Genetic analysis of eye misalignment and related disorders
Genetic Studies of Strabismus, Nystagmus, and Associated Disorders
This study is trying to find out if there are specific genes that cause eye misalignment and related disorders by looking at families who have multiple members affected by these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 400 (estimated) |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT04770519 on ClinicalTrials.gov |
What this trial studies
This observational study investigates the genetic factors associated with strabismus and nystagmus by enrolling families with multiple members affected by these conditions. Participants include families with at least three members with strabismus, individuals with infantile esotropia, and those with infantile nystagmus, along with their parents and siblings. The study employs whole exome and whole genome sequencing to identify shared genetic variants among affected family members, aiming to uncover the genetic causes of these eye disorders.
Who should consider this trial
Good fit: Ideal candidates include families with multiple members diagnosed with strabismus or individuals with infantile esotropia or nystagmus and their relatives.
Not a fit: Patients with paralytic strabismus will not benefit from this study as they are excluded from participation.
Why it matters
Potential benefit: If successful, this study could lead to a better understanding of the genetic basis of strabismus and nystagmus, potentially informing future treatments and interventions.
How similar studies have performed: Other studies have shown success in identifying genetic variants related to eye disorders, making this approach promising yet still requiring further exploration.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Boston, Massachusetts
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Principal investigator: Mary Whitman, MD/PhD — Assistant Professor
- Study coordinator: Kayleen Cremin, BA
- Email: research.whitman@childrens.harvard.edu
- Phone: 857-292-3768
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.