Development, opportunities, and challenges of siRNA nucleic acid drugs [PDF]
Molecular Therapy: Nucleic AcidsSmall interfering RNA (siRNA) drugs were first proposed in 1999. They have reached the market for administration to patients after more than 20 years of development.
Bowen Xiao +9 more
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Terapias farmacológicas basadas en el ARN de interferencia: Eteplirsen, Givosiran y Pegaptanib [PDF]
, 2022 Los fármacos basadas en la tecnología del ARN de interferencia consisten en silenciar la expresión de genes sobre los que actúan. Esta tecnología se presenta como prometedora en el tratamiento etiológico de distintas enfermedades.
Fraile Rodríguez, Andrea
core +4 more sources
PB2559: VARIEGATE PORPHYRIA CONFIRMED BY NGS AND TREATED WITH GIVOSIRAN - CASE PRESENTATION [PDF]
HemaSphere, 2023 Georgeta Daniela Georgescu
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Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic <i>HMBS</i> Variants: A Case Report. [PDF]
JIMD RepABSTRACT Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A,
Clark J +6 more
europepmc +2 more sources
Hematology, Transfusion and Cell Therapy, 2021 Introduction: Acute hepatic porphyria (AHP) is a family of rare genetic diseases due to enzyme defects in hepatic heme biosynthesis. ENVISION is an ongoing phase 3 study, evaluating efficacy and safety of givosiran in symptomatic AHP patients. Objective:
D Kuter +9 more
doaj +1 more source
Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION study [PDF]
, 2021 Background & Aims Upregulation of hepatic delta-aminolevulinic acid synthase 1 with accumulation of potentially toxic heme precursors delta-aminolevulinic acid and porphobilinogen is fundamental to the pathogenesis of acute hepatic porphyria.
Bruce Ritchie +16 more
core +1 more source
CPT: Pharmacometrics & Systems Pharmacology, 2023 Givosiran, an RNA interference‐based therapeutic, is a recent addition to the limited treatment armamentarium for acute hepatic porphyria (AHP). As a small interfering RNA that is selectively taken up in the liver, both the mechanism and targeted ...
Jongtae Lee +2 more
doaj +1 more source
Endothelial Dysfunction in Acute Hepatic Porphyrias [PDF]
, 2022 Background Acute hepatic porphyrias (AHPs) are a group of rare diseases caused by dysfunctions in the pathway of heme biosynthesis. Although acute neurovisceral attacks are the most dramatic manifestations, patients are at risk of developing long-term ...
Andrea Ricci +8 more
core +1 more source
Iron Metabolism in the Disorders of Heme Biosynthesis [PDF]
, 2022 Given its remarkable property to easily switch between different oxidative states, iron is essential in countless cellular functions which involve redox reactions.
Andrea Ricci +5 more
core +1 more source
German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran [PDF]
Journal of Clinical MedicineThomas Stauch +2 more
exaly +2 more sources