Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

NCT04770519 | Recruiting

• 2 other identifiers: IRB-P00036313R01EY032539
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

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

Keywords

strabismus; esotropia; exotropia; nystagmus

Outcome Measures

Primary Outcomes (1)

• Genetic variants

  genetic variants shared by family members with strabismus

  2 years

Interventions

whole genome sequencing or whole exome sequencing GENETIC

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All willing members of families in which 3 or more biological relatives have strabismus (esotropia, exotropia, or vertical misalignments) with full eye movements, or affected individual has infantile esotropia or infantile nystagmus.

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

Sponsors & Collaborators

• Boston Children's Hospital: lead
• National Eye Institute (NEI): collaborator

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

DNA

MeSH Terms

Conditions

Strabismus; Nystagmus, Congenital; Esotropia; Exotropia; Nystagmus, Pathologic

Interventions

Whole Genome Sequencing; Exome Sequencing

Condition Hierarchy (Ancestors)

Ocular Motility Disorders; Cranial Nerve Diseases; Nervous System Diseases; Eye Diseases; Infant, Newborn, Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Mary Whitman, MD/PhD

  Assistant Professor

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Kayleen Cremin, BA

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Ophthalmology

Study Record Dates

• First Submitted: February 23, 2021
• First Posted: February 25, 2021
• Study Start: September 3, 2021
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: December 12, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will share
• Time Frame: At time of publication
• Access Criteria: de-identified data will be available per dbGAP access policies.

Locations

US (1)