Diabetic RetinopathyNCT00647439
Genetics and Markers of Degenerative and Inflammatory Eye Diseases
An observational study of Diabetic Retinopathy and Age-Related Macular Degeneration (AMD), run by National Eye Institute (NEI) at 1 site in United States.
Trial summary
This study will identify genes that are associated with inflammation or degeneration of the retina (membrane lining the back of the eye that relays vision signals to the brain). It is thought that many retinal conditions are due to an altered immune system and are based on how the person s genes function and… Read more about this study
- Who is it for?
- Ages 4 years and olderHealthy volunteers can take part
- Conditions the study is for
- Diabetic Retinopathy, Age-Related Macular Degeneration (AMD), Uveitis
- How many people
- 609 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Mar 2008to 4 Dec 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Participants with the following will be recruited:
- Individuals or family members of individuals with immune mediated retinal disorders, including uveitis, age related macular degeneration, and diabetic retinopathy.
- Adults must be capable of providing their own consent.
- All participants must be able to cooperate with study examination and phlebotomy.
- Children must be older than 4 years of age.
Who cannot join
- Individuals with diseases, infections, or trauma that mimic immune medicated retinal disorders.
- Children requiring sedation for study procedures.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Epigenetics, Molecular Genetics, and Biomarkers of Degenerative and Inflammatory Ocular Diseases
This study will identify genes that are associated with inflammation or degeneration of the retina (membrane lining the back of the eye that relays vision signals to the brain). It is thought that many retinal conditions are due to an altered immune system and are based on how the person s genes function and communicate.
People 4 years of age or older who have a retinal condition such as uveitis, age-related macular degeneration or diabetic retinopathy may be eligible for this study. Healthy volunteers and healthy people who have a family member with one of these conditions are also eligible. Patients with inherited retinal degeneration are excluded.
Read more
Participants undergo the following tests and procedures:
- Eye examination to assess visual acuity (eye chart test) and eye pressure, and to examine the pupils, lenses, retina and eye movements. Photographs of the inside of the eye may also be taken. The pupils are dilated with drops for this examination.
- Blood draw for genetic testing.
Participants may also undergo one or more of the following tests:
- Optical coherence tomography. This is a type of photograph of the back of the eye to measure thickness of the retina.
- Fluorescein angiography and indocyanine green angiography. Pictures of the eye s blood vessels are taken using either a fluorescein or indocyanine green dye. The dye is injected into a vein in an arm and travels to the blood vessels in the eyes. A camera takes pictures of the dye as it flows through the blood vessels.
- Electroretinogram (ERG) to measure retinal function. The patient sits in a dark room for 30 minutes with his or her eyes patched. Then, a small metal disk electrode is taped to the forehead, the eye patches are removed, the surface of the eye is numbed with eye drops, and contact lenses are placed on the eyes. The patient then watches flashing lights. The contact lenses sense small electrical signals generated by the retina when the light flashes....
Read the detailed description
Objective:
This project will study epigenetic mechanisms, the inheritance of (both Mendelian and complex) and biomarkers of Immune Mediated Eye Diseases, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when genetically mutated or epigenetically regulated, cause immune mediated eye disease, and the pathophysiology through which they act.
Study Population: The number of participants to be enrolled has no logical upper limit, but will be at 1,000 during the next five years. Race, age and sex matched controls, anonymous volunteers will also be needed to donate a blood sample. The study consists of ascertaining individuals and families with multiple individuals, if possible, affected by immune mediated ocular disease.
Design:
These patients and their families will undergo detailed ophthalmologic examinations and, where indicated, additional non-investigational examinations to characterize their ocular status. A blood sample will be collected from each individual and immunophenotyped using Flow Cytometry. Serum will be isolated for testing serological markers. One or more sub-populations of cells (including but not limited to CD4 plus and CD8 plus T cells, B cells, CD14 plus monocytes, dendritic cells, NK cells, neutrophils and granulocytes) will be isolated. DNA, RNA and chromatin may be isolated for further gene expression profiling and epigenetic studies. Association of genetic or epigenetic changes with ocular inflammatory disease in patients and their families will be identified using one of the techniques including but not limited to DNA-seq, BS-seq, MeDIP-seq, ChIP-seq, RNA-seq, microarray, PCR, and multicolor Flow Cytometry staining. DNA samples from the AREDS study, held under the DCR/NEI Repository protocol (07-EI-0168), will also be used for analysis. If necessary, the gene product or blood sample will be characterized biochemically.
Outcome Measures:
Immunophenotyping, gene expression and epigenetic changes will be reported using Statistical analysis performed using the t test or ANOVA and post-hoc testing with Fisher s least significant difference test. Unless otherwise noted, results are presented as the mean SEM. Biochemical, metabolic, and physiological effects will be individualized to the specific assay
- Keywords
- OCULAR INFLAMMATORY DISEASE, Immune Mediated, Gene Expression Patterns, Diabetic Retinopathy, Age-Related Macular Degeneration, AMD, Uveitis
- Medical subject headings
- Diabetic Retinopathy, Macular Degeneration, Uveitis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Mar 2008 (estimated)
- Study start27 Mar 2008
- Study completion4 Dec 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Diabetic RetinopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Other
- Enrolment
- 609 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Hatice N Sen, M.D., Principal investigator, National Eye Institute (NEI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00647439
- Sponsor's protocol ID
- 080099
- Other IDs
- 08-EI-0099
- Status last verified
- 4 Dec 2018
- First submitted
- 28 Mar 2008
- Last updated
- 10 Dec 2018
- Results posted
- No
Publications
Becker KG, Simon RM, Bailey-Wilson JE, Freidlin B, Biddison WE, McFarland HF, Trent JM. Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):9979-84. doi: 10.1073/pnas.95.17.9979.
PubMed 9707586Richardson B. Primer: epigenetics of autoimmunity. Nat Clin Pract Rheumatol. 2007 Sep;3(9):521-7. doi: 10.1038/ncprheum0573.
PubMed 17762851Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature. 2005 Mar 17;434(7031):400-4. doi: 10.1038/nature03479.
PubMed 15772666
Study at a glance
From the registry record, last updated by the sponsor on 10 Dec 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Epigenetics, Molecular Genetics, and Biomarkers of Degenerative and Inflammatory Ocular Diseases
- ClinicalTrials.gov ID
- NCT00647439
- Acronym / sponsor ID
- 080099
- Keywords
- OCULAR INFLAMMATORY DISEASE, Immune Mediated, Gene Expression Patterns, Diabetic Retinopathy, Age-Related Macular Degeneration, AMD, Uveitis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 609 participants (actual)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 27 Mar 2008
- Study completion
- 4 Dec 2018
- First posted
- 31 Mar 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study will identify genes that are associated with inflammation or degeneration of the retina (membrane lining the back of the eye that relays vision signals to the brain). It is thought that many retinal conditions are due to an altered immune system and are based on how the person s genes function and communicate.
People 4 years of age or older who have a retinal condition such as uveitis, age-related macular degeneration or diabetic retinopathy may be eligible for this study. Healthy volunteers and healthy people who have a family member with one of these conditions are also eligible. Patients with inherited retinal degeneration are excluded.
Participants undergo the following tests and procedures:
- Eye examination to assess visual acuity (eye chart test) and eye pressure, and to examine the pupils, lenses, retina and eye movements. Photographs of the inside of the eye may also be taken. The pupils are dilated with drops for this examination.
- Blood draw for genetic testing.
Participants may also undergo one or more of the following tests:
- Optical coherence tomography. This is a type of photograph of the back of the eye to measure thickness of the retina.
- Fluorescein angiography and indocyanine green angiography. Pictures of the eye s blood vessels are taken using either a fluorescein or indocyanine green dye. The dye is injected into a vein in an arm and travels to the blood vessels in the eyes. A camera takes pictures of the dye as it flows through the blood vessels.
- Electroretinogram (ERG) to measure retinal function. The patient sits in a dark room for 30 minutes with his or her eyes patched. Then, a small metal disk electrode is taped to the forehead, the eye patches are removed, the surface of the eye is numbed with eye drops, and contact lenses are placed on the eyes. The patient then watches flashing lights. The contact lenses sense small electrical signals generated by the retina when the light flashes....
Detailed description
Objective:
This project will study epigenetic mechanisms, the inheritance of (both Mendelian and complex) and biomarkers of Immune Mediated Eye Diseases, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when genetically mutated or epigenetically regulated, cause immune mediated eye disease, and the pathophysiology through which they act.
Study Population: The number of participants to be enrolled has no logical upper limit, but will be at 1,000 during the next five years. Race, age and sex matched controls, anonymous volunteers will also be needed to donate a blood sample. The study consists of ascertaining individuals and families with multiple individuals, if possible, affected by immune mediated ocular disease.
Design:
These patients and their families will undergo detailed ophthalmologic examinations and, where indicated, additional non-investigational examinations to characterize their ocular status. A blood sample will be collected from each individual and immunophenotyped using Flow Cytometry. Serum will be isolated for testing serological markers. One or more sub-populations of cells (including but not limited to CD4 plus and CD8 plus T cells, B cells, CD14 plus monocytes, dendritic cells, NK cells, neutrophils and granulocytes) will be isolated. DNA, RNA and chromatin may be isolated for further gene expression profiling and epigenetic studies. Association of genetic or epigenetic changes with ocular inflammatory disease in patients and their families will be identified using one of the techniques including but not limited to DNA-seq, BS-seq, MeDIP-seq, ChIP-seq, RNA-seq, microarray, PCR, and multicolor Flow Cytometry staining. DNA samples from the AREDS study, held under the DCR/NEI Repository protocol (07-EI-0168), will also be used for analysis. If necessary, the gene product or blood sample will be characterized biochemically.
Outcome Measures:
Immunophenotyping, gene expression and epigenetic changes will be reported using Statistical analysis performed using the t test or ANOVA and post-hoc testing with Fisher s least significant difference test. Unless otherwise noted, results are presented as the mean SEM. Biochemical, metabolic, and physiological effects will be individualized to the specific assay
Study design
- Observational model
- Case-control
- Time perspective
- Other
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Individuals or family members of individuals with immune mediated retinal disorders, including uveitis, age related macular degeneration, and diabetic retinopathy.
- Adults must be capable of providing their own consent.
- All participants must be able to cooperate with study examination and phlebotomy.
- Children must be older than 4 years of age.
Key exclusion criteria (2 listed)
- Individuals with diseases, infections, or trauma that mimic immune medicated retinal disorders.
- Children requiring sedation for study procedures.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Dec 2018.
- Background: PubMed 9707586Becker KG, Simon RM, Bailey-Wilson JE, Freidlin B, Biddison WE, McFarland HF, Trent JM. Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):9979-84. doi: 10.1073/pnas.95.17.9979.
- Background: PubMed 17762851Richardson B. Primer: epigenetics of autoimmunity. Nat Clin Pract Rheumatol. 2007 Sep;3(9):521-7. doi: 10.1038/ncprheum0573.
- Background: PubMed 15772666Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature. 2005 Mar 17;434(7031):400-4. doi: 10.1038/nature03479.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Hatice N Sen, M.D. principal investigator
National Eye Institute (NEI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Diabetic Retinopathy and Age-Related Macular Degeneration (AMD), run by National Eye Institute (NEI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Dec 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00647439, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Dec 2018.