Trial record 1 of 1 for:    NCT00378742
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Repository for Inherited Eye Diseases

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00378742
Recruitment Status : Active, not recruiting
First Posted : September 21, 2006
Last Update Posted : August 9, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )

Brief Summary:

This study will collect blood and DNA samples from patients with inherited eye diseases to be used in research to identify genetic factors responsible for these conditions. In recent years, nearly 500 genes that contribute to inherited eye diseases have been identified. Disease-causing mutations are associated with many eye diseases, including glaucoma, cataracts, strabismus, corneal dystrophies and a number of forms of retinal degenerations. As a result, gene-based therapies are being pursued to treat eye genetic diseases that were once considered untreatable.

The National Ophthalmic Genotyping Network (eyeGENE ) is creating a national tissue repository to further advance genetic research on inherited eye disease, while at the same time providing clinically-useful information back to patients and physicians who request it.. Physicians in collaborating institutions will recruit patients to participate in the study. Patients will provide a blood sample and undergo a standard eye examination. The blood sample and clinical information will then be sent to the NEI for testing, processing and storing in the tissue repository. Patients are given the option to receive results back and/or to be re-contacted in the event of future clinical studies. Information supplied to the testing laboratories includes a unique identification number, the patient gender, and the patient date of birth. The stored samples will be made available to researchers along with information about the patient's disease, but without patient identifiers.

Condition or disease
Retinitis Pigmentosa Inherited Ophthalmic Diseases

Detailed Description:
Molecular genetics has the potential to revolutionize the diagnosis and treatment of inherited eye diseases. Progress in research on inherited eye disease would be augmented by the availability of patient DNA coupled to robust, anonymous phenotypic information. The National Ophthalmic Genotyping and Phenotyping Network (eyeGENE ) has been created to answer this need. We propose the creation of a national DNA and blood repository for inherited eye disease. These samples will be gathered from clinical centers around the nation and will be coupled to anonymous, phenotypic descriptors. If requested, a portion of the sample submitted by a clinician will be used for appropriate, CLIA-certified molecular diagnostics that can be used in patient care. Once a sufficient repository is created, researchers will be able to request aliquots for their laboratory experiments. Participants will be provided the option to be re-contacted if an approved clinical study for which they might qualify is offered. Researchers will be able to request aliquots for their laboratory experiments or ask the eyeGENE Coordinating Center to re-contact participants to inform them about the possibility to participate in a clinical study

Study Type : Observational
Actual Enrollment : 6618 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: National Ophthalmic Genotyping and Phenotyping Network, Stage 1 - Creation of DNA Repository for Inherited Ophthalmic Diseases
Study Start Date : September 11, 2006

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

To participate in this protocol:

1a. The participant must present with characteristics that meet minimal clinical criteria established by eyeGENE, as determined by the referring clinician.


1b. The participant must be a relative of an affected participant if analysis would help with the interpretation of an affected participant's test results or to obtain some useful information as decided by the eyeGENE Research Study Group.

2. The participant must be willing and able to provide a suitable blood sample.


  • Severe systemic disease that compromise the ability of the referring clinician to obtain an adequate eye examination.
  • Any disease or condition that makes it unsafe for a subject to provide a blood sample of at least 5 ml for children and at least 15ml for adults.
  • Inability to cooperate with phlebotomy and clinical examination.
  • Those with impaired decision-making capability who do not have a legally-authorized representative.
  • If clinical criteria information, consent forms, or a blood sample can not be provided by the doctor or participant after one year of submitting a blood sample to eyeGENE .

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 identifier (NCT number): NCT00378742

  Hide Study Locations
United States, Alabama
University of Alabama
Birmingham, Alabama, United States
United States, California
University of California, Davis
Davis, California, United States, 95616
University of California, San Diego
La Jolla, California, United States, 92093-0603
University of Southern California/Doheny Eye Institute
Los Angeles, California, United States
Children's Hospital Research Center
Oakland, California, United States
Western University of Health Sciences
Pomona, California, United States, 91766
West Coast Retina Medical Group
San Francisco, California, United States, 94107
University of California, San Francisco
San Francisco, California, United States, 94143
Stanford California Vitreo-Retinal Center
Stanford, California, United States, 94305-5584
United States, Florida
Retina Vitreous Associates
Tampa, Florida, United States
United States, Illinois
Childrens Memorial Hospital, Chicago
Chicago, Illinois, United States, 60614-3394
Illinois Retina Center
Springfield, Illinois, United States
United States, Maryland
Wilmer Eye Institute
Baltimore, Maryland, United States
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
United States, Massachusetts
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, United States, 02114-3096
Childrens Hospital, Boston
Boston, Massachusetts, United States, 02115
Harvard University
Boston, Massachusetts, United States, 02115
University of Massachusetts
Worcester, Massachusetts, United States, 01655-0331
United States, Michigan
University of Michigan
Ann Arbor, Michigan, United States, 48109-0624
United States, Missouri
Washington University, St. Louis
Saint Louis, Missouri, United States, 63110
United States, New York
Columbia University
New York, New York, United States, 10032-3784
New York Eye Ear Infirmary
New York, New York, United States
United States, North Carolina
University of North Carolina
Chapel Hill, North Carolina, United States, 27599-7030
Duke Univ Health System
Durham, North Carolina, United States
United States, Ohio
Cleveland Clinic Foundation Childrens Hospital
Cleveland, Ohio, United States, 44195
Cole Eye Institute - Cleveland Clinic Foundation
Cleveland, Ohio, United States, 44195
United States, Oregon
Oregon Health Sciences University
Portland, Oregon, United States, 97201-3098
United States, Texas
University of Texas Southwestern Medical Center
Dallas, Texas, United States, 75390
Baylor College of Medicine
Houston, Texas, United States, 77030
University of Texas, Houston
Houston, Texas, United States, 77030
United States, Utah
University of Utah
Salt Lake City, Utah, United States, 84112
United States, Wisconsin
Medical College of Wisconsin
Milwaukee, Wisconsin, United States
Ivey Eye Institute
Ontario, Canada
Sponsors and Collaborators
National Eye Institute (NEI)
Principal Investigator: Brian P Brooks, M.D. National Eye Institute (NEI)

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: National Eye Institute (NEI) Identifier: NCT00378742     History of Changes
Other Study ID Numbers: 060236
First Posted: September 21, 2006    Key Record Dates
Last Update Posted: August 9, 2018
Last Verified: April 27, 2018

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
Phenotype-Genotype correlation
Molecular Diagnosis
Retinal Degeneration
Inherited Eye Disease
Retinitis Pigmentosa
Macular Dystrophy
Congenital Glaucoma

Additional relevant MeSH terms:
Eye Diseases
Retinitis Pigmentosa
Cone-Rod Dystrophies
Retinal Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn