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

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2015 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ) Identifier:
First received: September 20, 2006
Last updated: October 23, 2015
Last verified: May 2015

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.

Retinitis Pigmentosa
Inherited Ophthalmic Diseases

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: National Ophthalmic Genotyping and Phenotyping Network, Stage 1 - Creation of DNA Repository for Inherited Ophthalmic Diseases

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 10000
Study Start Date: September 2006
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

Ages Eligible for Study:   2 Years and older
Genders Eligible for Study:   Both
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 .
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00378742

Contact: Brian P Brooks, M.D. (301) 496-3577

  Hide Study Locations
United States, Alabama
University of Alabama Recruiting
Birmingham, Alabama, United States
United States, California
University of California, Davis Recruiting
Davis, California, United States, 95616
University of California, San Diego Recruiting
La Jolla, California, United States, 92093-0603
University of Southern California/Doheny Eye Institute Recruiting
Los Angeles, California, United States
Children's Hospital Research Center Recruiting
Oakland, California, United States
Western University of Health Sciences Recruiting
Pomona, California, United States, 91766
University of California, San Francisco Recruiting
San Francisco, California, United States, 94143
West Coast Retina Medical Group Recruiting
San Francisco, California, United States, 94107
Stanford California Vitreo-Retinal Center Recruiting
Stanford, California, United States, 94305-5584
United States, Florida
Retina Vitreous Associates Recruiting
Tampa, Florida, United States
United States, Illinois
Childrens Memorial Hospital, Chicago Recruiting
Chicago, Illinois, United States, 60614-3394
Illinois Retina Center Recruiting
Springfield, Illinois, United States
United States, Maryland
Wilmer Eye Institute Recruiting
Baltimore, Maryland, United States
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information contact eyeGENE Coordinating Center    301-435-3032   
United States, Massachusetts
Childrens Hospital, Boston Recruiting
Boston, Massachusetts, United States, 02115
Harvard University Recruiting
Boston, Massachusetts, United States, 02115
Massachusetts Eye and Ear Infirmary Recruiting
Boston, Massachusetts, United States, 02114-3096
University of Massachusetts Recruiting
Worcester, Massachusetts, United States, 01655-0331
United States, Michigan
University of Michigan Recruiting
Ann Arbor, Michigan, United States, 48109-0624
United States, Missouri
Washington University, St. Louis Recruiting
St. Louis, Missouri, United States, 63110
United States, New York
Columbia University Recruiting
New York, New York, United States, 10032-3784
New York Eye Ear Infirmary Recruiting
New York, New York, United States
United States, North Carolina
University of North Carolina Recruiting
Chapel Hill, North Carolina, United States, 27599-7030
Duke Univ Health System Recruiting
Durham, North Carolina, United States
United States, Ohio
Cleveland Clinic Foundation Childrens Hospital Recruiting
Cleveland, Ohio, United States, 44195
Cole Eye Institute - Cleveland Clinic Foundation Recruiting
Cleveland, Ohio, United States, 44195
United States, Oregon
Oregon Health Sciences University Recruiting
Portland, Oregon, United States, 97201-3098
United States, Texas
University of Texas Southwestern Medical Center Recruiting
Dallas, Texas, United States, 75390
Baylor College of Medicine Recruiting
Houston, Texas, United States, 77030
University of Texas, Houston Recruiting
Houston, Texas, United States, 77030
United States, Utah
University of Utah Recruiting
Salt Lake City, Utah, United States, 84112
United States, Wisconsin
Medical College of Wisconsin Recruiting
Milwaukee, Wisconsin, United States
Ivey Eye Institute Recruiting
Ontario, Canada
Sponsors and Collaborators
National Eye Institute (NEI)
Principal Investigator: Brian P Brooks, M.D. National Eye Institute (NEI)
  More Information

Additional Information:
No publications provided by National Institutes of Health Clinical Center (CC)

Additional publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ) Identifier: NCT00378742     History of Changes
Other Study ID Numbers: 060236, 06-EI-0236
Study First Received: September 20, 2006
Last Updated: October 23, 2015
Health Authority: United States: Federal Government

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

Additional relevant MeSH terms:
Retinitis Pigmentosa
Eye Diseases
Eye Diseases, Hereditary
Genetic Diseases, Inborn
Retinal Degeneration
Retinal Diseases
Retinal Dystrophies processed this record on November 24, 2015