An observational study in Genetic Eye Disease, sponsored by National Eye Institute (NEI). Recruiting at 1 site in United States. Open to participants aged 1 Year to 120 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-11-09.
Sponsored by National Eye Institute (NEI) · Observational
Background:
Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes. They also hope to learn more about how symptoms differ in people with similar gene changes.
Objective:
To learn more about genes involved in eye diseases.
Eligibility:
People who have a known or suspected inherited eye disease, and their relatives.
Design:
OBJECTIVE:
Molecular genetics and genomics are revolutionizing the delivery of medicine in general and ophthalmology in particular. New treatment and prevention strategies rely on a detailed understanding of the genetics and molecular pathogenesis of vision-threatening disease. In addition, in order to determine whether an intervention is therapeutic, we must first have some understanding of what the best clinical outcome variables are for measuring a treatment effect. Because our ultimate goal is to develop disease-specific protocols for specific inherited conditions, establishing this protocol will help us establish an initial critical mass of patients and of knowledge to write such protocols; as such, this protocol will be hypothesis generating. A secondary aim of this protocol is to provide a mechanism for obtaining research samples from subjects that may be used for laboratory investigations; in this case, the basic research may be both hypothesis generating and/or hypothesis testing. Lastly, the Ophthalmic Genetics Branch, as a leader in the field and a sponsor of a clinical training program, should have the ability to serve as a tertiary referral center for the nation in the area of undiagnosed genetic eye diseases.
STUDY POPULATION:
One thousand one hundred (1100) individuals with inherited eye diseases and 400 healthy volunteers (the unaffected relatives of affected participants) will be enrolled.
DESIGN:
This is a combined evaluation/treatment protocol and a genetic repository study. In general, participants will undergo a complete, age-appropriate, baseline examination and may provide a blood or saliva sample. Some participants may undergo more specialized ophthalmic and/or systemic testing, if clinically indicated by the investigator. Data and specimens generated through clinical care procedures may be collected and analyzed. The data and images obtained from these tests may be used for determining eligibility into another NEI protocol. Additionally, the collection of these data will help meet the primary research objectives of this study. Participants may be asked to complete optional participant reported outcome (PRO) questionnaires which will be assigned based on current diagnosis and previous testing. In a small number of cases, collection of blood, readily available biospecimens and body fluids (e.g., urine, saliva, tear fluid, stool, hair or cheek swab samples), conjunctival swab or lacrimal gland biopsy, impression cytology, and/or a punch skin biopsy may also be performed for research purposes.
OUTCOME MEASURES:
Given the breadth of ages and disease processes covered under this protocol, we will not systematically obtain any single outcome variable beyond visual acuity on research subjects. However, detailed, disease-specific findings will be collected through the NEI electronic medical record. Findings from systemic testing and from outside exams may be tabulated in a separate, secure database in the laboratory of the Principal Investigator (PI).
National Eye Institute (NEI) is the lead sponsor of 272 studies on the registry; 17 are open to participants now.
Of its 8 completed or terminated interventional studies of FDA-regulated products, 8 (100%) have results posted.
Counted across the registry records on this site, refreshed daily.
A total of 1500 participants may be enrolled into this study. One thousand one-hundred (1,100) participants with known or suspected eye diseases and 400 healthy volunteers (unaffected relatives of affected participants) will be accrued for this study. Self-referral is permitted and participants may enroll as a referral from another NEI study.
Participants will be eligible if they:
to provide consent.
EXCLUSION CRITERIA:
Participants will not be eligible if:
Exclusion Criteria for MRI (if applicable)
Participants will not be eligible for optional MRI procedure if:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Participants with eye disease
Unaffected first degree relatives of participants with a known or suspected inherited eye disease.
Establish cohort
Establish an initial "critical mass" of participants and knowledge to develop disease-specific protocols for specific inherited eye conditions.
Time frame: Ongoing
Suggest best clinical outcome measures
Suggesting the best clinical outcome measures to follow patients with various inherited eye diseases
Time frame: ongoing
Revealing systematic comorbidities
Revealing systemic comorbidities that occur in patients with various inherited eye diseases.
Time frame: ongoing
Provide a mechanism for collecting biological samples
Provide a mechanism for collecting biological samples from well-phenotyped subjects for basic laboratory research
Time frame: ongoing
Determine the genetic cause(s) and molecular pathogenesis
Determine the genetic causes(s) and molecular pathogenesis of a known or suspected inherited disorder of vision in an individual patient and his/her family.
Time frame: ongoing
Plan to share: Undecided
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