Actively Recruiting
Genetic Studies of Strabismus, Nystagmus, and Associated Disorders
Led by Boston Children's Hospital · Updated on 2025-12-12
400
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
B
Boston Children's Hospital
Lead Sponsor
N
National Eye Institute (NEI)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying genetic factors linked to strabismus, a condition where the eyes are misaligned, and congenital nystagmus, an eye movement disorder. The study focuses on families with multiple members affected by these conditions to better understand their genetic causes. The research is observational and aims to identify specific genetic variants that contribute to these eye disorders. Participants include three groups: families with at least three members who have strabismus, families with at least one member with infantile esotropia, and families with at least one member with infantile nystagmus. Both affected and unaffected family members will be enrolled. The study involves performing whole genome or whole exome sequencing on all participants to detect genetic variants shared among affected relatives. During the study, participants will provide genetic samples for sequencing. Researchers will analyze the genetic data to identify variants associated with strabismus and nystagmus over a two-year period. The study does not involve treatment but focuses on collecting and studying genetic information to enhance understanding of these conditions. Participation duration and follow-up depend on the sequencing and analysis timeline.
CONDITIONS
Brief Title
Genetic Studies of Strabismus, Nystagmus, and Associated Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Member of a family with at least 3 biological relatives with strabismus (both affected and non-affected members can join).
- Member of a family with at least 1 individual with infantile esotropia (both affected and non-affected members can join).
- Member of a family with at least 1 individual with infantile nystagmus (both affected and non-affected members can join).
You will not qualify if you...
- Paralytic strabismus in affected family members.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 2 years
Participants provide samples for whole genome or whole exome sequencing to identify genetic variants associated with strabismus, nystagmus, and related disorders.
1 visit (in-person)
Duration - Up to 2 years
Participants are observed over time to assess genetic findings and related outcomes.
Periodic assessments may occur depending on family and genetic findings
Trial Site Locations
Total: 1 location
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
Research Team
K
Kayleen Cremin, BA
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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