Genetics of Inherited Eye Disease
ConditionGenetic Eye Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-120
SponsorNational Eye Institute (NEI)
About this trial
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:
* All participants will have a medical history, physical exam, and eye exam. They will have blood taken. * Participants with an eye disease may have eye cell samples taken using a swab or biopsy procedure. * Participants may have a skin biopsy. A 3mm piece of skin will be removed. * Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek cells. * Participants may have a retina test. They may also have a test that uses light to measure retina thickness. * Participants may have an eye movement test. Electrodes will be placed on the skin next to both eyes. * Participants may have a fluorescein angiography. A dye will be given through an intravenous line in the arm. A camera will take pictures of the dye as it flows through the eyes blood vessels. * Participants may have microperimetry. They will sit at a computer screen and press a button when they see a light. * Participants may have an eye movement test. They will wear contact lenses or goggles and watch a series of spots on a computer screen. * Participants may complete a color vision test. * Participants will provide a specimen for genetic testing. * Participants may have a MRI. * Participants may complete questionnaires.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Have a known or suspected inherited eye disease OR are an unaffected (usually first degree) relative of a participant with a known or suspected inherited eye disease.
Have the ability to cooperate with an age-appropriate eye exam.
Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity. Unaffected adult relatives of a participant should be able
Disqualifiers
They are unwilling or unable to be followed as clinically indicated.
They have a clear, non-genetic disease etiology (unless they are an unaffected relative).
Their participation would not contribute to the NEI research mission, at the discretion of the PI.
They have metal in their body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if they were a welder or metal worker, since they may small metal fragments in the eye.
Trial population
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.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
1,500 Participants
are grouped into 2 trial groupsGroup A: Affected Participants
Group B: Healthy volunteers
Trial outcomes
Primary outcomes
1
Establish cohort
Establish an initial "critical mass" of participants and knowledge to develop disease-specific protocols for specific inherited eye conditions.
Time frame
OngoingSecondary outcomes
1
Suggest best clinical outcome measures
Suggesting the best clinical outcome measures to follow patients with various inherited eye diseases
Time frame
ongoing2
Revealing systematic comorbidities
Revealing systemic comorbidities that occur in patients with various inherited eye diseases.
Time frame
ongoing3
Provide a mechanism for collecting biological samples
Provide a mechanism for collecting biological samples from well-phenotyped subjects for basic laboratory research
Time frame
ongoing4
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
ongoingSponsors and contacts
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Source ClinicalTrials.gov