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| ID | Type | Description | Link |
|---|---|---|---|
| R21HG010412 | U.S. NIH Grant/Contract | View source |
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Unable to obtain all survey data due to COVID delay
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| Name | Class |
|---|---|
| National Human Genome Research Institute (NHGRI) | NIH |
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The objectives of the protocol are to: (1) evaluate the uptake of cascade screening and preventative therapies after the implementation of a simplified screening process and (2) assess proband and family member perspectives about the return of research results and cascade screening for the KCNQ1 Thr224Met variant. The investigators will conduct a mixed methods study in the Old Order Amish community where the KCNQ1 variant is enriched over 100,000-fold compared to other populations. The intervention will offer free, mail-in, saliva-based genetic testing for family members of probands. The rate of uptake of testing and preventative therapy after the intervention is implemented (i.e. when 'simplified' free, mail-in, saliva-based testing was available) will be compared to data from before the intervention (i.e. when 'traditional' $50 blood-based testing was available to family members) when uptake was essentially zero. The primary outcome is the rate of uptake of cascade screening with the intervention ('simplified'). The secondary outcomes include: extent of disclosure of genotype results before and after the intervention, proportion of informed relatives who get screened before and after the intervention, and the uptake of appropriate preventative care (e.g. seeing a cardiologist and/or taking beta-blocker). The tertiary outcomes are demographic characteristics associated with uptake of cascade screening or uptake of preventative therapy. The investigators will also assess qualitative themes surrounding the return of results process and cascade screening using interviews.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Simplified Cascade Screening | Experimental | Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Simplified Cascade Screening | Genetic | Screening of the KCNQ1 Thr224Met variant for family members of probands |
|
| Measure | Description | Time Frame |
|---|---|---|
| Percentage of At-risk Family Members Who Underwent Cascade Screening | Rate of uptake of cascade screening after the intervention ('simplified') | 18 months |
| Measure | Description | Time Frame |
|---|---|---|
| Extent of Disclosure Determined by Questionnaire | proportion of family members told after the intervention ('simplified') | 18 months |
| Number of Informed Relatives Screened Determined by Questionnaire |
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Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Maryland Amish Research Clinic | Lancaster | Pennsylvania | 17602 | United States |
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| ID | Title | Description |
|---|---|---|
| FG000 | Simplified Cascade Screening | Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant. Simplified Cascade Screening: Screening of the KCNQ1 Thr224Met variant for family members of probands |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Simplified Cascade Screening | Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant. Simplified Cascade Screening: Screening of the KCNQ1 Thr224Met variant for family members of probands |
| 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 | Percentage of At-risk Family Members Who Underwent Cascade Screening | Rate of uptake of cascade screening after the intervention ('simplified') | 809 family members were eligible to be screened and were considered at-risk. | Posted | Count of Participants | Participants | 18 months |
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Adverse events were obtained at the time of saliva sample collection.
Adverse events were obtained at the time of enrollment when saliva samples were collected. All other study procedures were surveys.
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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 | Simplified Cascade Screening | Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant. Simplified Cascade Screening: Screening of the KCNQ1 Thr224Met variant for family members of probands |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr. Amber Beitelshees | University of Maryland Baltimore | 410-706-0118 | abeitels@som.umaryland.edu |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP | Yes | Yes | No | Study Protocol and Statistical Analysis Plan | Jul 14, 2022 | Jul 19, 2022 | Prot_SAP_000.pdf |
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| ID | Term |
|---|---|
| D008133 | Long QT Syndrome |
| ID | Term |
|---|---|
| D001145 | Arrhythmias, Cardiac |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D000075224 | Cardiac Conduction System Disease |
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Number of informed family members tested after the intervention ('simplified')
| 18 months |
| Number of Participants With an Uptake of Preventative Therapy as Determined by Questionnaire | Uptake of preventative therapy was defined as those taking a beta-blocker if recommended or those who implemented lifestyle modifications if beta-blocker not recommended. The survey was mailed to all probands. | 18 months |
| Participants |
|
| Age, Continuous | Mean | Standard Deviation | years |
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| Sex: Female, Male | Count of Participants | Participants |
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| Race (NIH/OMB) | Count of Participants | Participants |
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| Region of Enrollment | Number | participants |
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| Secondary | Extent of Disclosure Determined by Questionnaire | proportion of family members told after the intervention ('simplified') | Because of COVID, too much time had passed since we had originally contacted the probands and we did not think we could get reliable data on how many family members they had told after the intervention. Thus, these data were not collected. During the COVID pandemic we had to switch gears and warn people with LQTS about the risks of QT-prolongation with chloroquine, hydroxychloroquine, and azithromycin. | Posted | 18 months |
|
|
| Secondary | Number of Informed Relatives Screened Determined by Questionnaire | Number of informed family members tested after the intervention ('simplified') | Number of family members tested of those mailed letters. The overall number of participants analyzed differs from the number in the Participant Flow Module because it represents the number of family members who were mailed letters whereas the participant flow module includes individuals who consented for testing. These numbers are not related to each other because we didn't mail letters to children, although children were eligible for testing. | Posted | Count of Participants | Participants | 18 months |
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| Secondary | Number of Participants With an Uptake of Preventative Therapy as Determined by Questionnaire | Uptake of preventative therapy was defined as those taking a beta-blocker if recommended or those who implemented lifestyle modifications if beta-blocker not recommended. The survey was mailed to all probands. | We analyzed the number of survey responses obtained for the questions on beta-blocker therapy and lifestyle modifications which is why the numbers are different than those reported in the participant flow module. | Posted | Count of Participants | Participants | 18 months |
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| 0 |
| 131 |
| 0 |
| 131 |
| 0 |
| 131 |
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| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |