NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

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

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

06-EI-0236

Sponsoring Institute

National Eye Institute (NEI)

Recruitment Detail

Type: No longer recruiting/follow-up only
Gender: Male & Female
Min Age: 1 days
Max Age: 100 Years

Referral Letter Required

Yes

Population Exclusion(s)

None

Keywords

Macular Dystrophy;
Phenotype-Genotype correlation;
Genetics;
Retinitis Pigmentosa;
Inherited;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Retinitis Pigmentosa;
Inherited Ophthalmic Diseases

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Eye Institute

The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE(R)) is a genomic medicine initiative created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), in partnership with clinics and laboratories across the vision research community. The core mission of eyeGENE(R) is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatments. This study collects DNA samples from patients with inherited eye diseases to facilitate research to identify genetic factors responsible for these conditions. Nearly 500 genes that contribute to inherited eye diseases have been identified. As a result, gene-based therapies are being pursued to treat eye genetic diseases that were once considered untreatable.

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 biorepository. 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 are 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 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 .


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Kerry E. Goetz
National Eye Institute (NEI)
National Institutes of Health
Building 31
Room 6A03
31 Center Drive
Bethesda, Maryland 20892
(301) 605-5635
goetzke@nei.nih.gov

Kerry E. Goetz
National Eye Institute (NEI)
National Institutes of Health
Building 31
Room 6A03
31 Center Drive
Bethesda, Maryland 20892
(301) 605-5635
goetzke@nei.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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NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

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

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

06-EI-0236

Sponsoring Institute

National Eye Institute (NEI)

Recruitment Detail

Type: No longer recruiting/follow-up only
Gender: Male & Female
Min Age: 1 days
Max Age: 100 Years

Referral Letter Required

Yes

Population Exclusion(s)

None

Keywords

Macular Dystrophy;
Phenotype-Genotype correlation;
Genetics;
Retinitis Pigmentosa;
Inherited;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Retinitis Pigmentosa;
Inherited Ophthalmic Diseases

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Eye Institute

The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE(R)) is a genomic medicine initiative created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), in partnership with clinics and laboratories across the vision research community. The core mission of eyeGENE(R) is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatments. This study collects DNA samples from patients with inherited eye diseases to facilitate research to identify genetic factors responsible for these conditions. Nearly 500 genes that contribute to inherited eye diseases have been identified. As a result, gene-based therapies are being pursued to treat eye genetic diseases that were once considered untreatable.

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 biorepository. 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 are available to researchers along with information about the patient's disease, but without patient identifiers.

--Back to Top--

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 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 .


--Back to Top--

Citations:

Not Provided

--Back to Top--

Contacts:

Principal Investigator

Referral Contact

For more information:

Kerry E. Goetz
National Eye Institute (NEI)
National Institutes of Health
Building 31
Room 6A03
31 Center Drive
Bethesda, Maryland 20892
(301) 605-5635
goetzke@nei.nih.gov

Kerry E. Goetz
National Eye Institute (NEI)
National Institutes of Health
Building 31
Room 6A03
31 Center Drive
Bethesda, Maryland 20892
(301) 605-5635
goetzke@nei.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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