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

Status: Completed
Location: See location...
Study Type: Observational
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 1 day
Maximum Age: 100
Healthy Volunteers: f
View:

• 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.

Locations
United States
Maryland
National Institutes of Health Clinical Center
Bethesda
Time Frame
Start Date: 2006-09-20
Completion Date: 2015-11-19
Participants
Target number of participants: 6618
Treatments
Participants
Participants with inherited eye diseases or relative of affected participant
Authors
Robert B Hufnagel
Sponsors
Leads: National Eye Institute (NEI)

This content was sourced from clinicaltrials.gov