conditions studied: Strabismus, Nystagmus, Congenital

In brief

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.

Key facts

Study ID

NCT04770519

Run by

Boston Children's Hospital

People needed

400

Starts

2021-09-03

Expected to finish

2030-12-01

Last updated by the study team

2025-12-12

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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).

You may not qualify if…

• paralytic strabismus in affected family members

Where it is running

• Boston Children's Hospital — Boston, Massachusetts, United States (enrolling)

Full record on ClinicalTrials.gov

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