0000000001179952

AUTHOR

A. Maurizio

showing 3 related works from this author

Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia

2023

Introduction: Lomitapide is a microsomal triglyceride transfer protein inhibitor for patients with homozygous familial hypercholesterolaemia. Due to its mechanism of action, potential hepatic effects of lomitapide are of clinical interest. This study aimed to determine the long-term hepatic safety of lomitapide. Methods: Data were aggregated from the pivotal phase 3 and extension phase clinical trial with lomitapide (median 5.1 years; serum total bilirubin, transaminases, cytokeratin-18 [CK-18] and enhanced liver fibrosis [ELF] score, fat-soluble vitamins and essential fatty acids), 8-year data from the Lomitapide Observational Worldwide Evaluation Registry (LOWER) and real-world evidence f…

Settore MED/09 - Medicina Internahepatic steatosisliverLomitapidehepatic biomarkershepatic steatosiSettore BIO/18 - Geneticahepatic biomarkerSettore BIO/14 - Farmacologialiver fibrosis.hepatichepatic; hepatic biomarkers; hepatic steatosis; homozygous familial hypercholesterolaemia; liver; liver fibrosis; lomitapidehomozygous familial hypercholesterolaemialiver fibrosis
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THE REFERENCE SITE COLLABORATIVE NETWORK OF THE EUROPEAN INNOVATION PARTNERSHIP ON ACTIVE AND HEALTHY AGEING

2019

International audience; Seventy four Reference Sites of the European Innovation Partnership on Active and Healthy Ageing (EIP on AHA) have been recognised by the European Commission in 2016 for their commitment to excellence in investing and scaling up innovative solutions for active and healthy ageing. The Reference Site Collaborative Network (RSCN) brings together the EIP on AHA Reference Sites awarded by the European Commission, and Candidate Reference Sites into a single forum. The overarching goals are to promote cooperation, share and transfer good practice and solutions in the development and scaling up of health and care strategies, policies and service delivery models, while at the…

Active and healthy ageing; DG CONNECT; DG Santé; EIP on AHA; European Innovation Partnership on Active and Healthy AgeingAllergic RhinitisOperational DefinitionEIP on AHAProgramTurkeyActive and healthy ageing; European Innovation Partnership on Active and Healthy Ageing; EIP on AHA; DG CONNECT; DG Sante[SDV]Life Sciences [q-bio]EipActive and healthy ageingDG SanteDG CONNECTDiseasesArticles03 medical and health sciences0302 clinical medicineEuropean Innovation Partnership on Active and Healthy AgeingSynergies030228 respiratory systemDG SantéAhaSettore MED/42030212 general & internal medicineComputingMilieux_MISCELLANEOUS
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Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial…

2022

: Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) wer…

MaleAdultMultifactorial InheritanceSettore MED/09 - Medicina Internafamilial hypercholesterolemia; molecular diagnosis; polygenic risk score; Adult; Cholesterol LDL; Female; Humans; Middle Aged; Multifactorial Inheritance; Mutation; Gene Regulatory Networks; Hyperlipoproteinemia Type IIfamilial hypercholesterolemiaCholesterol LDLMiddle AgedLDLHyperlipoproteinemia Type IICholesterolmolecular diagnosispolygenic risk scoreMutationHumansFemaleGene Regulatory Networksmolecular diagnosifamilial hypercholesterolemia; molecular diagnosis; polygenic risk score
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