Clinical and Molecular Studies in Families With Inherited Eye Disease
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|ClinicalTrials.gov Identifier: NCT02771236|
Recruitment Status : Recruiting
First Posted : May 13, 2016
Last Update Posted : August 9, 2018
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.
To try to identify the genes linked to the development of inherited eye diseases.
People ages 4 and older who have or have a family member with an inherited eye disease
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.
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.
|Condition or disease|
|Inherited Eye Disease|
Objective: This project, Clinical and Molecular Studies in Families with Inherited Eye Disease will study inherited eye diseases, both Mendelian and complex age related inherited eye diseases, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when mutated, cause inherited eye diseases and the pathophysiology through which they act. Among the diseases studied will be cataracts, corneal dystrophies and other corneal diseases, retinal degenerations, myopia and other anterior chamber defects, and glaucoma.
Study Population: Families and individuals of many nationalities and ethnic backgrounds. We will study a maximum of 5,000 patients and family members.
Design: The study consists of ascertaining individuals and especially families with multiple individuals, affected by both congenital and age related inherited eye diseases. These patients and their families will undergo detailed ophthalmological examinations to characterize their visual system and determine their affectation status. A blood sample will be collected from each individual for isolation of DNA and in some individuals for lymphoblastoid transformation to establish a renewable source of DNA. Linkage analysis, association analysis, physical mapping, and mutational screening will be carried out to identify the specific gene and the mutations in it that are associated with inherited eye disease in the family. Mutation screening may involve Sanger sequencing if a small number of candidate genes are identified, or whole genome or whole exome sequencing if more genes remain as viable candidates after the initial analysis. If necessary, the gene product will be characterized biochemically. The study will enroll participants at NEI and collaborating institutions.
Outcome Measures: Linkage will be determined using the lod score method, association will be determined using standard statistical procedures to estimate p values, and mutations in specific genes will be assessed using a combination of residue conservation, blosum score, bioinformatic prediction of structural damage to the protein, and molecular modeling. Assessment of biochemical, metabolic, and physiological effects of these mutations will be individualized to the specific case.
|Study Type :||Observational|
|Estimated Enrollment :||5000 participants|
|Official Title:||Clinical and Molecular Studies in Families With Inherited Eye Disease|
|Study Start Date :||May 12, 2016|
|Estimated Primary Completion Date :||February 1, 2026|
|Estimated Study Completion Date :||February 1, 2026|
- Statistically Significant Linkage or association [ Time Frame: Ongoing ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02771236
|Contact: James F Hejtmancik, M.D.||(301) email@example.com|
|United States, California|
|University of California, San Diego||Recruiting|
|La Jolla, California, United States, 92093-0603|
|Contact: Radha Ayyagari Not Listed firstname.lastname@example.org|
|University of California, Los Angeles||Recruiting|
|Los Angeles, California, United States, 90095|
|Contact: Michael Gorin Not Listed email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center||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|
|United States, North Carolina|
|Duke University Eye Center||Recruiting|
|Durham, North Carolina, United States|
|Contact: Rand Allingham Not Listed email@example.com|
|Zhongshan Ophthalmic Center||Recruiting|
|Aravind Medical Research Foundation||Recruiting|
|Contact: Periasamy Sundaresan Not Listed firstname.lastname@example.org|
|Iran, Islamic Republic of|
|Shahid Beheshti University of Medical Sciences||Recruiting|
|Teheran, Iran, Islamic Republic of|
|Seconda Universita di Napoli||Recruiting|
|Contact: Francesca Simonelli Not Listed email@example.com|
|University of the Punjab||Recruiting|
|The National Academy of Medical Sciences of Ukraine||Recruiting|
|Principal Investigator:||James F Hejtmancik, M.D.||National Eye Institute (NEI)|