Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Last updated: May 17, 2024
Sponsor: Boston Children's Hospital
Overall Status: Active - Recruiting

Phase

N/A

Condition

Vision Loss

Williams Syndrome

Eye Disorders/infections

Treatment

whole genome sequencing or whole exome sequencing

Clinical Study ID

NCT04770519
IRB-P00036313
R01EY032539
  • All Genders

Study 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 Criteria

Inclusion

Inclusion Criteria:

  • Member of a family with at least 3 biological relatives with strabismus. (Bothaffected and non-affected family members will be enrolled).

OR

  • Member of a family with at least 1 individual with infantile esotropia. (Bothaffected and non-affected family members will be enrolled).

OR

  • Member of a family with at least 1 individual with infantile nystagmus. (Bothaffected and non-affected family members will be enrolled).

Exclusion

Exclusion Criteria:

  • paralytic strabismus in affected family members

Study Design

Total Participants: 400
Treatment Group(s): 1
Primary Treatment: whole genome sequencing or whole exome sequencing
Phase:
Study Start date:
September 03, 2021
Estimated Completion Date:
December 31, 2026

Connect with a study center

  • Boston Children's Hospital

    Boston, Massachusetts 02115
    United States

    Active - Recruiting

Not the study for you?

Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.