Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Boston Children's Hospital
Study ID
NCT04770519
Status
Recruiting
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Conditions

  • Nystagmus, Congenital
  • Strabismus

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

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

Study Details

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.

Key Dates

Start date
Sep 3, 2021
Status verified
Dec 2025
Primary completion
Dec 31, 2030
Completion
Dec 31, 2030

Study Design

Enrollment
400 participants (estimated)

Primary Outcome Measure

Genetic variants [ Time Frame: 2 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Boston Children's HospitalBostonMassachusetts02115
Mary Whitman, MD/PhD
[email protected]

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By research site
Boston Children's Hospital· Boston, MA

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