PCSK9 targeting therapies for familial hypercholesterolaemia: a meta-analysis of efficacy on lipid biomarkers and safety in adults and children across 23 RCTs

Background Familial hypercholesterolaemia (FH) is a hereditary disorder characterised by elevated low-density lipoprotein cholesterol (LDL-C) levels, substantially increasing the risk of atherosclerotic cardiovascular disease. Proprotein convertase subtilisin/kexin type 9 (PCSK9) targeting therapies...

Full description

Saved in:
Bibliographic Details
Main Authors: Vinh Q T Ho, Nghi Bao Tran, Nhan Nguyen, Giang Son Arrighini, David Downes, Mrunalini Dandamudi, Victoria Zecchin Ferrara, Tri Huynh Quang Ho, Hemank Walia, Alejandro Barbagelata, Thorsten M Leucker, Juliana Giorgi
Format: Article
Language:English
Published: BMJ Publishing Group 2025-08-01
Series:Open Heart
Online Access:https://openheart.bmj.com/content/12/2/e003490.full
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849230111338921984
author Vinh Q T Ho
Nghi Bao Tran
Nhan Nguyen
Giang Son Arrighini
David Downes
Mrunalini Dandamudi
Victoria Zecchin Ferrara
Tri Huynh Quang Ho
Hemank Walia
Alejandro Barbagelata
Thorsten M Leucker
Juliana Giorgi
author_facet Vinh Q T Ho
Nghi Bao Tran
Nhan Nguyen
Giang Son Arrighini
David Downes
Mrunalini Dandamudi
Victoria Zecchin Ferrara
Tri Huynh Quang Ho
Hemank Walia
Alejandro Barbagelata
Thorsten M Leucker
Juliana Giorgi
author_sort Vinh Q T Ho
collection DOAJ
description Background Familial hypercholesterolaemia (FH) is a hereditary disorder characterised by elevated low-density lipoprotein cholesterol (LDL-C) levels, substantially increasing the risk of atherosclerotic cardiovascular disease. Proprotein convertase subtilisin/kexin type 9 (PCSK9) targeting therapies, including monoclonal antibodies and small interfering RNA (siRNA) agents, have emerged as effective lipid lowering therapies.Objective To assess the efficacy and safety of PCSK9-targeting therapy on lipid biomarkers and adverse events in patients with FH, compared with placebo on the background of standard lipid-lowering therapy.Methods A systematic review and meta-analysis were conducted, incorporating data from 23 randomised controlled trials involving adult and paediatric FH patients treated with PCSK9 inhibitors (PCSK9i) or siRNA, including alirocumab, bococizumab, evolocumab, tafolecimab and inclisiran. Eligible studies reported changes in LDL-C, apolipoprotein B (ApoB), lipoprotein a (Lp(a)), triglycerides (TGL) and adverse effects. Pooled mean differences (MDs) and ORs with 95% CIs were calculated using random-effects models, and heterogeneity was assessed with I² statistic. This meta-analysis was registered on PROSPERO (CRD42025631510).Results A total of 4282 patients were included. PCSK9-targeting therapies significantly reduced LDL-C levels compared with control therapies (MD=−46.64%; 95% CI −50.77% to –42.52%; p<0.00001) and TGL (MD=−15.18%; 95% CI –19.34% to –11.03%; p<0.00001). Significant reductions were also observed for ApoB (MD=−34.94%; 95% CI –40.89% to –28.99%; p<0.00001) and Lp(a) (MD=−22.7%; 95% CI −25.95% to –19.44%; p<0.00001). LDL-C, TGL and ApoB reduction were more significant in heterozygous FH patients than in homozygous patients. The safety profile of these therapies was favourable, with adverse event rates comparable to those of the controls.Conclusions PCSK9i and Inclisiran demonstrate significant and sustained reductions in LDL-C, ApoB, Lp(a) and TGL in FH patients, especially in heterozygous FH patients. These agents are generally well-tolerated and represent effective treatment options for FH patients inadequately controlled by standard lipid-lowering therapies.
format Article
id doaj-art-b8ef190699854fa9b0d4f45bf870739e
institution Kabale University
issn 2053-3624
language English
publishDate 2025-08-01
publisher BMJ Publishing Group
record_format Article
series Open Heart
spelling doaj-art-b8ef190699854fa9b0d4f45bf870739e2025-08-21T11:25:13ZengBMJ Publishing GroupOpen Heart2053-36242025-08-0112210.1136/openhrt-2025-003490PCSK9 targeting therapies for familial hypercholesterolaemia: a meta-analysis of efficacy on lipid biomarkers and safety in adults and children across 23 RCTsVinh Q T Ho0Nghi Bao Tran1Nhan Nguyen2Giang Son Arrighini3David Downes4Mrunalini Dandamudi5Victoria Zecchin Ferrara6Tri Huynh Quang Ho7Hemank Walia8Alejandro Barbagelata9Thorsten M Leucker10Juliana Giorgi111 Faculty of Medicine, University of Debrecen, Debrecen, Hungary1 Faculty of Medicine, University of Debrecen, Debrecen, Hungary1 Faculty of Medicine, University of Debrecen, Debrecen, Hungary2 Faculty of Medicine and Surgery, University of Bologna, Bologna, Italy3 Department of Rural Medicine, University of New England, Armidale, New South Wales, Australia4 St Barnabas Health System Bronx, New York, New York, USA5 Faculty of Medicine and Surgery, University of Padova, Padua, Italy6 Surgical Intensive Care Unit, Ho Chi Minh City Heart Institute, Ho Chi Minh City, Vietnam7 Advocate Illinois Masonic Medical Center, Chicago, Illinois, USA8 Universidad Catolica Argentina, Buenos AIres, Argentina10 Johns Hopkins University, Baltimore, Maryland, USA11 Hospital Sirio-Libanes, São Paulo, BrazilBackground Familial hypercholesterolaemia (FH) is a hereditary disorder characterised by elevated low-density lipoprotein cholesterol (LDL-C) levels, substantially increasing the risk of atherosclerotic cardiovascular disease. Proprotein convertase subtilisin/kexin type 9 (PCSK9) targeting therapies, including monoclonal antibodies and small interfering RNA (siRNA) agents, have emerged as effective lipid lowering therapies.Objective To assess the efficacy and safety of PCSK9-targeting therapy on lipid biomarkers and adverse events in patients with FH, compared with placebo on the background of standard lipid-lowering therapy.Methods A systematic review and meta-analysis were conducted, incorporating data from 23 randomised controlled trials involving adult and paediatric FH patients treated with PCSK9 inhibitors (PCSK9i) or siRNA, including alirocumab, bococizumab, evolocumab, tafolecimab and inclisiran. Eligible studies reported changes in LDL-C, apolipoprotein B (ApoB), lipoprotein a (Lp(a)), triglycerides (TGL) and adverse effects. Pooled mean differences (MDs) and ORs with 95% CIs were calculated using random-effects models, and heterogeneity was assessed with I² statistic. This meta-analysis was registered on PROSPERO (CRD42025631510).Results A total of 4282 patients were included. PCSK9-targeting therapies significantly reduced LDL-C levels compared with control therapies (MD=−46.64%; 95% CI −50.77% to –42.52%; p<0.00001) and TGL (MD=−15.18%; 95% CI –19.34% to –11.03%; p<0.00001). Significant reductions were also observed for ApoB (MD=−34.94%; 95% CI –40.89% to –28.99%; p<0.00001) and Lp(a) (MD=−22.7%; 95% CI −25.95% to –19.44%; p<0.00001). LDL-C, TGL and ApoB reduction were more significant in heterozygous FH patients than in homozygous patients. The safety profile of these therapies was favourable, with adverse event rates comparable to those of the controls.Conclusions PCSK9i and Inclisiran demonstrate significant and sustained reductions in LDL-C, ApoB, Lp(a) and TGL in FH patients, especially in heterozygous FH patients. These agents are generally well-tolerated and represent effective treatment options for FH patients inadequately controlled by standard lipid-lowering therapies.https://openheart.bmj.com/content/12/2/e003490.full
spellingShingle Vinh Q T Ho
Nghi Bao Tran
Nhan Nguyen
Giang Son Arrighini
David Downes
Mrunalini Dandamudi
Victoria Zecchin Ferrara
Tri Huynh Quang Ho
Hemank Walia
Alejandro Barbagelata
Thorsten M Leucker
Juliana Giorgi
PCSK9 targeting therapies for familial hypercholesterolaemia: a meta-analysis of efficacy on lipid biomarkers and safety in adults and children across 23 RCTs
Open Heart
title PCSK9 targeting therapies for familial hypercholesterolaemia: a meta-analysis of efficacy on lipid biomarkers and safety in adults and children across 23 RCTs
title_full PCSK9 targeting therapies for familial hypercholesterolaemia: a meta-analysis of efficacy on lipid biomarkers and safety in adults and children across 23 RCTs
title_fullStr PCSK9 targeting therapies for familial hypercholesterolaemia: a meta-analysis of efficacy on lipid biomarkers and safety in adults and children across 23 RCTs
title_full_unstemmed PCSK9 targeting therapies for familial hypercholesterolaemia: a meta-analysis of efficacy on lipid biomarkers and safety in adults and children across 23 RCTs
title_short PCSK9 targeting therapies for familial hypercholesterolaemia: a meta-analysis of efficacy on lipid biomarkers and safety in adults and children across 23 RCTs
title_sort pcsk9 targeting therapies for familial hypercholesterolaemia a meta analysis of efficacy on lipid biomarkers and safety in adults and children across 23 rcts
url https://openheart.bmj.com/content/12/2/e003490.full
work_keys_str_mv AT vinhqtho pcsk9targetingtherapiesforfamilialhypercholesterolaemiaametaanalysisofefficacyonlipidbiomarkersandsafetyinadultsandchildrenacross23rcts
AT nghibaotran pcsk9targetingtherapiesforfamilialhypercholesterolaemiaametaanalysisofefficacyonlipidbiomarkersandsafetyinadultsandchildrenacross23rcts
AT nhannguyen pcsk9targetingtherapiesforfamilialhypercholesterolaemiaametaanalysisofefficacyonlipidbiomarkersandsafetyinadultsandchildrenacross23rcts
AT giangsonarrighini pcsk9targetingtherapiesforfamilialhypercholesterolaemiaametaanalysisofefficacyonlipidbiomarkersandsafetyinadultsandchildrenacross23rcts
AT daviddownes pcsk9targetingtherapiesforfamilialhypercholesterolaemiaametaanalysisofefficacyonlipidbiomarkersandsafetyinadultsandchildrenacross23rcts
AT mrunalinidandamudi pcsk9targetingtherapiesforfamilialhypercholesterolaemiaametaanalysisofefficacyonlipidbiomarkersandsafetyinadultsandchildrenacross23rcts
AT victoriazecchinferrara pcsk9targetingtherapiesforfamilialhypercholesterolaemiaametaanalysisofefficacyonlipidbiomarkersandsafetyinadultsandchildrenacross23rcts
AT trihuynhquangho pcsk9targetingtherapiesforfamilialhypercholesterolaemiaametaanalysisofefficacyonlipidbiomarkersandsafetyinadultsandchildrenacross23rcts
AT hemankwalia pcsk9targetingtherapiesforfamilialhypercholesterolaemiaametaanalysisofefficacyonlipidbiomarkersandsafetyinadultsandchildrenacross23rcts
AT alejandrobarbagelata pcsk9targetingtherapiesforfamilialhypercholesterolaemiaametaanalysisofefficacyonlipidbiomarkersandsafetyinadultsandchildrenacross23rcts
AT thorstenmleucker pcsk9targetingtherapiesforfamilialhypercholesterolaemiaametaanalysisofefficacyonlipidbiomarkersandsafetyinadultsandchildrenacross23rcts
AT julianagiorgi pcsk9targetingtherapiesforfamilialhypercholesterolaemiaametaanalysisofefficacyonlipidbiomarkersandsafetyinadultsandchildrenacross23rcts