Fazirsiran for Liver Disease Associated with Alpha1-Antitrypsin Deficiency

Severe AAT deficiency is caused by a mutation in SERPINA1 , which encodes AAT. Mutant AAT protein accumulates in the liver and can lead to liver disease. This phase 2 trial of an agent targeting SERPINA1 messenger RNA showed a reduction in levels of mutant AAT protein in affected persons.

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Bibliographische Detailangaben
Veröffentlicht in:	The New England journal of medicine 2022-08, Vol.387 (6), p.514-524
Hauptverfasser:	Strnad, Pavel, Mandorfer, Mattias, Choudhury, Gourab, Griffiths, William, Trautwein, Christian, Loomba, Rohit, Schluep, Thomas, Chang, Ting, Yi, Min, Given, Bruce D., Hamilton, James C., San Martin, Javier, Teckman, Jeffery H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adverse events Biomarkers Biopsy Chromatography Dyspnea Endoplasmic reticulum Enzymes Fibrosis Gastroenterology Gene expression Genetics Genetics General Genotypes Heart diseases Hepatocytes Hypothesis testing Inflammation Liquid chromatography Liver Disease Liver diseases Mass spectrometry Mass spectroscopy Mutation Myocarditis Patients Pharmacodynamics Proteinase inhibitors Respiration RNA-mediated interference Scientific imaging Vestibular system
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Beschreibung
Zusammenfassung:	Severe AAT deficiency is caused by a mutation in SERPINA1 , which encodes AAT. Mutant AAT protein accumulates in the liver and can lead to liver disease. This phase 2 trial of an agent targeting SERPINA1 messenger RNA showed a reduction in levels of mutant AAT protein in affected persons.
ISSN:	0028-4793 1533-4406
DOI:	10.1056/NEJMoa2205416