Introduction: Hypercholesterolemia is mainly caused by abnormal lipoprotein metabolism and can increase the risk of cardiovascular disease. Angiopoietin-like protein 3 (ANGPTL3) can increase low-density lipoprotein cholesterol (LDL-C) and other lipids by inhibiting lipoprotein lipase activity. Evinacumab is a monoclonal antibody against ANGPTL3, it can decrease levels of LDL-C and has shown potential benefit in patients with homozygous familial hypercholesterolemia (HoFH).
Areas Covered: A comprehensive literature search was conducted in PubMed (January 2000 to August 2021). Key search terms included ANGPTL3, evinacumab and HoFH. Other sources were derived from product labeling and ClinicalTrials.gov. All English-language articles identified from the data sources were reviewed and evaluated. Phase 1, 2 and 3 clinical trials were included. The pharmacological characteristics, clinical evidence, and safety of evinacumab were reviewed.
Expert Opinion: Evinacumab is an ANGPTL3 inhibitor. Phase 3 clinical trials found that in patients with HoFH, evinacumab reduced LDL-C by 47%, but placebo increased by 2%. Evinacumab was well-tolerated. Common adverse events included nasopharyngitis, influenza-like illness, dizziness, rhinorrhea, and nausea. It has the potential to become a valuable treatment option for patients with HoFH.
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http://dx.doi.org/10.1080/17512433.2022.2047934 | DOI Listing |
Neurol Genet
December 2024
From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.
Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of the gene-the Finnish founder variant (FINmaj).
View Article and Find Full Text PDFHemoglobin
January 2025
Department of Biomedical and Science Therapeutic, Faculty of Medicine and Health Sciences, Universiti Malaysia Sabah, Kota Kinabalu, Malaysia.
Sabah has the highest prevalence of β-thalassemia in Malaysia, with the Filipino β-deletion as the predominant mutation. Patients with the homozygous Filipino β-deletion exhibit phenotypic heterogeneity due to various genetic modifiers, yet the effects of these modifiers on the clinical phenotype remain poorly understood. This study investigated the effects of the coinheritance of α-thalassemia, I-γ rs7482144, rs766432, and 5'HS4 rs16912979 polymorphisms on the clinical phenotype of homozygous Filipino β-deletion patients in Sabah.
View Article and Find Full Text PDFNeurogenetics
January 2025
Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, 50603, Malaysia.
Intermediate CAG repeats from 29 to 33 in the ATXN2 gene contributes to the risk of amyotrophic lateral sclerosis (ALS) in European and Asian populations. In this study, 148 ALS patients of multiethnic descent: Chinese (56.1%), Malay (24.
View Article and Find Full Text PDFMonoclon Antib Immunodiagn Immunother
January 2025
Department of Immunology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan.
CD300a and CD300A, among the CD300 immunoglobulin (Ig)-like receptor family members in mice and humans, respectively, are expressed on myeloid cell lineage. The interaction of CD300a and CD300A with their ligands phosphatidylserine and phosphatidylethanolamine, respectively, exposed on the plasma membrane of dead cells mediate an inhibitory signal in myeloid cells. We previously reported that a neutralizing antimouse CD300a monoclonal antibody (mAb) enhanced efferocytosis by macrophages and ameliorated acute ischemic stroke (AIS) in mice.
View Article and Find Full Text PDFIntroduction: Structural variants (SVs) of the nebulin gene ( ), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular disorders. Large deletions have been shown to cause dominantly inherited distal myopathies. Here we provide an overview of 35 families with muscle disorders caused by such SVs in .
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