Age-Related Macular Degeneration, Genetic Testing, Nutritional Biomarkers
Conditions
Brief summary
The goals of this study are: To assess the impact of genetic testing for Age-related Macular Degeneration (AMD) on lifestyle behaviors as measured by systemic and ocular carotenoid status.
Interventions
BEHAVIORALEarly disclosure of genetic testing results
Early disclosure group receives results of genetic testing at Month 1
BEHAVIORALLate disclosure of genetic testing results
Late disclosure group receives results of genetic testing at Month 12
Sponsors
National Eye Institute (NEI)
Paul S. Bernstein
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
PREVENTION
Masking
TRIPLE (Subject, Investigator, Outcomes Assessor)
Masking description
Participants will be masked to their AMD risk until their disclosure. Outcomes assessor and investigator will be masked to treatment assignment until completion of study.
Eligibility
Sex/Gender
ALL
Age
18 Years to 64 Years
Healthy volunteers
Yes
Inclusion criteria
* Participants must be between 18 and 64 years of age. * They must also be Caucasian as this genetic test is only validated in Caucasians. * They can have a positive family history of AMD but this is not necessary.
Exclusion criteria
* Personal history of AMD * Non Caucasian * Employee of the Moran or other eye care practice (likely to have more knowledge about AMD than a layperson) * Personal history of prior genetic testing for AMD risk * Anticipated cataract surgery in the upcoming year (can affect Macular Pigment measurement) * Major psychiatric disorder
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in Skin Carotenoid Status in Response to Genetic Risk Disclosure as Measured by Reflectance Spectroscopy | Baseline and Month 12 | Reflectance Spectroscopy (RS) is measured by Reflection Units. Possible scores range from 0 (no carotenoids detected) to greater than 500. Change = (Month 12 Score - Baseline Score). |
| Change in Skin Carotenoid Status in Response to Genetic Risk Disclosure as Measured by Resonance Raman Spectroscopy | Baseline and Month 12 | Resonance Raman Spectroscopy (RSS) is measured in Resonance Raman Units (RRU). Possible scores range from 0 (no carotenoids detected) to greater than 100,000. Change = (Month 12 Score - Baseline Score). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in Ocular Carotenoid Status in Response to Genetic Risk Disclosure as Measured by Macular Pigment Optical Volume | Baseline and Month 12 | Macular Pigment Optical Volume (MPOV) is a unitless measure of the amount of carotenoids present in the macula. Possible scores range from 0 (no carotenoids detected) to greater than 50,000. Change = (Month 12 Score - Baseline Score). |
| Change in Serum Carotenoid Status in Response to Genetic Risk Disclosure | Baseline and Month 12 | Serum carotenoid levels are measured in nanograms per milliliter (ng/mL). Possible scores range from 0 (no carotenoids detected) to greater than 1,000. Change = (Month 12 Score - Baseline Score). |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Early Genetic Results Disclosure Early disclosure group receives results of genetic testing at Month 1
Early disclosure of genetic testing results: Early disclosure group receives results of genetic testing at Month 1 | 60 |
| Late Genetic Results Disclosure Late disclosure group receives results of genetic testing at Month 12
Late disclosure of genetic testing results: Late disclosure group receives results of genetic testing at Month 12 | 20 |
| Total | 80 |
Withdrawals & dropouts
| Period | Reason | FG000 | FG001 |
|---|---|---|---|
| Overall Study | Lost to Follow-up | 3 | 0 |
| Overall Study | Withdrawal by Subject | 1 | 0 |
Baseline characteristics
| Characteristic | Total | Late Genetic Results Disclosure | Early Genetic Results Disclosure |
|---|---|---|---|
| Age, Continuous | 48.6 years STANDARD_DEVIATION 10.6 | 51.3 years STANDARD_DEVIATION 10.3 | 47.7 years STANDARD_DEVIATION 10.6 |
| Ethnicity (NIH/OMB) Hispanic or Latino | 0 Participants | 0 Participants | 0 Participants |
| Ethnicity (NIH/OMB) Not Hispanic or Latino | 80 Participants | 20 Participants | 60 Participants |
| Ethnicity (NIH/OMB) Unknown or Not Reported | 0 Participants | 0 Participants | 0 Participants |
| Macular carotenoid status at baseline | 10,175.5 unitless | 9,945 unitless | 10,252 unitless |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Asian | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Black or African American | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) More than one race | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) White | 80 Participants | 20 Participants | 60 Participants |
| Region of Enrollment United States | 80 participants | 20 participants | 60 participants |
| Serum carotenoid status at baseline | 603.3 nanograms per milliliter (ng/mL) STANDARD_DEVIATION 333.6 | 541.8 nanograms per milliliter (ng/mL) STANDARD_DEVIATION 247.3 | 623.9 nanograms per milliliter (ng/mL) STANDARD_DEVIATION 357.2 |
| Sex: Female, Male Female | 63 Participants | 14 Participants | 49 Participants |
| Sex: Female, Male Male | 17 Participants | 6 Participants | 11 Participants |
| Skin carotenoid status at baseline by RRS | 27,695.5 Resonance Raman Units (RRU) | 27,185 Resonance Raman Units (RRU) | 27,865 Resonance Raman Units (RRU) |
| Skin carotenoid status at baseline by RS | 267.5 Reflection Units (RU) STANDARD_DEVIATION 110 | 261 Reflection Units (RU) STANDARD_DEVIATION 101.1 | 269 Reflection Units (RU) STANDARD_DEVIATION 113.5 |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk |
|---|---|---|
| deaths Total, all-cause mortality | 0 / 60 | 0 / 20 |
| other Total, other adverse events | 18 / 60 | 2 / 20 |
| serious Total, serious adverse events | 0 / 60 | 0 / 20 |
Outcome results
Primary
Change in Skin Carotenoid Status in Response to Genetic Risk Disclosure as Measured by Reflectance Spectroscopy
Reflectance Spectroscopy (RS) is measured by Reflection Units. Possible scores range from 0 (no carotenoids detected) to greater than 500. Change = (Month 12 Score - Baseline Score).
Time frame: Baseline and Month 12
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Early Genetic Results Disclosure | Change in Skin Carotenoid Status in Response to Genetic Risk Disclosure as Measured by Reflectance Spectroscopy | 257.7 Reflection units (RU) | Standard Error 7.4 |
| Late Genetic Results Disclosure | Change in Skin Carotenoid Status in Response to Genetic Risk Disclosure as Measured by Reflectance Spectroscopy | 290.9 Reflection units (RU) | Standard Error 12.5 |
Primary
Change in Skin Carotenoid Status in Response to Genetic Risk Disclosure as Measured by Resonance Raman Spectroscopy
Resonance Raman Spectroscopy (RSS) is measured in Resonance Raman Units (RRU). Possible scores range from 0 (no carotenoids detected) to greater than 100,000. Change = (Month 12 Score - Baseline Score).
Time frame: Baseline and Month 12
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Early Genetic Results Disclosure | Change in Skin Carotenoid Status in Response to Genetic Risk Disclosure as Measured by Resonance Raman Spectroscopy | 30,578.3 Resonance raman units (RRU) | Standard Error 653.6 |
| Late Genetic Results Disclosure | Change in Skin Carotenoid Status in Response to Genetic Risk Disclosure as Measured by Resonance Raman Spectroscopy | 31,678.6 Resonance raman units (RRU) | — |
Secondary
Change in Ocular Carotenoid Status in Response to Genetic Risk Disclosure as Measured by Macular Pigment Optical Volume
Macular Pigment Optical Volume (MPOV) is a unitless measure of the amount of carotenoids present in the macula. Possible scores range from 0 (no carotenoids detected) to greater than 50,000. Change = (Month 12 Score - Baseline Score).
Time frame: Baseline and Month 12
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Early Genetic Results Disclosure | Change in Ocular Carotenoid Status in Response to Genetic Risk Disclosure as Measured by Macular Pigment Optical Volume | 10,622.6 unitless | Standard Error 173 |
| Late Genetic Results Disclosure | Change in Ocular Carotenoid Status in Response to Genetic Risk Disclosure as Measured by Macular Pigment Optical Volume | 10,566.1 unitless | Standard Error 290 |
Secondary
Change in Serum Carotenoid Status in Response to Genetic Risk Disclosure
Serum carotenoid levels are measured in nanograms per milliliter (ng/mL). Possible scores range from 0 (no carotenoids detected) to greater than 1,000. Change = (Month 12 Score - Baseline Score).
Time frame: Baseline and Month 12
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Early Genetic Results Disclosure | Change in Serum Carotenoid Status in Response to Genetic Risk Disclosure | Lutein + Zeaxanthin | 238.3 nanograms per milliliter (ng/mL) | Standard Error 17.2 |
| Early Genetic Results Disclosure | Change in Serum Carotenoid Status in Response to Genetic Risk Disclosure | Total Carotenoids | 618.0 nanograms per milliliter (ng/mL) | Standard Error 47.6 |
| Late Genetic Results Disclosure | Change in Serum Carotenoid Status in Response to Genetic Risk Disclosure | Lutein + Zeaxanthin | 279.2 nanograms per milliliter (ng/mL) | Standard Error 29.9 |
| Late Genetic Results Disclosure | Change in Serum Carotenoid Status in Response to Genetic Risk Disclosure | Total Carotenoids | 818.7 nanograms per milliliter (ng/mL) | Standard Error 82.7 |