An observational study in Strabismus and Nystagmus, Congenital, sponsored by Boston Children's Hospital. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2025-12-12.
Sponsored by Boston Children's Hospital · Observational
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.
142 studies on the registry are indexed under Strabismus; 31 are open to participants now.
This study's planned enrollment of 400 is above the median of 96 across 54 observational studies indexed under Strabismus.
Browse Strabismus studies →Boston Children's Hospital is the lead sponsor of 608 studies on the registry; 147 are open to participants now.
Of its 32 completed or terminated interventional studies of FDA-regulated products, 19 (59%) have results posted.
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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.
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- 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:
Whole genome sequencing or whole exome sequencing will be performed for all enrolled participants.
Genetic variants
genetic variants shared by family members with strabismus
Time frame: 2 years
Plan to share: Yes — De-identified genetic data will be deposited in dbGAP (database of genotypes and phenotypes) after publication.
Time frame: At time of publication
Access criteria: de-identified data will be available per dbGAP access policies.
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