Age-Related Macular DegenerationNCT00357578
Genetic Study of Age-Related Macular Degeneration
An observational study of Age-Related Macular Degeneration, run by National Eye Institute (NEI) at 1 site in United States.
Trial summary
This study will examine skin and blood cells for genetic changes related to the development of age-related macular degeneration, an eye disease that can significantly impair the ability to read, drive, and carry out daily activities. It is the most common cause of vision loss in people over the age of 50. Read more about this study
- Who is it for?
- Ages 50 years and olderHealthy volunteers can take part
- Conditions the study is for
- Age-Related Macular Degeneration
- How many people
- 150 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Apr 2000to 19 Sep 2007
- 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 50 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- INCLUSION CRITERIA 1 THROUGH 3 APPLY TO THE FIRST TWELVE PARTICIPANTS ENROLLED. INCLUSION CRITERIA 4 THROUGH 6 APPLY TO THE LAST 50 PARTICIPANTS ENROLLED.
- AMD Patients: Diagnosis of AMD defined by the presence of at least one druse greater than 125 microns in diameter (4 patients) or geographic atrophy in at least one eye or choroidal neovascularization with drusen of any size in at least one eye (4 patients). (AMD cases only)
- Age 60 years or older.
- Age-matched control patients, absence of drusen or no more than 5 drusen less than 63 microns, absence of other diagnostic criteria for AMD, and age 60 years or older. The distribution of ages in the control group will be as similar as possible to the distribution of ages in the disease groups (4 patients).
- AMD Patients: Diagnosis of AMD defined by the presence of at least one druse greater than 125 microns in diameter (10 patients), geographic atrophy (10 patients) and choroidal neovascularization with drusen of any size in at least one eye and/or disciform scar (20 patients). (AMD cases only) Presence of neovascularization and disciform scar formation will be verified by color photography.
- Age 50 years or older.
- Age-matched control patients: absence of drusen or no more than 5 drusen less than 63 microns, absence of other diagnostic criteria for AMD, and age 50 years or older. The distribution of ages in the control group.
Who cannot join
- Patient age less than 50 years.
- Presence of retinal disease involving the photoreceptors and/or outer retinal layers other than AMD loss such as high myopia, retinal dystrophies, central serous retinopathy, vein occlusion, diabetic retinopathy and uveitis or similar outer retinal diseases which have been present prior to the age of 50.
- Opacities of the ocular media, limitations of pupillary dilation or other problems sufficient to preclude adequate stereo fundus photography.
- Medical problems which make consistent follow-up over the treatment period unlikely (e.g., stroke, severe MI, terminal carcinoma).
- Inability or inaccessibility to obtain dermal biopsy from the inner aspect of both arms due to previous trauma, underlying skin disorder which would preclude good wound healing, previous surgery of the arm or breast which could prevent good wound healing or induce other changes at the biopsy site.
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: A Case Control Study of Age-Related Macular Degeneration (AMD) Examining Gene Expression Patterns in Circulating Monocytes From Peripheral Blood Samples
This study will examine skin and blood cells for genetic changes related to the development of age-related macular degeneration, an eye disease that can significantly impair the ability to read, drive, and carry out daily activities. It is the most common cause of vision loss in people over the age of 50.
People with age-related macular degeneration and healthy normal volunteers age 50 years or older may be eligible for this study. Candidates will undergo a medical history, physical examination and eye examination with dilation of the pupils. Photographs of the eye will be taken with a special camera.
Read more
Study participants will have blood drawn three times (no more than 6 tablespoons each time) and will undergo three skin biopsies. For the skin biopsy, an anesthetic is injected under the skin and a small piece of skin-approximately 1/4-inch cube-is removed. The blood draws and biopsies will be done at 7- to 10-day intervals. In most cases, a single biopsy is done at each visit, but it may be necessary to take-at most-one additional biopsy from the other arm during the same visit. Patients will return for one follow-up visit 7 to 10 days after the last biopsy for examination of the biopsy site and removal of any stitches.
The results of this study may provide investigators information needed to develop new means of diagnosing and treating age-related macular degeneration.
Read the detailed description
Age-related macular degeneration (AMD) represents the most common cause of blindness in patients over the age of 50. While both hereditary and environmental factors appear to play a role in the pathogenesis of the disease, no common genetic mutations have been identified. This pilot study is intended to test the feasibility of evaluating the patterns of expression of genes that may be involved in the pathogenesis of AMD. The genes of interest are involved in the process of wound repair, cell injury and cell death. We hope to access the expression of these genes, but in tissues taken from non-ocular sites, in patients with AMD and in patients without AMD.
Biopsied skin fibroblasts and circulating monocytes from 62 patients will be obtained; 14 without AMD, 14 with at least one large (greater than 125 microns) druse, with geographic atrophy and/or choroidal neovascularization from AMD, 10 with geographic atrophy only, and 20 with choroidal neovascularization and/or disciform scar. The gene expression patterns from these tissues will be examined through various techniques including polymerase chain reaction, Northern blot analysis, differential display and microarray technology. The genetic expression patterns in patients with AMD will then be compared to age-matched control subjects. The primary outcome will be to determine the feasibility of obtaining skin and monocyte samples from patients with AMD, extracting RNA from these samples, and studying gene expression patterns. This study will provide investigators with information needed to develop subsequent studies of potential diagnostic tests.
- Conditions
- Age-Related Macular Degeneration
- Keywords
- Macrophages, Biopsy, Genetic Analysis, Geographic Atrophy, Choroidal Neovascularization, Fibroblast, Disciform, Age-Related Macular Degeneration
- Medical subject headings
- Macular Degeneration, Geographic Atrophy, Choroidal Neovascularization
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jul 2006 (estimated)
- Study start14 Apr 2000
- Study completion19 Sep 2007
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Age-Related Macular DegenerationStudies 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
- Enrolment
- 150 participants
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00357578
- Sponsor's protocol ID
- 000114
- Other IDs
- 00-EI-0114
- Status last verified
- 19 Sep 2007
- First submitted
- 26 Jul 2006
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Bird AC, Bressler NM, Bressler SB, Chisholm IH, Coscas G, Davis MD, de Jong PT, Klaver CC, Klein BE, Klein R, et al. An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol. 1995 Mar-Apr;39(5):367-74. doi: 10.1016/s0039-6257(05)80092-x.
PubMed 7604360
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Case Control Study of Age-Related Macular Degeneration (AMD) Examining Gene Expression Patterns in Circulating Monocytes From Peripheral Blood Samples
- ClinicalTrials.gov ID
- NCT00357578
- Acronym / sponsor ID
- 000114
- Conditions
- Age-Related Macular Degeneration
- Keywords
- Macrophages, Biopsy, Genetic Analysis, Geographic Atrophy, Choroidal Neovascularization, Fibroblast, Disciform, Age-Related Macular Degeneration
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 150 participants
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 14 Apr 2000
- Study completion
- 19 Sep 2007
- First posted
- 27 Jul 2006 (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 examine skin and blood cells for genetic changes related to the development of age-related macular degeneration, an eye disease that can significantly impair the ability to read, drive, and carry out daily activities. It is the most common cause of vision loss in people over the age of 50.
People with age-related macular degeneration and healthy normal volunteers age 50 years or older may be eligible for this study. Candidates will undergo a medical history, physical examination and eye examination with dilation of the pupils. Photographs of the eye will be taken with a special camera.
Study participants will have blood drawn three times (no more than 6 tablespoons each time) and will undergo three skin biopsies. For the skin biopsy, an anesthetic is injected under the skin and a small piece of skin-approximately 1/4-inch cube-is removed. The blood draws and biopsies will be done at 7- to 10-day intervals. In most cases, a single biopsy is done at each visit, but it may be necessary to take-at most-one additional biopsy from the other arm during the same visit. Patients will return for one follow-up visit 7 to 10 days after the last biopsy for examination of the biopsy site and removal of any stitches.
The results of this study may provide investigators information needed to develop new means of diagnosing and treating age-related macular degeneration.
Detailed description
Age-related macular degeneration (AMD) represents the most common cause of blindness in patients over the age of 50. While both hereditary and environmental factors appear to play a role in the pathogenesis of the disease, no common genetic mutations have been identified. This pilot study is intended to test the feasibility of evaluating the patterns of expression of genes that may be involved in the pathogenesis of AMD. The genes of interest are involved in the process of wound repair, cell injury and cell death. We hope to access the expression of these genes, but in tissues taken from non-ocular sites, in patients with AMD and in patients without AMD.
Biopsied skin fibroblasts and circulating monocytes from 62 patients will be obtained; 14 without AMD, 14 with at least one large (greater than 125 microns) druse, with geographic atrophy and/or choroidal neovascularization from AMD, 10 with geographic atrophy only, and 20 with choroidal neovascularization and/or disciform scar. The gene expression patterns from these tissues will be examined through various techniques including polymerase chain reaction, Northern blot analysis, differential display and microarray technology. The genetic expression patterns in patients with AMD will then be compared to age-matched control subjects. The primary outcome will be to determine the feasibility of obtaining skin and monocyte samples from patients with AMD, extracting RNA from these samples, and studying gene expression patterns. This study will provide investigators with information needed to develop subsequent studies of potential diagnostic tests.
Study design
Who may qualify
- Ages
- 50 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (7 listed)
- INCLUSION CRITERIA 1 THROUGH 3 APPLY TO THE FIRST TWELVE PARTICIPANTS ENROLLED. INCLUSION CRITERIA 4 THROUGH 6 APPLY TO THE LAST 50 PARTICIPANTS ENROLLED.
- AMD Patients: Diagnosis of AMD defined by the presence of at least one druse greater than 125 microns in diameter (4 patients) or geographic atrophy in at least one eye or choroidal neovascularization with drusen of any size in at least one eye (4 patients). (AMD cases only)
- Age 60 years or older.
- Age-matched control patients, absence of drusen or no more than 5 drusen less than 63 microns, absence of other diagnostic criteria for AMD, and age 60 years or older. The distribution of ages in the control group will be as similar as possible to the distribution of ages in the disease groups (4 patients).
- AMD Patients: Diagnosis of AMD defined by the presence of at least one druse greater than 125 microns in diameter (10 patients), geographic atrophy (10 patients) and choroidal neovascularization with drusen of any size in at least one eye and/or disciform scar (20 patients). (AMD cases only) Presence of neovascularization and disciform scar formation will be verified by color photography.
Key exclusion criteria (5 listed)
- Patient age less than 50 years.
- Presence of retinal disease involving the photoreceptors and/or outer retinal layers other than AMD loss such as high myopia, retinal dystrophies, central serous retinopathy, vein occlusion, diabetic retinopathy and uveitis or similar outer retinal diseases which have been present prior to the age of 50.
- Opacities of the ocular media, limitations of pupillary dilation or other problems sufficient to preclude adequate stereo fundus photography.
- Medical problems which make consistent follow-up over the treatment period unlikely (e.g., stroke, severe MI, terminal carcinoma).
- Inability or inaccessibility to obtain dermal biopsy from the inner aspect of both arms due to previous trauma, underlying skin disorder which would preclude good wound healing, previous surgery of the arm or breast which could prevent good wound healing or induce other changes at the biopsy site.
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 2 Jul 2017.
- Background: PubMed 7604360Bird AC, Bressler NM, Bressler SB, Chisholm IH, Coscas G, Davis MD, de Jong PT, Klaver CC, Klein BE, Klein R, et al. An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol. 1995 Mar-Apr;39(5):367-74. doi: 10.1016/s0039-6257(05)80092-x.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Age-Related Macular Degeneration, 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 7 inclusion and 5 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 2 Jul 2017. 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 NCT00357578, which also lists 1 linked publication.
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 2 Jul 2017.