Cascade Testing In Identifying At-risk Family Members Of Individuals With Familial Hypercholesterolemia (FH) In PCP

NCT07653555 | Not Yet Recruiting

• 1 other identifier: 26-001620
• Study Type: interventional
• Target: 480
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to evaluate the effectiveness of two models of cascade testing in identifying at-risk family members of individuals diagnosed with familial hypercholesterolemia (FH).

Conditions

Familial Hypercholesterolemia

Outcome Measures

Primary Outcomes (1)

• Genetic testing among first- and second-degree relatives within 12 months of index patient enrollment

  Defined as total number of relations to complete CLIA-certified FH test (LDLR, APOB, PCSK9, LDLRAP1) with result returned to the primary care research team.

  2 year

Secondary Outcomes (6)

• Number of newly diagnosed FH cases among relatives

  2 years

• Time from index patient enrollment (Tapestry identified participants) and diagnosis (REP identified and FH genetic test confirmation) to relative testing

  2 years

• Time from relative diagnosis to treatment initiation

  2 years

• Communication modality preference

  2 years

• Referral completion (genetics, cardiology, preventive cardiology) within 6 months of positive result

  2 years

Study Arms (2)

Usual Care

ACTIVE COMPARATOR

Patients will receive standard of care support

Other: Standard of Care

Structured Outreach

EXPERIMENTAL

Patients and relatives will receive outreach in the form of direct or indirect contact

Other: Cascade testing

Interventions

Cascade testing OTHER

Patient relatives will be contacted either directly or indirectly per patient preference: The indirect contact method provides patients with structured Mayo approved educational materials to support the index patient in accurate and consistent communication with relatives. Relatives have the option to contact the study team for cascade genetic testing. The direct contact method provides patients with a letter inviting relatives to contact the study team. After contact, relatives are offered educational materials and the opportunity for cascade genetic testing.

Structured Outreach

Standard of Care OTHER

No structured outreach is provided to patient or family members. Relatives may have their primary care provider refer them to genetic counseling services for cascade testing coordination.

Usual Care

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Index Patients:
• Age ≥ 18 years.
• Confirmed FH diagnosis using Dutch Lipid Clinic Network criteria \*or\* genetic confirmation.
• Identified through REP or Tapestry databases.
• Able and willing to provide informed consent.
• At least one eligible first- or second-degree relative.
• Access to and active use of email (computer literacy requirement).
• Relatives:
• First- or second-degree relative of an enrolled index patient.
• Age ≥ 1 year (minors require parental consent + assent).
• Willing to participate and able to complete electronic consent (guardian-assisted if minor).
• Access to and active use of email (guardian).

You may not qualify if:

• Index Patients:
• No confirmed FH diagnosis.
• Insufficient clinical follow-up (\<5 years).
• No identifiable or contactable relatives.
• Prior participation in structured cascade testing.
• Severe cognitive impairment preventing informed consent.
• Relatives:
• Prior participation in structured cascade testing.
• Severe cognitive impairment preventing informed consent.

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic in Rochester

Rochester, Minnesota, 55905, United States

Location

Related Links

• Mayo Clinic Clinical Trials

MeSH Terms

Conditions

Hyperlipoproteinemia Type II

Interventions

Standard of Care

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Quality Indicators, Health Care; Quality of Health Care; Health Services Administration; Health Care Quality, Access, and Evaluation

Study Officials

• Elisa J. Houwink, MD, PhD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Family Medicine Research Study Coordinators

CONTACT

507-422-6823; RSTFMSC@mayo.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: June 2, 2026
• First Posted: June 17, 2026
• Study Start (Estimated): June 20, 2026
• Primary Completion (Estimated): June 20, 2028
• Study Completion (Estimated): September 20, 2029
• Last Updated: June 17, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)