Results 11 to 20 of about 1,115 (145)

Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study [PDF]

Molecular Genetics and Metabolism Reports
Background: Acute hepatic porphyria (AHP) is characterized by debilitating and potentially life-threatening neurovisceral attacks, possible chronic symptoms, and long-term complications.
Hetanshi Naik, Michelle Brown, Stephen Meninger, Stephen Lombardelli   +3 more
doaj   +2 more sources

A computational model-powered platform to inform the development of GalNAc-conjugated siRNA therapeutics [PDF]

Molecular Therapy: Nucleic Acids
N-acetylgalactosamine-conjugated small interfering RNA (GalNAc-siRNA) therapeutics have emerged as a groundbreaking modality with unparalleled efficacy for battling previously “undruggable” diseases.
Xiaoqing Fan, Ying Xiao, Kangna Cao, Ruijie Zhang, Xiaoyu Yan   +4 more
doaj   +2 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 ...
Petro Petrides, Paolo Ventura
exaly   +4 more sources

Advanced Management of Acute Intermittent Porphyria: The Role of Givosiran Therapy in Improving Long‐Term Outcomes‐A Case Study

Clinical Case Reports
Acute intermittent porphyria is a rare disorder causing neurotoxic precursor accumulation and severe neurological complications. We report a case progressing to tetraplegia and respiratory failure with delayed diagnosis.
Natália Rebeca Alves deAraújo Karpejany, Jose Tiburcio doMonte Neto, Ester Miranda Pereira, Isabel Andrea Ferreira Carvalho, Rafael Melo Santos deSerpa Brandão, Adalberto Socorro daSilva, Tiberio Silva Borges dosSantos, Semiramis Jamil Hadad doMonte   +7 more
doaj   +2 more sources

Givosiran for the Treatment of Pediatric Acute Intermittent Porphyria. [PDF]

J Pediatr Hematol Oncol
Acute intermittent porphyria (AIP) causes neurovisceral symptoms and organ toxicity resulting in acute and chronic health conditions. Treatment has traditionally involved avoiding triggers and utilizing carbohydrates and hemin infusions for acute attacks. Givosiran, an FDA-approved small interfering RNA, has shown benefit in adults in reducing attacks.
Bujold KE, Kasher N, McKiernan C.
europepmc   +4 more sources

A randomized, placebo-controlled study of givosiran in patients with acute hepatic porphyrias (ENVISION): Final (36-month) analysis of the Taiwan Cohort

Journal of the Formosan Medical Association
Background/purpose: Acute hepatic porphyrias (AHP) are rare genetic disorders associated with acute neurovisceral attacks and chronic symptoms.
Ming-Jen Lee, Hung-Chou Kuo
exaly   +3 more sources

Givosiran: a targeted treatment for acute intermittent porphyria. [PDF]

Hematology Am Soc Hematol Educ Program
Abstract The acute hepatic porphyrias (AHPs) are a family of rare genetic diseases associated with attacks of abdominal pain, vomiting, weakness, neuropathy, and other neurovisceral symptoms. Pathogenic variants in 1 of 4 enzymes of heme synthesis are necessary for the development of AHP, and the onset of acute attacks also requires the ...
Dickey AK, Leaf RK.
europepmc   +3 more sources

Successful Pregnancy After Combined Liver and Renal Transplantation in a Patient With Acute Intermittent Porphyria [PDF]

Case Reports in Transplantation
Acute intermittent porphyria is a rare inborn disease of porphyrin metabolism which can cause severe abdominal pain attacks and neurological symptoms. Here, we report a patient with a 20-year history of severe chronic manifestations of acute intermittent
Petro E. Petrides, Joachim Andrassy, Markus Guba, Manfred Stangl, Olivia Bronisch, Maria K. Beykirch   +5 more
doaj   +2 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.
, Jerzy Windyga, Manisha Balwani
exaly   +4 more sources

Small RNA or oligonucleotide drugs and challenges in evaluating drug-drug interactions [PDF]

Frontiers in Pharmacology
Small RNA or oligonucleotide therapeutics represent a unique modality outside the traditional treatment paradigm of small molecule and protein-based drugs that have historically only targeted a small fraction of the proteome.
Joseph M. Cronin, Ai-Ming Yu
doaj   +2 more sources