Results 21 to 30 of about 1,115 (145)

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report [PDF]

Journal of Medical Case Reports
Background Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms.
Gabriel Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, Martin Häusler   +6 more
doaj   +2 more sources

A Comparison of Currently Approved Small Interfering RNA (siRNA) Medications to Alternative Treatments by Costs, Indications, and Medicaid Coverage [PDF]

Pharmacy
Small interfering RNA (siRNA)-based medications offer the ability to target previously undruggable targets and have now received FDA approval in five instances for orphan or uncommon diseases.
Inder Sehgal, Kevin Eells, Imani Hudson
doaj   +2 more sources

Hereditary Coproporphyria in Which the Patient's Course Improved after the Discontinuation of Givosiran. [PDF]

Intern Med
Hereditary coproporphyria (HCP) is caused by a partial deficiency of coproporphyrinogen oxidase during heme biosynthesis. Givosiran is approved for the treatment of acute hepatic porphyria. We herein report the case of a 47-year-old woman with HCP. Monthly givosiran administration improved her subjective symptoms and reduced her δ-aminolevulinic acid ...
Ozaki N, Hayashi Y, Kiyota A.
europepmc   +3 more sources

EIGHTEEN-MONTH INTERIM ANALYSIS OF EFFICACY AND SAFETY OF GIVOSIRAN, AN RNAI THERAPEUTIC FOR ACUTE HEPATIC PORPHYRIA, IN THE ENVISION OPEN LABEL EXTENSION

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, S Keel, C Parker, DC Rees, U Stölzel, P Ventura, M Balwani, L Gouya, S Rhyee, S Silver   +9 more
doaj   +1 more source

Pharmacokinetic‐pharmacodynamic model of urinary δ‐aminolevulinic acid reduction after givosiran treatment in patients with acute hepatic porphyria

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, Megan Melch, Gabriel J. Robbie   +2 more
doaj   +1 more source

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 Rep
ABSTRACT 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, Smith J, Leong Y, Cronin V, Winship I, Ross G, Fazio T.   +6 more
europepmc   +2 more sources

Acute intermittent porphyria, givosiran, and homocysteine

Journal of Inherited Metabolic Disease, 2021
Acute intermittent porphyria (AIP) is a rare genetic metabolic disease caused by a specific enzyme dysfunction in the hepatic heme biosynthesis pathway. Besides the obvious clinical relevance of a disease in which patients are at risk of acute life-threatening neurovisceral attacks, the study of this disorder is of particular interest because it can ...
Antonio Fontanellas, Matías A. Ávila, Elena Arranz, Rafael Enríquez de Salamanca, Montserrat Morales‐Conejo   +4 more
openaire   +4 more sources

German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran [PDF]

Journal of Clinical Medicine
Thomas Stauch, Ilja Kubisch, Eva Diehl-Wiesenecker   +2 more
exaly   +2 more sources

Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study

Orphanet Journal of Rare Diseases, 2022
Background Acute hepatic porphyria (AHP) is a family of four rare genetic diseases, each involving deficiency in a hepatic heme biosynthetic enzyme. Resultant overproduction of the neurotoxic intermediates δ-aminolevulinic acid (ALA) and porphobilinogen (
Bruce Wang, Paolo Ventura, Kei-ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T. Sweetser, Manisha Balwani   +8 more
doaj   +1 more source

Acute Intermittent Porphyria Triggered by COVID-19 Mimicking Guillain-Barré Syndrome: A Diagnostic Challenge. [PDF]

Clin Case Rep
ABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Sadeghi P, Ghahvechi Akbari M, Hassani SA, Alimadadi H, Heidari M, Ziaee V.   +5 more
europepmc   +2 more sources