This study is NOT currently recruiting participants.
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)
Condition(s)
Retinitis Pigmentosa; Inherited Ophthalmic Diseases
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Eye Institute
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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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 .
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 .
Principal Investigator
Referral Contact
For more information: