Clinical and Molecular Studies in Families With Inherited Eye Disease
ConditionInherited Eye Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age4-120
SponsorNational Eye Institute (NEI)
About this trial
Background:
Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases.
Objective:
To try to identify the genes linked to the development of inherited eye diseases.
Eligibility:
People ages 4 and older who have or have a family member with an inherited eye disease
Design:
Participants will be screened with medical history and medical records.
Participants will have one visit that will take 3-4 hours. This will include:
Medical and family history
Eye exam: This includes the pupil being dilated.
Electroretinography: A small electrode is taped to the forehead. Participants sit in the
dark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in
the eyes. They will watch flashing lights.
Blood tests
Saliva sample: They will spit into a container or have the inside of their cheek swabbed.
Genetic testing will be done on participants blood or saliva.
Participants may meet with the researchers to discuss their genetic tests.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Participant must be four years of age or older.
Participant must understand and sign the protocol s informed consent document.
Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related.
All participants must be able to cooperate with study examination and phlebotomy.
Disqualifiers
Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc.
Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections.
Participant requires sedation for study purposes.
Trial population
Participants with inherited eye diseases.
Trial design
Design model
Cohort
Time perspective
Cross-sectional
Treatments tested in this trial
Not listed
Trial groups
5,000 Participants
are grouped into 5 trial groupsGroup A: Participants with cataracts
Group B: Participants with corneal dystrophies
Group C: Participants with glaucoma
Group D: Participants with lens refractive errors
Group E: Participants with retinal degenerations
Trial outcomes
Primary outcomes
1
Document the clinical and genetic features of Mendelian and age related visual disorders
Provide improved diagnosis and categorization of inherited visual disorders and should eventually suggest rationales for prevention or delay of both Mendelian and complex eye diseases
Time frame
Study durationSponsors and contacts
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Source ClinicalTrials.gov