An observational study in Familial Hypercholesterolemia, sponsored by Mayo Clinic. Completed. Open to participants aged 18 Years to 70 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2022-09-27.
Sponsored by Mayo Clinic · Observational
This is a genomic implementation project with ancillary studies to understand the impact on patients' health and well-being of returning genomic results to them and depositing those results in the medical record.
Study participant DNA samples will be sequenced for 109 genes of interest along with genotyping of select polymorphisms. Genetic tests will be performed in a Clinical Laboratory Improvement Amendments (CLIA) certified lab (Baylor Human Genome Sequencing Laboratory). Selected results (pathogenic/likely pathogenic) will be returned to participants by a genetic counselor and deposited into the Electronic Health Record (EHR).
245 studies on the registry are indexed under Hyperlipoproteinemia Type II; 52 are open to participants now.
This study's enrollment of 418 is below the median of 743 across 66 observational studies indexed under Hyperlipoproteinemia Type II.
Browse Hyperlipoproteinemia Type II studies →Mayo Clinic is the lead sponsor of 3,218 studies on the registry; 670 are open to participants now.
Of its 445 completed or terminated interventional studies of FDA-regulated products, 313 (70%) have results posted.
Counted across the registry records on this site, refreshed daily.
We recruited 3030 participants from Mayo Clinic biobanks in Rochester, MN, who had hypercholesterolemia, colon polyps or both, thereby enriching for FH.
Exclusion Criteria:
Participant utilization of clinical resources following the return of medically actionable genetic variants.
The EHR of study participants will be periodically reviewed beginning 6 months following the disclosure of results. EHR documented utilization of clinical resources by participants (e.g. lipid profile for cholesterol measurement, mammogram, colonoscopy, prophylactic surgery, etc.) will be reviewed to assess whether the disclosure of actionable genetic findings led to initiation of medical therapy or ordering of additional tests. Data will be manually abstracted into condition-specific REDCap questionnaires which are harmonized across multiple eMERGE Network sites.
Time frame: Feb 2016-June 2020
The number of new cases detected as a result of cascade screening in the family members
This outcome is being assessed as a supplemental study that includes patients with definite, probable and possible Familial Hypercholesterolemia (FH). We will compare the yield of cascade screening in FH patients with and without an identifiable pathogenic variant. We will enroll 50 patients with definite FH by recruiting an additional 25 from the FH Clinic at Mayo and 50 patients each with probable and possible FH, matching on age and sex. Family members of patients with definite FH will undergo testing for the relevant pathogenic variant using saliva kits and family members of those with probable/possible FH will have a lipid profile checked. We will assess the number of new cases detected (defined as presence of a pathogenic variant in the family member of definite FH patient or LDL-C \>155 mg/dL (\>130 mg/dL in children) in family members of probable/possible FH patients, and the cost of detecting a new case.
Time frame: Feb 2017- Dec 2020
Total Expense due to disclosure of actionable variants
The EHR will be periodically reviewed after disclosure of results to assess whether the disclosure led to initiation of medical therapy or ordering of additional tests. Measured in U.S. dollars.
Time frame: 4 years
Participant intent-to-share genetic test results
Participants are offered pre-and-post-counseling questionnaires, provide pedigree information, and family member contact information. Questionnaires include measures of intent-to-share and barriers to sharing genetic results.
Time frame: Sept 2017-June 2020
Number of first-degree relatives per proband and number of contacted first-degree relatives per proband
The number of first-degree relatives will be assessed using patient-provided family history information. The number of contacted family members will be assessed by measuring family member response to participant contact materials.
Time frame: Sept 2017-Dec 2020
Family member uptake of genetic testing
Family member respondents who provide consent will be offered genetic testing. The uptake of genetic testing will be documented for each family member.
Time frame: Sept 2017- Dec 2020
No study locations are listed for this record.
This study is completed, as verified in Sep 2022. You cannot join it, but the record below documents what was studied.
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