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      Inclisiran for the Treatment of Heterozygous Familial Hypercholesterolemia

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          Abstract

          Familial hypercholesterolemia is characterized by an elevated level of low-density lipoprotein (LDL) cholesterol and an increased risk of premature atherosclerotic cardiovascular disease. Monoclonal antibodies directed against proprotein convertase subtilisin-kexin type 9 (PCSK9) have been shown to reduce LDL cholesterol levels by more than 50% but require administration every 2 to 4 weeks. In a phase 2 trial, a twice-yearly injection of inclisiran, a small interfering RNA, was shown to inhibit hepatic synthesis of PCSK9 in adults with heterozygous familial hypercholesterolemia.

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          Familial hypercholesterolaemia

          Joep Defesche, Samuel S Gidding, Mariko Harada-Shiba … (2017)
          Article 0 comments Cited 143 times – based on 0 reviews     Review now
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            Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

            Javier Ortega, Almudena Amor-Salamanca, Pablo García-Pavía … (2017)
            Article 0 comments Cited 52 times – based on 0 reviews     Review now
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              ClinVar database of global familial hypercholesterolemia‐associated DNA variants

              Michael Iacocca, Joana R. Chora, Alain Carrié … (2018)
              Accurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine for improved patient care. An essential requirement for achieving standardized and reliable variant interpretation is data sharing, facilitated by a centralized open-source database. Familial hypercholesterolemia (FH) is an exemplar of the utility of such a resource: it has a high incidence, a favorable prognosis with early intervention and treatment, and cascade screening can be offered to families if a causative variant is identified. ClinVar, an NCBI-funded resource, has become the primary repository for clinically relevant variants in Mendelian disease, including FH. Here, we present the concerted efforts made by the Clinical Genome Resource, through the FH Variant Curation Expert Panel and global FH community, to increase submission of FH-associated variants into ClinVar. Variant-level data was categorized by submitter, variant characteristics, classification method and available supporting data. To further reform interpretation of FH-associated variants, areas for improvement in variant submissions were identified and addressed; these include a need for more detailed submissions and submission of supporting variant-level data, both retrospectively and prospectively. Collaborating to provide thorough, reliable evidence-based variant interpretation will ultimately improve the care of FH patients.
              Article 0 comments Cited 37 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Title: New England Journal of Medicine
                Abbreviated Title: N Engl J Med
                Publisher: Massachusetts Medical Society
                ISSN (Print): 0028-4793
                ISSN (Electronic): 1533-4406
                Publication date (Electronic): March 18 2020
                Affiliations
                [1 ]From the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa (F.J.R.); the Medicines Company, Zurich, Switzerland (D.K.); the Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, Imperial College, London (K.K.R.); Medpace Reference Laboratories, Cincinnati (T.T.); Deutsches Herzzentrum München, Technische Universität München, and German Center for Cardiovascular Research, Munich Heart Alliance, Munich (W.K.), and the...
                Article
                DOI: 10.1056/NEJMoa1913805
                PubMed ID: 32197277
                SO-VID: 78d86f9a-06a9-46ee-8b89-0f9acd673604
                Copyright © © 2020
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