Identifying genetic causes of inherited eye conditions using advanced sequencing techniques
Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
This study is trying to find the genetic causes of inherited eye conditions by testing the DNA of people with these conditions and their family members.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2000 (estimated) |
| Ages | 1 Day to 120 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT02077894 on ClinicalTrials.gov |
What this trial studies
This study aims to uncover the genetic underpinnings of inherited eye diseases through whole exome and whole genome sequencing. It will involve recruiting approximately 1,685 participants, including individuals with eye conditions and their unaffected family members, primarily parents. Participants will be evaluated at the National Institutes of Health (NIH) or through remote consultations, where they will undergo genetic counseling and provide biological samples for analysis. The goal is to identify mutations in known and novel genes associated with various genetic eye conditions.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with inherited eye conditions and their unaffected family members who can provide genetic insights.
Not a fit: Patients with eye conditions that are not genetic in nature or those unable to comply with study procedures may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and potential treatments for genetic eye diseases.
How similar studies have performed: Previous studies utilizing whole genome sequencing for genetic conditions have shown promising results, indicating potential success for this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: To be eligible, participants must meet the following criteria: 1. Participant is affected with an eye condition under study or is a family member of an affected individual who will be informative for ES/GS analysis and interpretation. 2. Participant or legally authorized representative (LAR) of participant understands and signs the informed consent document. EXCLUSION CRITERIA: 1. Participants who cannot comply with study procedures are ineligible. 2. Participants who are minors are ineligible if they do not have a parent/LAR who can consent and make decisions on their behalf. Participants who are or become decisionally impaired are ineligible if they do not have, or are unable to obtain, a legally authorized representative who can consent and make decisions on their behalf. 3. Participants who are minors and under joint custody are ineligible if parents disagree about study participation. 4. Prospective participants or their parent/LAR who, based on the judgment of the team, appear to have impaired ability to understand and appropriately use complex medical and genetic information, or to cope with potentially life altering medical information, will be ineligible.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center, — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Bin Guan, Ph.D. — National Eye Institute (NEI)
- Study coordinator: Delphine M Blain, CGC
- Email: delphine.blain@nih.gov
- Phone: (301) 496-1410
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.