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NCT Number: NCT04770519

Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

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.

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Key information

Conditions

Strabismus Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cranial Nerve Diseases Esotropia Exotropia Eye Diseases Infant, Newborn, Diseases Nervous System Diseases Nystagmus, Congenital Nystagmus, Pathologic Ocular Motility Disorders

Sex eligibility

All sexes

Study type

Observational

Primary location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location status: Recruiting

Location contact

Mary Whitman, MD/PhD

CONTACT

[email protected]

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

whole genome sequencing or whole exome sequencing

Genetic

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

Primary outcomes

  1. Genetic variants

    Time frame: 2 years

    genetic variants shared by family members with strabismus

Study contacts

Contact information is provided by the study sponsor or research team.

Kayleen Cremin, BA

CONTACT

[email protected]

857-292-3768

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Collaborators

  • National Eye Institute (NEI)

Registry information

Important dates

Study start
2021
Primary completion
2030
Study completion
2030
First posted
Feb 25, 2021
Registry last updated
Dec 12, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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