Arrowhead doses first patient in Part B of Phase I trial of ARC-AAT to treat AATD

US-based Arrowhead Research has dosed the first patient in Part B of a Phase I clinical trial of its RNAi-based drug candidate ARC-AAT to treat liver disease associated with the rare genetic disorder alpha-1 antitrypsin deficiency (AATD).
Source: Drug Development Technology - Category: Pharmaceuticals Source Type: news

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This article describes hereditary hemochromatosis, Gilbert syndrome, alpha-1 antitrypsin deficiency, Wilson disease, PFIC, BRIC, and LAL-D. The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency causes both lung and liver disease. Wilson disease can cause neurologic disease and liver disease. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis are rare causes of cholestasis. LAL-D is a rare disease that can appear similar to NAFLD in adults. PMID: 3...
Source: The Medical Clinics of North America - Category: General Medicine Authors: Tags: Med Clin North Am Source Type: research
We would like to congratulate Clark et al. for their pioneering work characterizing histological liver injury in patients with the classic severe alpha-1 antitrypsin (AAT) deficiency (genotype Pi*ZZ).1 The Pi*ZZ genotype is seen in 1:3,000 Caucasians and the associated liver disease is greatly understudied despite the fact that it is more frequent than several well-established liver disorders such as autoimmune hepatitis or primary sclerosing cholangitis.2,3 While Clark et al. greatly enhanced our understanding of the clinical, biochemical and histological liver phenotype of these individuals, we would like to further disc...
Source: Journal of Hepatology - Category: Gastroenterology Authors: Tags: Letter to the Editor Source Type: research
This article describes hereditary hemochromatosis, Gilbert syndrome, alpha-1 antitrypsin deficiency, Wilson disease, PFIC, BRIC, and LAL-D. The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency causes both lung and liver disease. Wilson disease can cause neurologic disease and liver disease. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis are rare causes of cholestasis. LAL-D is a rare disease that can appear similar to NAFLD in adults.
Source: Medical Clinics of North America - Category: Primary Care Authors: Source Type: research
EchoSens creates non-invasive liver diagnosis medical devices. The company’s line of products, called FibroScan, work by measuring the speed of ultrasound waves as they move through liver tissue. This measurement can tell us about the state of ...
Source: Medgadget - Category: Medical Devices Authors: Tags: Diagnostics Exclusive GI Medicine Source Type: blogs
Authors: Pye A, Turner AM Abstract Introduction Alpha-1 antitrypsin deficiency (AATD) is most often associated with chronic lung disease, early onset emphysema and liver disease. The standard of care in lung disease due to AATD is alpha-1 antitrypsin augmentation but there are several new and emerging treatment options under investigation for both lung and liver manifestations. Areas covered We review therapeutic approaches to lung and liver disease in alpha-1 antitrypsin deficiency (AATD) and the agents in clinical development according to their mode of action. The focus is on products in clinical trials, but data...
Source: Expert Opinion on Investigational Drugs - Category: Drugs & Pharmacology Tags: Expert Opin Investig Drugs Source Type: research
ConclusionsWe confirmed the genetic diagnosis of mevalonic aciduria caused by MVK deficiency which had been masked by liver disease and the possible misdiagnosis of alpha-1-antitrypsin deficiency.
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
CONCLUSIONS: We confirmed the genetic diagnosis of mevalonic aciduria caused by MVK deficiency which had been masked by liver disease and the possible misdiagnosis of alpha-1-antitrypsin deficiency. PMID: 31430439 [PubMed - as supplied by publisher]
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Tags: Clin Chim Acta Source Type: research
Alpha 1 Antitrypsin (AAT) is a key serum proteinase inhibitor encoded by SERPINA1. Sequence variants of the gene can cause Alpha 1 Antitrypsin Deficiency (AATD), a condition associated with lung and liver disease...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research
Conclusion: Our data reveal molecular epigenetic signatures within this mutationally homogeneous group that point to ways to stratify patients for liver disease risk.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Methylation profiling by array Homo sapiens Source Type: research
Alpha-1 antitrypsin deficiency (AATD) is among the most common genetic disorders. Severe AATD is caused by a homozygous mutation in the SERPINA1 gene that encodes the Glu342Lys substitution (called the Pi*Z mutation, Pi*ZZ genotype). Pi*ZZ carriers may develop lung and liver diseases. Mutation-associated lung disorders have been well studied, but less is known about the effects in liver. We assessed the liver disease burden and associated features in adults with this form of AATD.
Source: Gastroenterology - Category: Gastroenterology Authors: Tags: Original Research Source Type: research
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