Understanding genetic causes of inherited eye diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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 it's running

• University of California, San Diego
  La Jolla, California, United States Recruiting
• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting
• Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat Sen University
  Guangzhou, China Recruiting
• University of the Philippines
  Manila, Philippines Recruiting
• The Filatov Institute of Eye Disease and Tissue Therapy of the National Academy
  Odesa, Ukraine Recruiting
• Duke University Eye Center
  Durham, North Carolina, United States Withdrawn

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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.