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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.
 
ClinicalTrials.gov Identifier: NCT00378742
Recruitment Status : Active, not recruiting
First Posted : September 21, 2006
Last Update Posted : June 18, 2020
Sponsor:
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(R)) has been created to answer this need. By creating a national DNA and blood repository for inherited eye disease. These samples have been 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 can 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 can request aliquots for their laboratory experiments or ask the eyeGENE(R) Coordinating Center to re-contact participants to inform them about the possibility to participate in a clinical study.

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Study Type : Observational
Actual Enrollment : 6618 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: National Ophthalmic Genotyping and Phenotyping Network, Stage 1 - Creation of DNA Repository for Inherited Ophthalmic Diseases
Actual Study Start Date : September 20, 2006

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Eye Diseases

Group/Cohort
Participants
Participants with eye disease or their unaffected relatives.



Primary Outcome Measures :
  1. Creation of a National Ophthalmic Genotyping and Phenotyping Network (eyeGENE ). [ Time Frame: Life of the protocol ]
    Creation of a National Ophthalmic Genotyping and Phenotyping Network (eyeGENE(R)).



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.


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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Participants will be recruited from the NEI intramural program and by clinicians in academia and private practice. Recruitment will be aided by an informational website established by the NEI to include information for participants, referring clinicians, and researchers (http://www.nei.nih.gov/resources /eyegene.asp). Word-of-mouth, presentations at scientific meetings, posters, slide presentations, direct mail, list serves, pamphlets, newsletters and news stories will also be important recruitment mechanisms. A Focus on Disease series will be used to promote eyeGENE through various eye-related journals aimed at eye care professionals.
Criteria
  • INCLUSION CRITERIA:

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.

OR

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.

EXCLUSION CRITERIA:

  • 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 ClinicalTrials.gov identifier (NCT number): NCT00378742


Locations
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United States, California
University of California, San Francisco
San Francisco, California, United States, 94115
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Eye Institute (NEI)
Investigators
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Principal Investigator: Robert B Hufnagel, M.D. National Eye Institute (NEI)
Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: National Eye Institute (NEI)
ClinicalTrials.gov Identifier: NCT00378742    
Other Study ID Numbers: 060236
06-EI-0236
First Posted: September 21, 2006    Key Record Dates
Last Update Posted: June 18, 2020
Last Verified: April 29, 2020
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
Macular Dystrophy
Phenotype-Genotype correlation
Genetics
Retinitis Pigmentosa
Inherited
Additional relevant MeSH terms:
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Retinitis
Retinitis Pigmentosa
Retinal Diseases
Eye Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn