Genetic Studies of Strabismus, Nystagmus, and Associated Disorders
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: whole genome sequencing or whole exome sequencing.
- Who it may be relevant to
- Registry conditions: Strabismus, Nystagmus, Congenital. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- Genetic whole genome sequencing or whole exome sequencing
Whole genome sequencing or whole exome sequencing will be performed for all enrolled participants.
Primary outcome measures
- Genetic variants [Time frame: 2 years]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Family-based
Study locations
United States · 1 center
- Boston Children's Hospital — Boston
Identifiers
NCT: NCT04770519 · IRB-P00036313 · R01EY032539