NCT05750667: NHLBI-R33

Penn Family Screening for Familial Hypercholesterolemia

ENROLLING BY INVITATION NA Last updated 9 February 2026

What this trial tests

NA trial testing Cascade screening in Familial Hypercholesterolemia in 800 participants. Enrolling by invitation.

Timeline

24 January 2023

Primary endpoint
28 February 2027

28 February 2027

Quick facts

Lead sponsor	Northwestern University
Phase	NA
Status	ENROLLING BY INVITATION
Study type	INTERVENTIONAL
Allocation	randomized
Design	parallel
Masking	none
Primary purpose	health services research
Enrollment	800
Start date	24 January 2023
Primary completion	28 February 2027
Estimated completion	28 February 2027
Sites	1 location across United States

Drugs / interventions tested

• Cascade screening

Conditions studied

• Familial Hypercholesterolemia — all drugs for Familial Hypercholesterolemia →

Sponsor

Northwestern University

Who can join

18 and older, any sex, with Familial Hypercholesterolemia. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

1. Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial.
   Johnson C, Chen J, McGowan MP, Tricou E, et al · · 2024 · cited 3× · PMID 38594685 · DOI 10.1186/s13012-024-01355-x