Understanding genetic causes of inherited eye diseases
Clinical and Molecular Studies in Families With Inherited Eye Disease
This study is trying to find out the genetic reasons behind inherited eye diseases by looking at families with affected members and testing participants aged four and older.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Ages | 4 Years to 120 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 10 sites (La Jolla, California and 9 other locations) |
| Trial ID | NCT02771236 on ClinicalTrials.gov |
What this trial studies
This study aims to identify the genetic factors linked to inherited eye diseases by examining families with affected individuals. Participants aged four and older will undergo a comprehensive evaluation, including medical history, eye exams, and genetic testing through blood and saliva samples. The research will focus on various inherited eye conditions, such as cataracts and glaucoma, to better understand their genetic underpinnings. The study will involve up to 5,000 participants from diverse backgrounds to ensure a broad understanding of these conditions.
Who should consider this trial
Good fit: Ideal candidates include individuals aged four and older who have an inherited eye disease or have a family member with such a condition.
Not a fit: Patients with diseases or conditions that mimic inherited eye diseases may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with inherited eye diseases.
How similar studies have performed: Other studies have shown success in identifying genetic causes of inherited diseases, suggesting a promising approach for this research.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: To be eligible, the following inclusion criteria must be met, where applicable; 1. Participant must be four years of age or older. 2. Participant must understand and sign the protocol s informed consent document. 3. Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related. 4. All participants must be able to cooperate with study examination and phlebotomy. EXCLUSION CRITERIA: A participant is not eligible if any of the following exclusion criteria are present: 1. Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc. 2. Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections. 3. Participant requires sedation for study purposes.
Where this trial is running
La Jolla, California and 9 other locations
- University of California, San Diego — La Jolla, California, United States (Recruiting)
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
- Duke University Eye Center — Durham, North Carolina, United States (Withdrawn)
- Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat Sen University — Guangzhou, China (Recruiting)
- Aravind Medical Research Foundation — Madurai, India (Withdrawn)
- Seconda Universita di Napoli — Naples, Italy (Withdrawn)
- National Centre of Excellence in Molecular Biology, University of the Punjab — Lahore, Pakistan (Recruiting)
- University of the Philippines — Manila, Philippines (Recruiting)
- The Filatov Institute of Eye Disease and Tissue Therapy of the National Academy — Odesa, Ukraine (Recruiting)
- University of Exeter — Exeter, United Kingdom (Recruiting)
Study contacts
- Principal investigator: James F Hejtmancik, M.D. — National Eye Institute (NEI)
- Study coordinator: James F Hejtmancik, M.D.
- Email: f3h@helix.nih.gov
- Phone: (301) 435-1598
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.