What this study is
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.
What's being tested
- whole genome sequencing or whole exome sequencing
Intervention · GENETIC
Whole genome sequencing or whole exome sequencing will be performed for all enrolled participants.
Study details
- Sponsor
- Boston Children's Hospital
- Conditions
- Strabismus · Nystagmus, Congenital
- Enrolling
- 400 people
- Starts
- 2021-09-03
- Est. completion
- 2030-12
- Record
- View on ClinicalTrials.gov ↗
Who can join
Sex ALLHealthy volunteers Not acceptedYou 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). 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).
You can't join if
- Paralytic strabismus in affected family members
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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Study locations (1)
1 openBoston Children's Hospital
Boston, Massachusetts, United States
- Mary Whitman, MD/PhD · Contactmary.whitman@childrens.harvard.edu
Recruiting
Study team
Sponsor
Boston Children's Hospital
Study ID IRB-P00036313
Principal investigator
Mary Whitman, MD/PhD
Assistant Professor
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.