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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 : September 19, 2018
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )

Brief Summary:

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.


Condition or disease
Inherited Eye Disease

Detailed Description:

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 participants 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
Observational Model: Cohort
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Eye Diseases




Primary Outcome Measures :
  1. Statistically Significant Linkage or association [ Time Frame: Ongoing ]


Information from the National Library of Medicine

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Ages Eligible for Study:   4 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

To be eligible, the following inclusion criteria must be met, where applicable;

  1. Participant must be four years of age or older.
  2. Participant must understand and sign the protocol s informed consent document.
  3. Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related.
  4. All participants must be able to cooperate with study examination and phlebotomy.

EXCLUSION CRITERIA:

A participant is not eligible if any of the following exclusion criteria are present:

  1. Participant has a disease, infection, or trauma that mimic inherited cataracts, retinal degenerations, glaucoma, etc.
  2. Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections.
  3. Participant requires sedation for study procedures.

Information from the National Library of Medicine

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


Contacts
Contact: James F Hejtmancik, M.D. (301) 435-1598 f3h@helix.nih.gov

Locations
United States, California
University of California, San Diego Recruiting
La Jolla, California, United States, 92093-0603
Contact: Radha Ayyagari    Not Listed    rayyagari@ucsd.edu   
University of California, Los Angeles Recruiting
Los Angeles, California, United States, 90095
Contact: Michael Gorin    Not Listed    gorin@jsei.ucla.edu   
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    prpl@cc.nih.gov   
United States, North Carolina
Duke University Eye Center Recruiting
Durham, North Carolina, United States
Contact: Rand Allingham    Not Listed    allin002@mc.duke.edu   
China
Zhongshan Ophthalmic Center Recruiting
Guangzhou, China
India
Aravind Medical Research Foundation Recruiting
Madurai, India
Contact: Periasamy Sundaresan    Not Listed    sundar@aravind.org   
Iran, Islamic Republic of
Shahid Beheshti University of Medical Sciences Recruiting
Teheran, Iran, Islamic Republic of
Italy
Seconda Universita di Napoli Recruiting
Napoli, Italy
Contact: Francesca Simonelli    Not Listed    frantes@tin.it   
Pakistan
University of the Punjab Recruiting
Lahore, Pakistan
Philippines
University of the Philippines Recruiting
Manila, Philippines
Ukraine
The National Academy of Medical Sciences of Ukraine Recruiting
Odessa, Ukraine
Sponsors and Collaborators
National Eye Institute (NEI)
Investigators
Principal Investigator: James F Hejtmancik, M.D. National Eye Institute (NEI)

Additional Information:
Responsible Party: National Eye Institute (NEI)
ClinicalTrials.gov Identifier: NCT02771236     History of Changes
Other Study ID Numbers: 160104
16-EI-0104
First Posted: May 13, 2016    Key Record Dates
Last Update Posted: September 19, 2018
Last Verified: September 13, 2018

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
Inherited Eye Disease

Additional relevant MeSH terms:
Eye Diseases