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If a child from the Healthy Hearts and Minds education and screening program is found to have a genetic marker for familial hyperlipidemia (FH), immediate family members are offered genetic testing at no charge to identify those at high risk for cardiovascular disorders and those who carry the genetic markers. If identified early, the risk for cardiovascular disease can be greatly modified by early and proper treatment.
The aim of the study is to gauge the impact of large-scale surveillance testing to identify those with the disorder and improve clinical care. This impact is both in disease prevention and in lessening the cost of long-term care from premature cardiovascular disease.
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| Measure | Description | Time Frame |
|---|---|---|
| Familial Hypercholesterolemia (FH) Determination for Family Members of School Children With Elevated Cholesterol and Documented FH Variant | Individuals with elevated cholesterol group with familial hypercholesterolemia genotype. | The duration of participation in study is one day. |
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Inclusion Criteria:
* Primary family member of child from school screening program with documented familial hyperlipidemia (FH) variant
Exclusion Criteria:
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As above
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Medical Center of the Rockies | Loveland | Colorado | 80528 | United States |
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| ID | Title | Description |
|---|---|---|
| FG000 | Observational Registry Cohort | If a child from the Healthy Hearts and Minds education and screening program is found to have a genetic marker for familial hyperlipidemia, immediate family members are offered genetic testing at no charge to identify those at high risk for cardiovascular disorders and those who carry the genetic markers. If identified early, the risk for cardiovascular disease can be greatly modified by early and proper treatment. The aim of the study is to gauge the impact of large-scale surveillance testing to identify those with the disorder and improve clinical care. This impact is both in disease prevention and in lessening the cost of long-term care from premature cardiovascular disease. Family members of children identified in the Health Hearts screening program were enrolled in this study; Children in the Healthy Hearts screening program were enrolled in NCT05767996 |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
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| ID | Title | Description |
|---|---|---|
| BG000 | Observational Registry Cohort | The aim of the study is to identify children and families that are at risk for cardiovascular disease because of a condition known as familial hyperlipidemia. This condition may increase the risk of cardiac events such as hardening of the arteries anywhere in the body which can result in heart attacks, strokes, and death over ten fold. Children have already been assessed in the Healthy Hearts screening program and identified as having elevated cholesterol. A buccal smear will identify whether the familial hyperlipidemia condition exist in your child. If the child's test shows that they have the specific gene for familial hyperlipidemia and shows a genetic tendency towards premature heart disease, we would encourage genetic testing for as many blood family members as possible. The study plan is to determine whether the Healthy Hearts screening program is a more effective way of identifying students at risk since it is estimated that less than 10% of those individuals with the problem have been identified. If it is effective, then it will be incorporated as part of the standard screening process in the Healthy Hearts program. |
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| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
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| 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 | Familial Hypercholesterolemia (FH) Determination for Family Members of School Children With Elevated Cholesterol and Documented FH Variant | Individuals with elevated cholesterol group with familial hypercholesterolemia genotype. | Individuals with elevated cholesterol group with familial hypercholesterolemia genotype. Not enough subjects participating to allow statistical analysis. | Posted | Number | participants | The duration of participation in study is one day. |
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There were no adverse events reported during the study from February 17, 2023 (time open to accrual) to May 29, 2025 (time closed to accrual). The only contact with participants was at enrollment so duration was 1 day.
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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 | Adverse Events | There were no adverse events reported during the study. | 0 |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Gary J Luckasen, MD | UCHealth | 970-624-1680 | gary.luckasen@uchealth.org |
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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 | Mar 2, 2023 | Oct 7, 2025 | Prot_SAP_000.pdf |
| ICF | No | No | Yes | Informed Consent Form | Jan 17, 2023 | Sep 10, 2025 | ICF_001.pdf |
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| Participants |
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| Region of Enrollment | Number | participants |
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| 11 |
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| 11 |
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