Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

NCT ID: NCT04770519

Last Updated: 2025-12-12

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

400 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-09-03

Study Completion Date

2030-12-31

Brief Summary

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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.

Detailed Description

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Conditions

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Strabismus Nystagmus, Congenital

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

RETROSPECTIVE

Interventions

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whole genome sequencing or whole exome sequencing

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

Intervention Type GENETIC

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Boston Children's Hospital

OTHER

Sponsor Role lead

National Eye Institute (NEI)

NIH

Sponsor Role collaborator

Responsible Party

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Mary Whitman

Associate Professor of Ophthalmology

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Mary Whitman, MD/PhD

Role: PRINCIPAL_INVESTIGATOR

Assistant Professor

Locations

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Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Kayleen Cremin, BA

Role: CONTACT

857-292-3768

Facility Contacts

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Mary Whitman, MD/PhD

Role: primary

Other Identifiers

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R01EY032539

Identifier Type: NIH

Identifier Source: secondary_id

View Link

IRB-P00036313

Identifier Type: -

Identifier Source: org_study_id

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