Finding family members at risk for inherited high cholesterol and Long QT heart rhythm problems
Official title: Comparing Direct and Indirect Methods for Cascade Screening in Familial Hypercholesterolemia (FH) and Long QT Syndrome (LQTS)
Funded at University of Maryland Baltimore · NIH-11097301 · Data updated 2026-11-12
This project compares contacting relatives directly versus asking patients to tell family members to find people at risk for familial hypercholesterolemia (FH) and Long QT syndrome (LQTS), focusing on Amish communities where two actionable genetic variants are common.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Maryland Baltimore NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | June 1, 2022 |
| Project end | May 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $696,129 |
| NIH project number | 5R01HL163514-04 |
| Project ID | NIH-11097301 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are first-degree relatives of someone identified as carrying the APOB Arg3527Gln or KCNQ1 Met224Thr variants, especially members of the participating Amish communities.
✕Less likely to help
People without family ties to a carrier, those outside the participating communities, or those who do not carry the specific variants are unlikely to receive direct benefit from this project.
What this research studies
If you or a family member carries a genetic change linked to FH or LQTS, this project will compare two ways of notifying relatives: the research team contacting them directly or giving information to you to share. Relatives who are contacted may be offered genetic testing for two specific variants (KCNQ1 Met224Thr for LQTS and APOB Arg3527Gln for FH) that are more common in certain Amish communities. People will be randomly assigned to one of the contact approaches so the team can compare how many relatives get tested, accept follow-up care, and what ethical concerns arise. The goal is to find the safest, most acceptable way to reach at-risk family members so they can get early monitoring or treatment.
Why it matters
Potential benefit: If successful, the project could help more at-risk relatives be identified earlier so they can begin monitoring or treatment to reduce heart attack or arrhythmia risk.
How similar studies have gone: Cascade screening and direct-contact approaches have shown promise in other countries, but rigorous randomized comparisons in U.S. communities like the Amish are limited.
Where this research is happening
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University of Maryland Baltimore
Baltimore, United States Active
Researchers
- Principal investigator: Beitelshees, Amber L — University of Maryland Baltimore
- Study coordinator: Beitelshees, Amber L
Related research
Other NIH-funded projects on the same topics.
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Using behavioral nudges to improve family screening for inherited high cholesterol
This project uses two patient-facing approaches based on behavioral economics to help people with familial hypercholesterolemia get their relatives screened for the condition.
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Improving Risk Stratification for Familial Hypercholesterolemia (FH)
A patient-facing look at a study that aims to better predict who with familial hypercholesterolemia is at highest risk for early heart disease.
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A new approach uses nonviral methods to deliver CRISPR-Cas9 to liver cells and select edited cells with acetaminophen, aiming to permanently lower bad cholesterol in people with familial hypercholesterolemia.
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Implementing multi-component approaches to help blood donors with familial hypercholesterolemia(
A program to help people who donate blood and have familial hypercholesterolemia get the cholesterol-lowering treatment they need through a blood-donation center.
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Helping families find and treat inherited high cholesterol
This project tests a clinic-based program to help primary care doctors find and treat children and adults with inherited high cholesterol (familial hypercholesterolemia).
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Familial hypercholesterolemia: closing gaps in prevention of heart disease
A new NIH grant is exploring why people with familial hypercholesterolemia often go undiagnosed or receive uneven care, with the goal of improving early detection and prevention of heart disease.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.