Repository for Inherited Eye Diseases
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|ClinicalTrials.gov Identifier: NCT00378742|
Recruitment Status : Active, not recruiting
First Posted : September 21, 2006
Last Update Posted : February 21, 2023
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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|
|Study Type :||Observational|
|Actual Enrollment :||6618 participants|
|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|
Participants with inherited eye diseases or relative of affected participant
- Obtain samples for the creation of eyeGENE network [ Time Frame: 34 years ]Obtain and create a national DNA and blood repository for inherited eye diseases.
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|
|Sampling Method:||Non-Probability Sample|
- 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.
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 .
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
|United States, Maryland|
|National Institutes of Health Clinical Center|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Robert B Hufnagel, M.D.||National Eye Institute (NEI)|
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
|Responsible Party:||National Eye Institute (NEI)|
|Other Study ID Numbers:||
|First Posted:||September 21, 2006 Key Record Dates|
|Last Update Posted:||February 21, 2023|
|Last Verified:||February 16, 2023|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||No|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Eye Diseases, Hereditary
Genetic Diseases, Inborn