Genetics of Inherited Eye Disease
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|ClinicalTrials.gov Identifier: NCT02471287|
Recruitment Status : Recruiting
First Posted : June 15, 2015
Last Update Posted : December 17, 2019
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.
To learn more about genes involved in eye diseases.
People who have a known or suspected inherited eye disease, and their relatives.
- All participants will have a medical history, physical exam, and eye exam. They may 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 (Omega)-inch piece of skin will be removed.
- Participants may have blood drawn and the red blood cells removed. The remaining serum will be made into an eye drop solution for the participant.
- 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.
|Condition or disease|
|Genetic Eye Disease|
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.
One thousand two hundred and fifty (1250) individuals with inherited eye diseases and their relatives will be enrolled.
This is a combined evaluation/treatment protocol and a genetic repository study. In general, participants will undergo a complete, age-appropriate, baseline examination and provide a blood sample. Some participants may undergo more specialized ophthalmic and/or systemic testing, if felt clinically indicated by the investigator. In some cases, collection of readily available body fluids (e.g., urine, saliva) and/or a punch skin biopsy may also be performed for diagnostic and/or research purposes.
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).
|Study Type :||Observational|
|Estimated Enrollment :||1250 participants|
|Official Title:||The Genetics of Inherited Eye Disease|
|Actual Study Start Date :||June 22, 2015|
|Estimated Primary Completion Date :||September 1, 2022|
|Estimated Study Completion Date :||September 1, 2022|
Participants with eye disease
Unaffected first degree relatives
Unaffected first degree relatives of participants with a known or suspected inherited eyedisease.
- Establish Cohort [ Time Frame: Ongoing ]Establish an initial "critical mass" of participants and knowledge to develop disease- specific protocols for specific inherited eye conditions.
- Determine the genetic cause(s) and molecular pathogenesis [ Time Frame: ongoing ]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.
- Suggest best clinical outcome measures [ Time Frame: ongoing ]Suggesting the best clinical outcome measures to follow patients with various inherited eye diseases
- Provide a mechanism for collecting biological samples [ Time Frame: ongoing ]Provide a mechanism for collecting biological samples from well-phenotyped subjects for basic laboratory research
- Revealing systematic comorbidities [ Time Frame: ongoing ]Revealing systematic comorbidities that occur in patients with various inherited eye diseases
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02471287
|Contact: Daniel W Claus, R.N.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Wadih Zein, M.D.||National Eye Institute (NEI)|