Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
NCT ID: NCT02077894
Last Updated: 2025-12-18
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
1685 participants
OBSERVATIONAL
2014-08-05
2029-08-05
Brief Summary
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Study Population: We plan to recruit 1,685 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 returned to the participant in-person, secure videoconference, or by telephone.
Outcome Measures: This is an etiologic study that will generate molecular information about previously-recognized conditions for which participants did not have a molecular diagnosis, as well as molecular information for previously uncharacterized conditions involving the eye.
Detailed Description
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Study Population: We plan to recruit 1,685 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 returned to the participant in-person, secure videoconference, or by telephone.
Outcome Measures: This is an etiologic study that will generate molecular information about previously-recognized conditions for which participants did not have a molecular diagnosis, as well as molecular information for previously uncharacterized conditions involving the eye.
Conditions
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Keywords
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Study Design
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CASE_CONTROL
OTHER
Study Groups
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Affected participants
Participants with an eye disease.
No interventions assigned to this group
Unaffected family members
Unaffected family members.
No interventions assigned to this group
Eligibility Criteria
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Inclusion 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 legal guardian of participant understands and signs the informed consent document.
Exclusion Criteria
2. Participants who are minors are ineligible if they do not have a parent/legal guardian 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/legal guardians or legally authorized representatives 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.
1 Day
120 Years
ALL
No
Sponsors
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National Eye Institute (NEI)
NIH
Responsible Party
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Principal Investigators
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Bin Guan, Ph.D.
Role: PRINCIPAL_INVESTIGATOR
National Eye Institute (NEI)
Locations
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National Institutes of Health Clinical Center,
Bethesda, Maryland, United States
Countries
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Central Contacts
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Facility Contacts
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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Role: primary
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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14-EI-0064
Identifier Type: -
Identifier Source: secondary_id
140064
Identifier Type: -
Identifier Source: org_study_id