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Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
NCT02077894 · View on ClinicalTrials.gov ↗
Study Summary
Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing (referred to as exome sequencing and genome sequencing in the remainder of the document). This includes identifying mutations in known genes or novel genes for recognized conditions, as well as identifying mutations in novel genes for previously uncharacterized genetic conditions involving the eye. Study Population: We plan to recruit 2,000 participants, to include both participants with an eye condition under study and unaffected family members. Ideally unaffected family members will be parents of an affected participant. Design: Participants will be self-referred or referred by an outside clinician. They will preferably be evaluated at the National Institutes of Health (NIH), but the option to participate offsite will be offered. Participants evaluated onsite will be recruited through other pre-existing NIH protocols, such as the National Eye Institute (NEI) Screening protocol (08-EI-0102), the NEI Ocular Natural History protocol (16-EI-0134), the Genetics of Inherited Eye Disease protocol (15-EI-0128), and the Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC) protocol (13-EI-0049). Offsite participants will be screened via phone or secure videoconference, and records will be requested for evaluation of affected participants. Both affected and unaffected eligible participants will undergo genetic counseling and will provide a blood sample and/or saliva sample for exome or genome sequencing. Biological relationships will be confirmed prior to exome or genome sequencing. Sequence data will be analyzed for primary variants and secondary findings, unless participants choose to opt-out of secondary analysis and reporting. All sequence variants deemed clinically relevant will be validated in a Clinical Laboratory Improvement Amendment (CLIA)-certified laboratory and the results will be returne
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center, — Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 2,000 participants |
| Start Date | 2014-08-05 |
| Est. Completion | 2029-08-05 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT02077894
The ClinicalTrials.gov registry entry for NCT02077894 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 2,000 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Eye Institute (NEI), which has 214 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with Genetic Eye Disease appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT02077894 reports 1 study location spanning 1 distinct geographic area — top geographies include Maryland. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT02077894 about?
NCT02077894 is a clinical study titled "Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions". Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing (referred to as exome sequencing and genome sequencing in the remainder of the document). This includes identifying mutations in known genes or novel genes ...
What is the current status of trial NCT02077894?
This trial is currently recruiting. The enrollment target is 2,000 participants. The study started on 2014-08-05. Estimated completion is 2029-08-05.
What conditions does trial NCT02077894 study?
This clinical trial studies the following conditions: Genetic Eye Disease. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT02077894?
This trial is sponsored by National Eye Institute (NEI), which has 214 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT02077894 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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