Penn Family Screening for Familial Hypercholesterolemia

NCT05750667 | Enrolling By Invitation DMC

• 1 other identifier: SP0078729
• Study Type: interventional
• Target: 800
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this clinical trial is to test two implementation strategies (automated health system \[Penn Medicine\]-mediated strategy vs. Family Heart Foundation-mediated strategy using a patient navigator) versus usual care to promote family cascade screening for familial hypercholesterolemia (FH) in Penn Medicine patients diagnosed with FH ("probands"). The main questions this study aims to answer are: (1) evaluating the effect of the three approaches on reach (proportion of probands who have at least one family member who completes screening), number of family members screened, number of family members diagnosed with FH, and proband LDL-C levels; and (2) identifying implementation strategy mechanisms focusing on health equity using mixed methods and oversampling populations that experience disparities. Participants (probands) in the active arms (health system \[Penn Medicine\]-mediated, Family Heart Foundation-mediated) will receive messaging that provides education about FH and provides instructions for participating in family cascade screening. A subset of probands will be invited to complete a qualitative interview about their experience receiving the implementation strategy. The research team will compare the active arms to Penn Medicine usual care for cascade screening to evaluate whether the active arms are more effective at promoting cascade screening than usual care.

Conditions

Familial Hypercholesterolemia

Keywords

implementation science; behavioral economics; equity; cascade screening

Outcome Measures

Primary Outcomes (1)

• Reach

  Reach is defined as the proportion of probands who have at least one family member who completes screening (via a lipid panel or an FH genetic test) within 6 months of proband randomization. To mimic real world settings, we will allow family members to select how they would like to complete their screening from a range of mechanisms: sharing results from a recent lipid panel, requesting a lipid panel from their primary care provider, or having the study clinician order a lipid panel via LabCorp, a nationwide lab testing company.

  Collected from proband randomization date through six months post-randomization

Secondary Outcomes (3)

• Absolute number of family members who are screened for FH as a result of cascade screening

  Collected from proband randomization date to six months post-randomization

• Absolute number of family members who are newly diagnosed with FH as a result of cascade screening

  Collected from proband randomization date to six months post-randomization

• LDL-C in probands

  One-time collection at 12 months post-randomization

Study Arms (3)

Penn Medicine (health system)-mediated

EXPERIMENTAL

Probands receive automated text messages and/or emails through the Way to Health (WTH) platform containing information about FH and cascade screening from Penn Medicine, and a request to identify first-degree biological relatives. Probands choose whether to contact relatives themselves or share contact information so that automated text messages and/or emails can be sent by Penn Medicine to relatives directly via WTH. If probands opt to contact relatives themselves (self-contact), they receive tips on how to do this effectively. If probands opt for Penn Medicine to contact their relatives (direct contact), relatives receive information via WTH about FH and instructions for screening. All relatives (regardless of whether they were contacted via self-contact and direct contact) will be offered FH screening at no cost. If a proband's initial choice of outreach is not successful, they will have the option of initiating the alternate outreach approach (direct or self-contact).

Behavioral: Cascade screening

Family Heart Foundation-mediated

EXPERIMENTAL

After using WTH to conduct an identity screen and giving probands an option to opt-out of having their information shared with Family Heart Foundation (FHF), FHF reaches out directly to probands via an FHF-employed navigator. During an initial call, the navigator introduces the proband to navigation services, conducts a social history, and initiates a plan for contacting relatives. Probands choose whether to contact relatives themselves (self-contact) or have FHF contact relatives directly (direct contact). Those who choose self-contact receive personalized coaching to address barriers and concerns. For direct contact relatives, FHF will call these relatives directly. All relatives (regardless of whether they were contacted via self-contact and direct contact) will be offered FH screening at no cost. If a proband's initial choice of outreach is not successful, they will have the option of initiating the alternate outreach approach (direct or self-contact).

Behavioral: Cascade screening

Usual Care

NO INTERVENTION

Probands randomized to this arm will not receive any contact from the research team or Family Heart Foundation regarding cascade screening (i.e., no intervention).

Interventions

Cascade screening BEHAVIORAL

FH is a genetic condition that causes high LDL cholesterol starting at birth. When one individual with FH is diagnosed, it is important that biological family members are also screened, since there is a 50% chance that each first-degree relative will have also inherited FH. More distant relatives may also have inherited FH. This evidence-based process is known as cascade screening.

Family Heart Foundation-mediated; Penn Medicine (health system)-mediated

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Adults aged 18 years and older with clinically diagnosed FH who are treated within the Penn Medicine system
• Have contact information for at least one living, first-degree biological relative
• Have a cell phone with texting capabilities and/or access to email

You may not qualify if:

• People under age 18
• Do not have contact information for at least one living, first-degree biological relative
• Do not have a cell phone with texting capabilities nor access to email

Sponsors & Collaborators

• Northwestern University: lead
• University of Pennsylvania: collaborator
• Family Heart Foundation: collaborator

Study Sites (1)

University of Pennsylvania, Perelman School of Medicine

Philadelphia, Pennsylvania, 19104, United States

Location

Related Publications (1)

• Johnson C, Chen J, McGowan MP, Tricou E, Card M, Pettit AR, Klaiman T, Rader DJ, Volpp KG, Beidas RS. Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial. Implement Sci. 2024 Apr 9;19(1):30. doi: 10.1186/s13012-024-01355-x.

  PMID: 38594685 DERIVED

MeSH Terms

Conditions

Hyperlipoproteinemia Type II

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

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Ralph Seal Paffenbarger Professor and Chair, Department of Medical Social Sciences

Model Details: Probands will be randomized to one of the two active implementation strategy arms (Penn Medicine, Family Heart Foundation; n=220 each) or usual care (n=360).

Study Record Dates

• First Submitted: February 15, 2023
• First Posted: March 2, 2023
• Study Start: January 24, 2023
• Primary Completion (Estimated): February 28, 2027
• Study Completion (Estimated): February 28, 2027
• Last Updated: February 9, 2026

Record last verified: 2026-02

Locations

US (1)