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| Name | Class |
|---|---|
| The Familial Hypercholesterolemia Foundation | OTHER |
| Lancaster General Hospital | OTHER |
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The purpose of this study is to validate the use of the FH Foundation FIND FH® Algorithm as a clinical decision support tool. FIND FH (Flag/Identify/Network/Engage) is a national initiative that utilizes machine learning and data mining techniques to identify individuals whose profiles are consistent with FH patients. The algorithm will be tested in adults with at least one cardiovascular comorbidity. Study subjects will be asked to provide either a saliva, buccal or venous blood sample for DNA and biomarker analysis
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Strata 0-0.05 | Lowest probability of having familial hypercholesterolemia |
| |
| Strata 0.06-0.15 | Second lowest probability of having familial hypercholesterolemia |
| |
| Strata 0.16-0.19 | Moderate probability of having familial hypercholesterolemia |
| |
| Strata 0.20-0.34 | Second highest probability of having familial hypercholesterolemia |
| |
| Strata greater than or equal to 35 | Highest probability of having familial hypercholesterolemia |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic testing | Other | Targeted next-generation sequencing for familial hypercholesterolemia causative mutations |
|
| Measure | Description | Time Frame |
|---|---|---|
| Likelihood of having FH-causing mutation | Proportion of subjects with causative mutation in higher algorithm score groups | 12 months |
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Inclusion Criteria:
Exclusion Criteria:
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Randomly selected patients from University of Pennsylvania and Lancaster General Hospital with at least 1 cardiovascular comorbidity seen at hospital within the past five years.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Lancaster General Hospital | Lancaster | Pennsylvania | 17602 | United States | ||
| University of Pennsylvania |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 34617591 | Derived | Qureshi N, Da Silva MLR, Abdul-Hamid H, Weng SF, Kai J, Leonardi-Bee J. Strategies for screening for familial hypercholesterolaemia in primary care and other community settings. Cochrane Database Syst Rev. 2021 Oct 7;10(10):CD012985. doi: 10.1002/14651858.CD012985.pub2. |
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De-identified data will be shared with other investigators
De-identified data will be shared at end of study after database lock
Research team
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| ID | Term |
|---|---|
| D006938 | Hyperlipoproteinemia Type II |
| ID | Term |
|---|---|
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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| Philadelphia |
| Pennsylvania |
| 19104 |
| United States |
| D006951 | Hyperlipoproteinemias |
| D006949 | Hyperlipidemias |
| D050171 | Dyslipidemias |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |