Familial Hypercholesterolemia News and Research

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One-time gene editing cuts LDL cholesterol in early hypercholesterolemia trial

A phase 1 NEJM interim analysis found that a single infusion of the investigational base-editing therapy VERVE-102 produced dose-dependent reductions in circulating PCSK9 protein and LDL cholesterol in adults with heterozygous familial hypercholesterolemia or premature coronary artery disease.

26 May 2026

Evolocumab trial could reshape how doctors treat high-risk cholesterol patients

A new ACC/AHA dyslipidemia guideline and editorial argue that guideline development is rigorous but can lag behind fast-moving science, using the VESALIUS-CV trial as a clear example. The trial showed that intensive LDL cholesterol lowering with evolocumab reduced cardiovascular events in high-risk patients without prior heart attack or stroke, with implications for future guideline updates.

6 Apr 2026

Updated heart guidelines urge earlier screening for high blood cholesterol

For the first time since 2018, a clinical guideline from the American College of Cardiology and the American Heart Association for screening and managing blood cholesterol levels has been updated and jointly published in the Journal of the American College of Cardiology and Circulation.

27 Mar 2026

Genomic screening uncovers hidden cancer and heart disease risk in young adults

A nationwide Australian pilot screened more than 10,000 adults aged 18–40 years for high-risk genetic variants linked to hereditary cancer and familial hypercholesterolaemia, identifying clinically actionable findings in about 2% of participants.

19 Jan 2026

Monash experts urge funding for national genomic screening to prevent disease

Leading genomic health experts from Monash University are calling for urgent government funding to progress the development of a national preventive genomic testing program that would save thousands of Australians from conditions like cancer and heart disease.

16 Jan 2026

Rethinking Mendelian assumptions in inherited retinal degenerations

A new study challenges what's long been assumed about genetic variants thought to always cause inherited blindness.

22 Dec 2025

Study finds major gaps in cholesterol management among adults with cardiovascular disease

The Family Heart Foundation, a leading research and advocacy organization, published new research in the American Journal of Preventive Cardiology revealing significant gaps in cholesterol management during 2022-23 among U.S. adults with atherosclerotic cardiovascular disease (ASCVD).

3 Dec 2025

Current genetic screening guidelines overlook most cases of familial hypercholesterolemia

Current genetic screening guidelines fail to identify most people with an inherited condition known as familial hypercholesterolemia that can cause dangerously high cholesterol and early heart disease, a Mayo Clinic study found.

19 Nov 2025

One-time CRISPR therapy safely lowers cholesterol and triglycerides in early trial

In a 15-patient, Phase 1 one, first-in-human trial, a one-time, CRISPR-Cas9 gene-editing therapy safely reduced LDL cholesterol and triglycerides in people with difficult-to-treat lipid disorders, according to a preliminary late-breaking science presentation today at the American Heart Association's Scientific Sessions 2025.

10 Nov 2025

Exploring cost-effective approaches to detecting familial hypercholesterolemia in children

In the United States, one in every 250 people has inherited a genetic variant that leads to dangerously high cholesterol levels from birth.

10 Nov 2025

Breakthrough study maps impact of thousands of variants in heart disease gene

An international research consortium co-led by scientists from Vanderbilt University Medical Center, the University of Toronto and University of Pittsburgh has mapped the functional impact of more than 17,000 variants in a major gene associated with the development of premature atherosclerotic heart disease.

31 Oct 2025

First-of-its-kind resource created to identify people with genetic risk for elevated 'bad' cholesterol

An international team led by a University of Pittsburgh School of Medicine scientist has created a first-of-its-kind resource to identify those with a genetic risk for elevated 'bad' cholesterol -- a major contributor to heart disease.

30 Oct 2025

New recommendations aim to identify children with familial hypercholesterolemia

The Family Heart Foundation, a leading research and advocacy organization, announced the online publication of recommendations from a multidisciplinary panel in the Journal of Pediatrics to promote the early identification of children living with familial hypercholesterolemia (FH).

23 Sep 2025

FAU experts recommend high-potency statins to reduce LDL cholesterol

There is broad consensus that the overall body of evidence shows lowering LDL (low-density lipoprotein) cholesterol provides both statistically significant and clinically meaningful benefits in treating and preventing cardiovascular disease.

31 Jul 2025

Cardiologists urged to prioritize potent statins in managing LDL cholesterol

28 Jul 2025

Obicetrapib slashes LDL cholesterol by over 30% in high-risk heart patients

A large multinational trial published in the New England Journal of Medicine shows that obicetrapib significantly lowers LDL cholesterol in high-risk cardiovascular patients. The CETP inhibitor also improved key lipid parameters with no major safety concerns, supporting its role in future combination therapies.

8 May 2025

One shot to lower cholesterol for life? Scientists unlock a groundbreaking gene therapy

Researchers developed an epigenetic editing approach to silence the PCSK9 gene, achieving long-term cholesterol reduction without altering DNA, offering a potential one-time treatment for high cholesterol.

11 Feb 2025

Key to LDL clearance uncovered: Structural details of apoB100-LDLR binding emerge

Researchers reveal the structural details of apoB100's interaction with LDL receptors, offering insights into LDL dimerization and potential treatments for familial hypercholesterolemia.

12 Dec 2024

Experts recommend cascade screening over universal lipid screening for familial hypercholesterolemia

The German Institute for Quality and Efficiency in Health Care (IQWiG) was commissioned by the Federal Joint Committee (G-BA) to assess the benefit of universal blood lipid screening for the early detection of familial hypercholesterolemia in children and adolescents.

21 Nov 2024

Muvalaplin shows promise in lowering Lp(a) levels in clinical trial

A clinical trial testing muvalaplin, a novel oral medication, was able to safely and effectively lower high levels of lipoprotein (a), according to late-breaking science presented today at the American Heart Association's Scientific Sessions 2024.

19 Nov 2024