Age-related Macular DegenerationRPED GeneticsNCT01650948
Genetic Load and Phenotype in Aggressive AMD
An observational study of Age-related Macular Degeneration, run by Sequenom, Inc. at 3 sites in United States.
Trial summary
Patients with AMD will provide cheek cell samples to determine if their is a correlation between genotype (DNA markers) and phenotype (the type of AMD the patient has). Read more about this study
- Who is it for?
- Ages 50 years and older
- Conditions the study is for
- Age-related Macular Degeneration
- What is being tested?
- RetnaGene AMD LDT
- Type of treatment
- Medical device
- How many people
- 100 participants
- Where
- 3 sitesUnited States
- Study dates
- Jul 2012to Dec 2013
- 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
- No healthy volunteers
- Adult, Older adult
Study population: Patients with AMD who are or have been treated with anti-VEGF therapy
Who may be able to join
- Subject is male or female 50 years of age and older
- Subject provides a signed and dated informed consent
- Subject agrees to provide two buccal swabs in accordance with this protocol
- Diagnosis of CNV secondary to AMD in at least one eye
Who cannot join
- Previous sample donation under this protocol
- 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 imaging of the posterior segment.
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Retina Associates of Kentucky
Lexington, Kentucky, 40509
Tennessee Retina
Nashville, Tennessee, 37203
Pacific Eye Associates
San Francisco, California, 94115
About this study
Official title: Evaluation of Genetic Variants in Patients Under Treatment for Choroidal Neovascular (CNV) Age-related Macular Degeneration (AMD), Receiving Intravitreal antiVEGF Injections to Evaluate the Association Between Genetic Load and Phenotypes Associated With More Aggressive Forms of Disease.
Patients with AMD will provide cheek cell samples to determine if their is a correlation between genotype (DNA markers) and phenotype (the type of AMD the patient has).
Read the detailed description
This study seeks to test individuals who have already progressed to various forms of AMD to evaluate correlations between genetic markers and particular features of AMD including geographic atrophy and pigment epithelial detachments. We hypothesize that patients with more aggressive forms of AMD will have a higher genetic burden contributed by markers in ARMS 2, Complement Factor H (CFH), Complement component 3 (C3), Complement component 2 (C2) , Factor B (FB), or other genetic polymorphisms associated with CNV.
- Conditions
- Age-related Macular Degeneration
- Being tested
- RetnaGene AMD LDT
- Keywords
- age-related macular degeneration, AMD
- Medical subject headings
- Macular Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RetnaGene AMD LDTDevice
| Study group | Role | What they receive |
|---|---|---|
| AMD subjects with GA and/or RPED | All subjects will have AMD and GA and/or RPED. Receives: Device: RetnaGene AMD LDT | |
| AMD subjects with CNV alone | All subjects will have the CNV form of AMD only. Receives: Device: RetnaGene AMD LDT |
What is being measured
The primary outcome is the main question the study is designed to answer.
The identification of individual genetic markers or a quantitative measure of total genetic burden found to be significantly associated (p value <0.05) with group classification (CNV only versus CNV with GA and/or RPED).
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jul 2012 (estimated)
- Study startJul 2012
- Primary completionDec 2013
- Study completionDec 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sequenom, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01650948
- Sponsor's protocol ID
- SQNM-AMD-106
- Acronym
- RPED Genetics
- Status last verified
- Jan 2014
- First submitted
- 24 Jul 2012
- Last updated
- 20 Jan 2014
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Jan 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Genetic Variants in Patients Under Treatment for Choroidal Neovascular (CNV) Age-related Macular Degeneration (AMD), Receiving Intravitreal antiVEGF Injections to Evaluate the Association Between Genetic Load and Phenotypes Associated With More Aggressive Forms of Disease.
- ClinicalTrials.gov ID
- NCT01650948
- Acronym / sponsor ID
- RPED Genetics / SQNM-AMD-106
- Conditions
- Age-related Macular Degeneration
- Keywords
- age-related macular degeneration, AMD
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 100 participants (actual)
- Lead sponsor
- Sequenom, Inc.Industry (pharma, biotech, devices)
- Study start
- Jul 2012
- Primary completion
- Dec 2013 (actual)
- Study completion
- Dec 2013 (actual)
- First posted
- 26 Jul 2012 (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.
Patients with AMD will provide cheek cell samples to determine if their is a correlation between genotype (DNA markers) and phenotype (the type of AMD the patient has).
Detailed description
This study seeks to test individuals who have already progressed to various forms of AMD to evaluate correlations between genetic markers and particular features of AMD including geographic atrophy and pigment epithelial detachments. We hypothesize that patients with more aggressive forms of AMD will have a higher genetic burden contributed by markers in ARMS 2, Complement Factor H (CFH), Complement component 3 (C3), Complement component 2 (C2) , Factor B (FB), or other genetic polymorphisms associated with CNV.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| AMD subjects with GA and/or RPED | – | Device: RetnaGene AMD LDTAll subjects will have AMD and GA and/or RPED. |
| AMD subjects with CNV alone | – | Device: RetnaGene AMD LDTAll subjects will have the CNV form of AMD only. |
Who may qualify
- Ages
- 50 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with AMD who are or have been treated with anti-VEGF therapy
Key inclusion criteria (4 listed)
- Subject is male or female 50 years of age and older
- Subject provides a signed and dated informed consent
- Subject agrees to provide two buccal swabs in accordance with this protocol
- Diagnosis of CNV secondary to AMD in at least one eye
Key exclusion criteria (3 listed)
- Previous sample donation under this protocol
- 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 imaging of the posterior segment.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| RetnaGene AMD LDT | Device | AMD subjects with CNV alone, AMD subjects with GA and/or RPED |
Primary outcome
The identification of individual genetic markers or a quantitative measure of total genetic burden found to be significantly associated (p value <0.05) with group classification (CNV only versus CNV with GA and/or RPED).
Time frame: 1 day
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 20 Jan 2014.
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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.
3 sites 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 Sequenom, Inc. at 3 sites 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 4 inclusion and 3 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 20 Jan 2014. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites 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.
What does the primary outcome measure?
The identification of individual genetic markers or a quantitative measure of total genetic burden found to be significantly associated (p value <0.05) with group classification (CNV only versus CNV with GA and/or RPED). (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 20 Jan 2014.