Recruiting

Genetic Studies

Sponsor:

Boston Children's Hospital

Code:

NCT04770519

Conditions

Strabismus

Nystagmus, Congenital

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

whole genome sequencing or whole exome sequencing

Study Details

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.

Conditions

Strabismus

Nystagmus, Congenital

Study ID

NCT04770519

Start date

Sep 3, 2021

Status verified date

Dec, 2025

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

\- 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).

Exclusion Criteria:

  • paralytic strabismus in affected family members

Study Design

Enrollment

400 participants

Anticipated

Interventions and Outcome Measures

Interventions

whole genome sequencing or whole exome sequencing

Whole genome sequencing or whole exome sequencing will be performed for all enrolled participants.

Primary outcome measure

  • Genetic variants [ Time Frame: 2 years ]

Central Contacts and Locations

Central contacts

Kayleen Cremin, BA

857-292-3768research.whitman@childrens.harvard.edu

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Mary Whitman, MD/PhD

mary.whitman@childrens.harvard.edu

More Information

Sponsor

Boston Children's Hospital

Last update posted

Dec 12, 2025

Last verified

Dec, 2025

Keywords

  • strabismus
  • esotropia
  • exotropia
  • nystagmus

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Boston Children's Hospital on 2025-12-12.