Results 151 to 160 of about 1,551 (185)
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Givosiran for the treatment of acute hepatic porphyria
Expert Review of Clinical Pharmacology, 2022Acute hepatic porphyrias (AHPs) are a family of rare inherited disorders characterized by enzyme dysfunctions in the hepatic pathway of heme biosynthesis. In AHPs, accumulation of the neurotoxic porphyrin precursors delta-aminolevulinic acid and porphobilinogen, caused by enhanced activity of hepatic aminolevulinate synthase 1 (ALAS1), is associated ...
Andrea Ricci, Paolo Ventura
exaly +4 more sources
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria
New England Journal of Medicine, 2020 Up-regulation of hepatic delta-aminolevulinic acid synthase 1 (ALAS1), with resultant accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen, is central to the pathogenesis of acute attacks and chronic symptoms in acute hepatic porphyria.
Manisha Balwani +2 more
exaly +6 more sources
Drugs, 2020
Givosiran (Givlaari™) is an aminolevulinate synthase 1 (ALAS1)-directed small interfering RNA (siRNA) covalently linked to a ligand to enable specific delivery of the siRNA to hepatocytes. This results in downregulation of ALAS1 mRNA and prevents accumulation of neurotoxic δ-aminolevulinic acid and porphobilinogen levels that are associated with acute ...
exaly +3 more sources
Givosiran (Givlaari™) is an aminolevulinate synthase 1 (ALAS1)-directed small interfering RNA (siRNA) covalently linked to a ligand to enable specific delivery of the siRNA to hepatocytes. This results in downregulation of ALAS1 mRNA and prevents accumulation of neurotoxic δ-aminolevulinic acid and porphobilinogen levels that are associated with acute ...
exaly +3 more sources
Givosiran in acute intermittent porphyria: A personalized medicine approach
Molecular Genetics and Metabolism, 2022In patients with acute intermittent porphyria (AIP), induction of delta aminolevulinic acid synthase 1 (ALAS1) leads to haem precursor accumulation that may cause recurring acute attacks. In a recent phase III trial, givosiran significantly reduced the attack rate in severe AIP patients.
Antoine Poli +2 more
exaly +3 more sources
Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran
Expert Review of Gastroenterology and Hepatology, 2022 Homocysteine is a sulfur-containing amino acid formed in the intermediary metabolism of methionine. Amino acid metabolism and heme biosynthesis pathways are complexly intertwined. Plasma homocysteine elevation, hyperhomocysteinemia (HHcy), has been reported in patients with acute hepatic porphyria (AHP), a family of rare genetic disorders caused by ...
Paolo Ventura +2 more
exaly +4 more sources
Givosiran to treat acute porphyria
Drugs of Today, 2021Porphyrias are a family of rare diseases chiefly due to inborn errors of heme biosynthesis. The porphyrias are generally characterized either by the main site of overproduction of heme precursors (hepatic or erythropoietic) or the main clinical manifestations (acute or cutaneous). The regulation of 5- (or δ)-aminolevulinic acid synthase 1 (ALAS1) plays
A, Honor, S R, Rudnick, H L, Bonkovsky
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Givosiran: A Review in Acute Hepatic Porphyria
Drugs, 2021Givosiran (Givlaari®) is an δ-aminolevulinic acid synthase 1 (ALAS1)-directed small interfering RNA (siRNA) approved for the treatment of acute hepatic porphyria (AHP). In the phase 3 ENVISION trial, givosiran significantly reduced the annualized rate of composite porphyria attacks (i.e.
exaly +3 more sources
Givosiran — Running RNA Interference to Fight Porphyria Attacks
New England Journal of Medicine, 2020The porphyrias are a group of rare and ultra-rare devastating disorders of heme biosynthesis. The majority of these disorders are inherited, and patients present with disabling symptoms that have a...
Gloria González Aseguinolaza
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Givosiran, a novel treatment for acute hepatic porphyrias
Expert Review of Precision Medicine and Drug Development, 2020Acute hepatic porphyrias (AHPs) are a group of rare genetic disorders that affect the enzymes of the heme biosynthetic pathway.
Manish Thapar +2 more
openaire +1 more source
Journal of Inherited Metabolic Disease, 2021
AbstractAcute intermittent porphyria (AIP) is a rare metabolic disease caused by mutations within the hydroxymethylbilane synthase gene. Previous studies have reported increased levels of plasma total homocysteine (tHcy) in symptomatic AIP patients. In this study, we present long‐term data for tHcy and related parameters for an AIP patient cohort (n ...
Jordi To‐Figueras +9 more
openaire +2 more sources
AbstractAcute intermittent porphyria (AIP) is a rare metabolic disease caused by mutations within the hydroxymethylbilane synthase gene. Previous studies have reported increased levels of plasma total homocysteine (tHcy) in symptomatic AIP patients. In this study, we present long‐term data for tHcy and related parameters for an AIP patient cohort (n ...
Jordi To‐Figueras +9 more
openaire +2 more sources