Protocol Details

National Ophthalmic Genotyping and Phenotyping Network, Stage 1 - Creation of DNA Repository for Inherited Ophthalmic Diseases

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	06-EI-0236
Sponsoring Institute	National Eye Institute (NEI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 0 Max Age: 100
Referral Letter Required	Yes
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Gene; Phenotype-Genotype correlation; Molecular Diagnosis; Retinal Degeneration; Genetics; Retinitis Pigmentosa; Congestive Fibrosis of Extraocular Muscles; Macular Dystrophy; Congenital Glaucoma
Recruitment Keyword(s)	Inherited Eye Disease; Retinal Degeneration; Retinitis Pigmentosa; Macular Dystrophy; Congenital Glaucoma
Condition(s)	Retinitis Pigmentosa; Inherited Ophthalmic Diseases
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Eye Institute

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(Trademark)) 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.

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Eligibility

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(Trademark) 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(Registered Trademark).

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Citations:

Not Provided

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Contacts:

Principal Investigator	Referral Contact	For more information:
Brian P. Brooks, M.D. National Eye Institute (NEI) National Institutes of Health Building 10 Room 10N226 10 Center Drive Bethesda, Maryland 20892 (301) 435-3032 BrooksB@mail.nih.gov	Kerry E. Goetz National Eye Institute (NEI) National Institutes of Health Building 10 Room 10N254 10 Center Drive Bethesda, Maryland 20892 (301) 443-7835 goetzke@mail.nih.gov	eyeGene Coordinating Center National Institutes of Health Building 10 Room 10N226 10 Center Drive Bethesda, Maryland 20892 (301) 435-3032 eyegeneinfo@nei.nih.gov

Clinical Trials Number:

NCT00378742

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