This study is currently recruiting participants.
Number
14-EI-0064
Sponsoring Institute
National Eye Institute (NEI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 days Max Age: 120 Years
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Whole Genome Sequencing; Genetic Eye Disease; Natural History
Recruitment Keyword(s)
Condition(s)
Genetic Eye Disease
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Eye Institute
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: Most affected participants will be recruited from existing studies at the NEI. These include, but are not limited to, the 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) study (13-EI-0049). Unaffected family members will be invited to participate once an affected relative is determined eligible for participation. Offsite affected and unaffected participants will also be enrolled. If a participant is self-referred or referred to the study by an outside provider, screening will determine whether participation is offered.
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 may 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 CLIA-certified laboratory and the results will be returned to the participant in-person, secure video conference, 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.
--Back to Top--
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 1. Participants who cannot comply with study procedures are ineligible. 2. Participants who are minors or participants who are adults and are decisionally impaired are ineligible if they do not have a legal guardian who can consent and make decisions on their behalf. Documentation of legal guardianship must be provided for decisionally impaired adults. 3. Participants who are minors and under joint custody are ineligible if parents are in disagreement about study participation. 4. Prospective participants or their legal guardians 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. 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
1. Participants who cannot comply with study procedures are ineligible.
2. Participants who are minors or participants who are adults and are decisionally impaired are ineligible if they do not have a legal guardian who can consent and make decisions on their behalf. Documentation of legal guardianship must be provided for decisionally impaired adults.
3. Participants who are minors and under joint custody are ineligible if parents are in disagreement about study participation.
4. Prospective participants or their legal guardians 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.
Principal Investigator
Referral Contact
For more information: