An interventional study of Cascade Screening in Familial Hypercholesterolemia, sponsored by Northwestern University. Not yet recruiting at 1 site in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-11-05.
Sponsored by Northwestern University · Not applicable, Interventional, and Health services research
The goal of this clinical trial is to test two implementation strategies (digital strategy vs. care navigator strategy) 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 approaches on reach (proportion of probands who have at least one family member who completes screening), number of family members screened, proband engagement with the study, and proband LDL-C levels; and (2) use mixed methods to identify implementation strategy mechanisms. Participants (probands) will receive messaging that provides education about FH and provides instructions for participating in family cascade screening. A subset of participants will be invited to complete a qualitative interview about their experience receiving the implementation strategy. The research team will compare the arms to evaluate their effectiveness at promoting cascade screening.
The study will test two patient-facing implementation strategies to increase reach of cascade screening with FH probands within Penn Medicine via a 2-arm hybrid type III effectiveness-implementation randomized controlled trial (RCT). This pragmatic RCT will test (a) a digital strategy using automated text messages and emails and (b) a care navigator strategy. Both strategies were designed using insights from behavioral economics.
Aim 1: Compare the effect of the study arms on implementation and effectiveness outcomes: reach (primary outcome), or proportion of probands who have at least one family member who completes screening; absolute number of family members screened; proband engagement with the study; and proband LDL-C levels.
Aim 2: Use mixed methods to identify implementation strategy mechanisms. Aim 2a: Conduct interviews to understand proband perspectives using the Consolidated Framework for Implementation Research. Aim 2b: Explore differential strategy effectiveness quantitatively and descriptively.
249 studies on the registry are indexed under Hyperlipoproteinemia Type II; 56 are open to participants now.
This study's planned enrollment of 110 is below the median of 134 across 178 interventional studies indexed under Hyperlipoproteinemia Type II.
Browse Hyperlipoproteinemia Type II studies →Northwestern University is the lead sponsor of 1,423 studies on the registry; 198 are open to participants now.
Of its 105 completed or terminated interventional studies of FDA-regulated products, 78 (74%) have results posted.
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Exclusion criteria:
Probands receive automated text messages and/or emails from Penn Medicine containing information about FH and cascade screening and a request to share educational materials (provided by the study) with their relatives. All relatives will be offered FH screening at no cost. Probands will receive reminders to contact their relatives and behavioral economics-informed tips to encourage completion.
Behavioral: Cascade Screening
A Penn Medicine-based care navigator will reach out to probands. 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 the relative join a call with the proband and navigator. Those who choose self-contact receive personalized coaching to address barriers and concerns. All relatives 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.
Behavioral: Cascade Screening
FH is a genetic condition that causes very high LDL cholesterol. 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.
Reach
The proportion of eligible probands (i.e., Penn Medicine patients diagnosed with familial hypercholesterolemia or "FH") who have at least one relative who is screened for FH within 6 months of the proband's randomization date. We define 'completed screening' as (a) relatives sharing lipid panel results and completing a results consultation call with a study clinician. This information is documented by the study clinician during the call in REDCap; or (b) proband self-report of their relatives' completion of screening for FH.
Time frame: Collected from proband randomization date through six months post-randomization
Absolute number of family members who are screened for FH as a result of cascade screening
The number of relatives who complete screening, collected via the same approaches as we are using for our primary outcome of reach (i.e., as described above)
Time frame: Collected from proband randomization date through six months post-randomization
Proband engagement
The proportion of probands who respond to at least one outreach attempt at any point after positive identity confirmation
Time frame: Collected from proband randomization date through six months post-randomization
Proband LDL-C
Proband LDL-C on a lipid panel completed between 11 and 13 months after proband randomization, as extracted from the electronic health record
Time frame: 11-13 months post-proband randomization
Plan to share: Undecided
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Hyperlipoproteinemia Type II →