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| ID | Type | Description | Link |
|---|---|---|---|
| R01HG002213 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Human Genome Research Institute (NHGRI) | NIH |
| University of Michigan | OTHER |
| University of Pennsylvania | OTHER |
| Howard University |
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This study is intended to examine the impact of receiving a genetic risk assessment for Alzheimer's disease (AD) among individuals with Mild Cognitive Impairment (MCI).
Alzheimer's disease is a common condition affecting memory and thinking. Genes can sometimes be used to provide risk estimates for the eventual development of certain common diseases. Apolipoprotein E (APOE) is one gene which can provide information about a person's chances of developing Alzheimer's disease.
Some people with a diagnosis of Mild Cognitive Impairment (MCI) are curious to learn more about the chance of developing Alzheimer's disease. In the REVEAL IV Study, we are examining the psychological and behavioral impact of learning genetic risk information pertaining to the chance for an individual with MCI to progress to dementia of the Alzheimer's type within three years.
Participation in this study requires an initial phone call which will elicit some demographic information about the participant and his or her study partner. A first in-person visit to the research clinic will consist of an education session, the administration of knowledge and attitudinal surveys and some tests to assess memory and thinking skills. This visit will take approximately 2-3 hours. Participants with MCI will have their blood drawn for genetic testing. Participants will then be randomized to one of two groups. Those in the intervention arm will receive a three-year risk estimate for the chance of progressing to dementia of the Alzheimer's type based on age, the diagnosis of MCI and their own APOE gene test result. Those in the comparison arm will receive a three-year risk estimate for the chance of progressing to dementia of the Alzheimer's type based on age and the diagnosis of MCI, without the APOE gene test result. Participants randomized to the comparison arm will have the opportunity to learn their own APOE gene test result at the end of the study. Participants and their study partners will be followed for 6 months following disclosure of results with 1 additional clinic visit and 1 additional phone interviews.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| APOE Genotype Non-Disclosure | Active Comparator | Subjects will receive Alzheimer's disease risk disclosure. This assessment is based on age and MCI status alone. |
|
| APOE Genotype Disclosure | Experimental | Subjects will receive both APOE genotype and Alzheimer's disease risk disclosure. The assessment is based on age, MCI status, and genotype. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| APOE genotype and Alzheimer's disease risk disclosure | Behavioral | Subjects with MCI will learn their own APOE genotype and a three-year numerical risk estimate for the chance of progressing to dementia of the Alzheimer's type. |
| Measure | Description | Time Frame |
|---|---|---|
| Geriatric Depression Scale | A 15-item self-report assessment used to identify depression in the elderly. GDS scores ranged from 0-15. Higher scores indicated greater depression. | Baseline, 6 weeks post-disclosure, and 6 months post-disclosure |
| Mini State Trait Anxiety Inventory | Validated introspective psychological inventory consisting of 6 self-report items pertaining to anxiety affect. Responses are transformed into scores that range from 20 to 80, with higher scores indicating greater anxiety. | Baseline, 6 weeks post-disclosure, and 6 months post-disclosure |
| Measure | Description | Time Frame |
|---|---|---|
| Impact of Event Scale (IES) | The Impact of Event assesses intrusive thoughts and avoidance related to a specific stressful life event. It is a 15-item self-report measure with scores that range from 0 to 75, with greater scores indicating greater distress about the event. | 1-3 Days, 6 Weeks and 6 Months Post-disclosure |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Robert C Green, MD, MPH | Brigham and Women's Hospital/Harvard Medical School | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Howard University | Washington D.C. | District of Columbia | 20060 | United States | ||
| University of Michigan |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 20679636 | Background | Roberts JS, Karlawish JH, Uhlmann WR, Petersen RC, Green RC. Mild cognitive impairment in clinical care: a survey of American Academy of Neurology members. Neurology. 2010 Aug 3;75(5):425-31. doi: 10.1212/WNL.0b013e3181eb5872. | |
| 21696382 | Background | Roberts JS, Christensen KD, Green RC. Using Alzheimer's disease as a model for genetic risk disclosure: implications for personal genomics. Clin Genet. 2011 Nov;80(5):407-14. doi: 10.1111/j.1399-0004.2011.01739.x. Epub 2011 Jul 18. |
| Label | URL |
|---|---|
| Alzheimer's Association - Educational Materials on Mild Cognitive Impairment | View source |
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32 enrolled participants were not assigned for the reasons that follow:
Ineligible (n=7)
Declined to continue (n=17)
Lost to follow-up (n=8)
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| ID | Title | Description |
|---|---|---|
| FG000 | Apolipoprotein E (APOE) Genotype Non-Disclosure | Subjects will receive Alzheimer's disease risk disclosure. This assessment is based on age and MCI status alone. Alzheimer's disease risk disclosure: Subjects with MCI will learn a three-year numerical risk estimate for the chance of progressing to dementia of the Alzheimer's type. |
| FG001 | Apolipoprotein E (APOE) Genotype Disclosure | Subjects will receive both APOE genotype and Alzheimer's disease risk disclosure. The assessment is based on age, MCI status, and genotype. APOE genotype and Alzheimer's disease risk disclosure: Subjects with MCI will learn their own APOE genotype and a three-year numerical risk estimate for the chance of progressing to dementia of the Alzheimer's type. |
| Title | Milestones | Reasons Not Completed | ||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
|
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| ID | Title | Description |
|---|---|---|
| BG000 | APOE Genotype Non-Disclosure | Subjects will receive Alzheimer's disease risk disclosure. This assessment is based on age and MCI status alone. Alzheimer's disease risk disclosure: Subjects with MCI will learn a three-year numerical risk estimate for the chance of progressing to dementia of the Alzheimer's type. |
| BG001 |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Geriatric Depression Scale | A 15-item self-report assessment used to identify depression in the elderly. GDS scores ranged from 0-15. Higher scores indicated greater depression. | Participants who completed the full 15-item scale. | Posted | Mean | Standard Deviation | score on a scale | Baseline, 6 weeks post-disclosure, and 6 months post-disclosure |
|
From enrollment through 6 months after the Alzheimer's disease risk assessment.
Non-serious adverse events were defined as scores at any time including baseline, on psychological outcome scales greater than or equal to 56 on the STAI (anxiety), 8 on the GDS (depression) or 2 on the BHS (hopelessness). Non-serious adverse events were identified at the judgment of study personnel as events that caused inconvenience or concern to participants, but did not qualify as serious. Serious adverse events were defined per guidelines from the National Institutes of Aging.
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | APOE Genotype Non-Disclosure | Subjects will receive Alzheimer's disease risk disclosure. This assessment is based on age and MCI status alone. Alzheimer's disease risk disclosure: Subjects with MCI will learn a three-year numerical risk estimate for the chance of progressing to dementia of the Alzheimer's type. |
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| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Increased monitoring due to high scores on anxiety, depression or hopelessness scales | Psychiatric disorders | Systematic Assessment | Scores at any time point of 56 or higher on the 6-item State-Trait Anxiety Index (STAI), 8 or higher on the 15-item Geriatric Depression Scale (GDS), and 2 or higher on the 4-item Beck Hopelessness Scale (BHS). |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Kurt Christensen, PhD | Brigham and Women's Hospital | (617) 264-5883 | kchristensen@bwh.harvard.edu |
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| ID | Term |
|---|---|
| D060825 | Cognitive Dysfunction |
| D000544 | Alzheimer Disease |
| ID | Term |
|---|---|
| D003072 | Cognition Disorders |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
| D003704 | Dementia |
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| OTHER |
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| Alzheimer's disease risk disclosure | Behavioral | Subjects with MCI will learn a three-year numerical risk estimate for the chance of progressing to dementia of the Alzheimer's type. |
|
| Psychological Impact of Test Disclosure (IGT-AD) |
A 15-item scale measuring distress specific to the test results received. Scores range from 0-75, with higher scores indicating greater test-related distress. Higher scores indicate greater distress about the risk assessment. |
| 6 Weeks and 6 Months Post-disclosure |
| Recall and Comprehension of Risk Information | Several measures to assess participant recall and comprehension of personalized risk information for AD. The sum number correct of the two items that were presented to both randomization arms ("What form of APOE increases risk for Alzheimer's disease?", and "What percentage were you given as your 3-year risk of developing Alzheimer's disease?") are summarized here. | 6 Weeks and 6 Months Post-disclosure |
| Participant Satisfaction | How well participants' expectations about information, explanations, reassurance, advice, and help in decision making were met. Participants rated satisfaction for each dimension on a 1-7 scale, with higher scores indicating that expectations were met better. | 6 Weeks and 6 Months Post-disclosure |
| User Ratings of Risk Assessment Experience | Subjective ratings of the impact of risk assessment. Participants provided ratings on a 1-5 scale, with 1 being "very negative" and 5 being "very positive" | 6 Weeks and 6 Months Post-disclosure |
| Health Behavior and Insurance Changes | AD prevention behaviors enacted within the prior two weeks. | Baseline, 6 weeks post-disclosure, and 6 months post-disclosure |
| Insurance and Advance Planning Changes | A series of yes/no questions that ask whether the risk assessment motivated changes to insurance or advance planning. | 6 months post-disclosure |
| Participation in Alzheimer's Disease-related Research After Receiving the Alzheimer's Disease Risk Estimate. | Yes/no response to the question, "Since receiving your Alzheimer's disease risk estimate, have you joined any other Alzheimer's disease-related research studies?" | 6 weeks and 6 months post-disclosure |
| Ann Arbor |
| Michigan |
| 48109 |
| United States |
| University of Pennsylvania | Philadelphia | Pennsylvania | 19104 | United States |
| 29203084 | Result | Guan Y, Roter DL, Wolff JL, Gitlin LN, Christensen KD, Roberts JS, Green RC, Erby LH. The impact of genetic counselors' use of facilitative strategies on cognitive and emotional processing of genetic risk disclosure for Alzheimer's disease. Patient Educ Couns. 2018 May;101(5):817-823. doi: 10.1016/j.pec.2017.11.019. Epub 2017 Nov 27. |
| 28012682 | Result | Guan Y, Roter DL, Erby LH, Wolff JL, Gitlin LN, Roberts JS, Green RC, Christensen KD. Disclosing genetic risk of Alzheimer's disease to cognitively impaired patients and visit companions: Findings from the REVEAL Study. Patient Educ Couns. 2017 May;100(5):927-935. doi: 10.1016/j.pec.2016.12.005. Epub 2016 Dec 14. |
| Alzheimer's Association - Educational Materials on Risk Factors | View source |
| REVEAL Study overview | View source |
| APOE Genotype Disclosure |
Subjects will receive both APOE genotype and Alzheimer's disease risk disclosure. The assessment is based on age, MCI status, and genotype. APOE genotype and Alzheimer's disease risk disclosure: Subjects with MCI will learn their own APOE genotype and a three-year numerical risk estimate for the chance of progressing to dementia of the Alzheimer's type. |
| BG002 | Total | Total of all reporting groups |
| Participants |
|
| Age, Continuous | Mean | Standard Deviation | years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Ethnicity (NIH/OMB) | Count of Participants | Participants |
|
| Race (NIH/OMB) | Self-identified race | Count of Participants | Participants |
|
| Region of Enrollment | Number | participants |
|
Subjects will receive both APOE genotype and Alzheimer's disease risk disclosure. The assessment is based on age, MCI status, and genotype. APOE genotype and Alzheimer's disease risk disclosure: Subjects with MCI will learn their own APOE genotype and a three-year numerical risk estimate for the chance of progressing to dementia of the Alzheimer's type. |
|
|
| Primary | Mini State Trait Anxiety Inventory | Validated introspective psychological inventory consisting of 6 self-report items pertaining to anxiety affect. Responses are transformed into scores that range from 20 to 80, with higher scores indicating greater anxiety. | Participants who completed the full 6-item scale | Posted | Mean | Standard Deviation | score on a scale | Baseline, 6 weeks post-disclosure, and 6 months post-disclosure |
|
|
|
| Secondary | Impact of Event Scale (IES) | The Impact of Event assesses intrusive thoughts and avoidance related to a specific stressful life event. It is a 15-item self-report measure with scores that range from 0 to 75, with greater scores indicating greater distress about the event. | Participants who completed the full 15-item scale. | Posted | Mean | Standard Deviation | score on a scale | 1-3 Days, 6 Weeks and 6 Months Post-disclosure |
|
|
|
| Secondary | Psychological Impact of Test Disclosure (IGT-AD) | A 15-item scale measuring distress specific to the test results received. Scores range from 0-75, with higher scores indicating greater test-related distress. Higher scores indicate greater distress about the risk assessment. | Participants who completed the full 15-item scale | Posted | Mean | Standard Deviation | score on a scale | 6 Weeks and 6 Months Post-disclosure |
|
|
|
| Secondary | Recall and Comprehension of Risk Information | Several measures to assess participant recall and comprehension of personalized risk information for AD. The sum number correct of the two items that were presented to both randomization arms ("What form of APOE increases risk for Alzheimer's disease?", and "What percentage were you given as your 3-year risk of developing Alzheimer's disease?") are summarized here. | Participants who provided data on each scale. | Posted | Mean | Standard Deviation | score on a scale | 6 Weeks and 6 Months Post-disclosure |
|
|
|
| Secondary | Participant Satisfaction | How well participants' expectations about information, explanations, reassurance, advice, and help in decision making were met. Participants rated satisfaction for each dimension on a 1-7 scale, with higher scores indicating that expectations were met better. | Participants who provided responses on each expectation item | Posted | Mean | Standard Deviation | score on a scale | 6 Weeks and 6 Months Post-disclosure |
|
|
|
| Secondary | User Ratings of Risk Assessment Experience | Subjective ratings of the impact of risk assessment. Participants provided ratings on a 1-5 scale, with 1 being "very negative" and 5 being "very positive" | Participants who completed these items in the post-disclosure surveys. | Posted | Mean | Standard Deviation | score on a scale | 6 Weeks and 6 Months Post-disclosure |
|
|
|
| Secondary | Health Behavior and Insurance Changes | AD prevention behaviors enacted within the prior two weeks. | Participants who provided data on health behaviors at each time point. | Posted | Count of Participants | Participants | Baseline, 6 weeks post-disclosure, and 6 months post-disclosure |
|
|
|
| Secondary | Insurance and Advance Planning Changes | A series of yes/no questions that ask whether the risk assessment motivated changes to insurance or advance planning. | Participants who provided data on the 6-month follow-up survey about these outcomes | Posted | Count of Participants | Participants | 6 months post-disclosure |
|
|
|
| Secondary | Participation in Alzheimer's Disease-related Research After Receiving the Alzheimer's Disease Risk Estimate. | Yes/no response to the question, "Since receiving your Alzheimer's disease risk estimate, have you joined any other Alzheimer's disease-related research studies?" | Participants who provided data on these survey items | Posted | Count of Participants | Participants | 6 weeks and 6 months post-disclosure |
|
|
|
| 0 |
| 39 |
| 0 |
| 39 |
| 16 |
| 39 |
| EG001 | APOE Genotype Disclosure | Subjects will receive both APOE genotype and Alzheimer's disease risk disclosure. The assessment is based on age, MCI status, and genotype. APOE genotype and Alzheimer's disease risk disclosure: Subjects with MCI will learn their own APOE genotype and a three-year numerical risk estimate for the chance of progressing to dementia of the Alzheimer's type. | 0 | 75 | 0 | 75 | 18 | 75 |
|
| Delayed disclosure session | Investigations | Non-systematic Assessment | Extended delay of disclosure of Alzheimer's disease risk assessment |
|
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| D001927 |
| Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D024801 | Tauopathies |
| D019636 | Neurodegenerative Diseases |
| 6 Weeks Post-Disclosure |
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| 6 Months Post-Disclosure |
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| 6 Weeks Post-Disclosure |
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| 6 Months Post-Disclosure |
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| 6 Months Post-Disclosure |
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| 6 Months Post-Disclosure |
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| Explanation: 6 Weeks Post-Disclosure |
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| Reassurance: 6 Weeks Post-Disclosure |
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| Advice: 6 Weeks Post-Disclosure |
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| Help in decision making: 6 Weeks Post-Disclosure |
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| Information: 6 Months Post-Disclosure |
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| Explanation: 6 Months Post-Disclosure |
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| Reassurance: 6 Months Post-Disclosure |
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| Advice: 6 Months Post-Disclosure |
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| Help in decision making: 6 Months Post-Disclosure |
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| 6 Months Post-Disclosure |
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| Baseline: Physical activity |
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| Baseline: Dietary supplements |
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| Baseline: Mental activities |
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| Baseline: Stress management |
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| Baseline: Medications |
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| 6 Weeks post-disclosure: Diet |
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| 6 Weeks post-disclosure: Physical activity |
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| 6 Weeks post-disclosure: Dietary supplements |
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| 6 Weeks post-disclosure: Mental activities |
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| 6 Weeks post-disclosure: Stress management |
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| 6 Weeks post-disclosure: Medications |
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| 6 Months post-disclosure: Diet |
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| 6 Months post-disclosure: Physical activity |
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| 6 Months post-disclosure: Dietary supplements |
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| 6 Months post-disclosure: Mental activities |
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| 6 Months post-disclosure: Stress management |
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| 6 Months post-disclosure: Medications |
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| Life insurance change |
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| Short-term disability insurance change |
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| Long-term disability insurance |
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| Long-term care insurance |
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| Change to will |
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| Change to living will |
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| Change to durable power of attorney |
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| 6 Months post-disclosure |
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