Repository for Inherited Eye Diseases

• ClinicalTrials.gov Identifier: NCT00378742
• Recruitment Status: Active, not recruiting
• First Posted: September 21, 2006
• Last Update Posted: February 21, 2023
• Sponsor: National Eye Institute (NEI)
• Information provided by (Responsible Party): National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )

Study Description

Brief Summary:

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

Detailed Description:

Molecular genetics has the potential to revolutionize the diagnosis and treatment of inherited eye diseases. Progress in research on inherited eye disease would be augmented by the availability of patient DNA coupled to robust, anonymous phenotypic information. The National Ophthalmic Genotyping and Phenotyping Network (eyeGENE(R)) has been created to answer this need. By creating a national DNA and blood repository for inherited eye disease. These samples have been gathered from clinical centers around the nation and will be coupled to anonymous, phenotypic descriptors. If requested, a portion of the sample submitted by a clinician can be used for appropriate, CLIA-certified molecular diagnostics that can be used in patient care. Once a sufficient repository is created, researchers will be able to request aliquots for their laboratory experiments. Participants will be provided the option to be re-contacted if an approved clinical study for which they might qualify is offered. Researchers can request aliquots for their laboratory experiments or ask the eyeGENE(R) Coordinating Center to re-contact participants to inform them about the possibility to participate in a clinical study.

Study Design

• Study Type: Observational
• Actual Enrollment: 6618 participants
• Observational Model: Cohort
• Time Perspective: Cross-Sectional
• 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

Groups and Cohorts

Group/Cohort
Participants; Participants with inherited eye diseases or relative of affected participant

Outcome Measures

Primary Outcome Measures :

1. 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.

Eligibility Criteria

• 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

Study Population

Participants with inherited eye diseases or their unaffected relatives.

Criteria

• 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 .

Contacts and Locations

Locations

United States, Maryland

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

National Eye Institute (NEI)

Investigators

• Principal Investigator: Robert B Hufnagel, M.D.; National Eye Institute (NEI)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page 

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Bender C, Woo EG, Guan B, Ullah E, Feng E, Turriff A, Tumminia SJ, Sieving PA, Cukras CA, Hufnagel RB. Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. Genes (Basel). 2022 Apr 12;13(4):675. doi: 10.3390/genes13040675.

Parrish RS, Garafalo AV, Ndifor V, Goetz KE, Reeves MJ, Yim A, Cooper RC, Iano-Fletcher J, Wang X, Tumminia SJ. Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository. Biopreserv Biobank. 2016 Apr;14(2):149-55. doi: 10.1089/bio.2015.0098. Epub 2016 Feb 18.

Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R. Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. Invest Ophthalmol Vis Sci. 2014 Jul 31;55(9):5510-21. doi: 10.1167/iovs.14-14359.

Sullivan LS, Bowne SJ, Reeves MJ, Blain D, Goetz K, Ndifor V, Vitez S, Wang X, Tumminia SJ, Daiger SP. Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013 Sep 19;54(9):6255-61. doi: 10.1167/iovs.13-12605.

• Responsible Party: National Eye Institute (NEI)
• ClinicalTrials.gov Identifier: NCT00378742
• Other Study ID Numbers: 060236; 06-EI-0236
• First Posted: September 21, 2006
• 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

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):

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

Additional relevant MeSH terms:

Retinitis; Retinitis Pigmentosa; Retinal Diseases; Eye Diseases; Eye Diseases, Hereditary; Retinal Dystrophies; Retinal Degeneration; Genetic Diseases, Inborn