Case Report: Lack of Response to Givosiran in a Case of ALAD Porphyria
Frontiers in Genetics, 2022 Introduction: 5-Aminolevulinic acid dehydratase (ALAD) porphyria (ADP) is an autosomal recessive disease characterized by a profound deficiency in ALAD, the second enzyme in the heme biosynthetic pathway, and acute neurovisceral attacks with abdominal ...
Erica Graff +3 more
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Elevated homocysteine is negatively correlated with plasma cystathionine β‐synthase activity in givosiran‐treated patients [PDF]
JIMD ReportsGivosiran is a subcutaneously administered, liver‐targeted RNA interference (RNAi) therapeutic that has been approved for treating acute hepatic porphyria (AHP).
Mark A. Keibler +3 more
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Molecular Genetics and Metabolism Reports, 2023 A 39-year-old woman with biochemically and clinically active acute intermittent porphyria (AIP) developed moderately severe liver injury after receiving her second dose of givosiran.
Christopher D
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Efficacy and safety of givosiran in Japanese patients with acute hepatic porphyria: clinical findings from an expanded access study [PDF]
Scientific ReportsAcute hepatic porphyria (AHP), a rare genetic disorder, causes life-threatening porphyria attacks and chronic pain and impairs daily functioning and quality of life. Recently, a new siRNA therapy, givosiran, became available for AHP.
Nobuaki Ozaki +6 more
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Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran [PDF]
Molecular Genetics and Metabolism ReportsIntroduction: For patients with acute intermittent porphyria (AIP), a true attack could be difficult to distinguish from chronic abdominal pain. This study focused on treatment responses from two patients with confirmed elevated biochemical data (delta ...
Hung-Chou Kuo +5 more
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Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study [PDF]
Molecular Genetics and Metabolism ReportsBackground: Acute hepatic porphyria (AHP) is characterized by debilitating and potentially life-threatening neurovisceral attacks, possible chronic symptoms, and long-term complications.
Hetanshi Naik +3 more
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Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation [PDF]
Molecular Genetics and Metabolism ReportsAcute hepatic porphyrias (AHPs) are a family of rare, autosomal, dominantly inherited conditions characterized by abnormalities in the production of heme.
Claudio Carmine Guida +8 more
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Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study [PDF]
Orphanet Journal of Rare DiseasesBackground Acute hepatic porphyria is a group of multisystem disorders of which acute intermittent porphyria is the most common subtype. Givosiran, a subcutaneously administered RNA interference therapeutic targeting liver ALAS mRNA, is approved for ...
Eliane Sardh +6 more
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Drug Design, Development and Therapy, 2022 Chaudry Nasir Majeed,1 Christopher D Ma,2 Ted Xiao,3 Sean Rudnick,1 Herbert L Bonkovsky1 1Department of Internal Medicine, Section on Gastroenterology and Hepatology, Wake Forest School of Medicine, Winston-Salem, NC, USA; 2Wake Forest University School ...
Christopher D
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Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review [PDF]
Molecular Genetics and Metabolism ReportsAcute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment
Isabelle Redonnet-Vernhet +11 more
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