Novel First-in-class Agent Shows Promise in Wilson's Disease Novel First-in-class Agent Shows Promise in Wilson's Disease

In patients with Wilson ’ s disease, once-daily oral treatment with bis-choline tetrathiomolybdate rapidly lowered free copper levels, which correlated with reduced disability, improved neurological status, and stable liver function in an open-label phase 2 study.Reuters Health Information
Source: Medscape Transplantation Headlines - Category: Transplant Surgery Tags: Gastroenterology News Source Type: news

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Authors: Prasad D, Bhriguvanshi A Abstract Liver and eyes are interlinked to each other in various medical conditions. There are certain ocular findings which directly indicate specific liver disorders. Thus, it becomes critical to identify disorders of liver and eyes early in the course of illness, so that prompt management may be initiated before the commencement of complications. It is highly advantageous in metabolic liver disorders as it offers prognostic value and spares the patient of unnecessary invasive and detailed work up. However, due to its silent and heterogeneous presentation, it is often unrecognize...
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
is a rare progressive genetic disorder of copper metabolism associated with hepatolenticular degeneration. Left untreated, it results in severe disability and death. The diagnosis is very easily overlooked but, if discovered early, effective treatments are available to prevent or reverse many manifestations of this disorder. The role of copper in disease pathogenesis, coupled with clinical, biochemical and genetic markers, is pivotal to establishing a clear diagnosis. Medical therapy involves chelating agents (e.g.
Source: Medicine - Category: Internal Medicine Authors: Tags: Metabolic liver disease Source Type: research
Abstract Cystic fibrosis (CF) and Wilson disease (WD) are two monogenetic, recessively inherited lethal pathologies that are caused by ionic disequilibria. CF results from loss-of-function mutations in CF transmembrane conductance regulator (CFTR), a channel that conducts chloride across epithelial cell membranes, while WD is due to a deficiency of ATPase copper transporting beta (ATP7B), a plasma membrane protein that pumps out copper from cells. Recent evidence suggests that both diseases are linked to perturbations in autophagy. CFTR deficiency causes an inhibition of autophagic flux, thus locking respiratory e...
Source: Aging - Category: Biomedical Science Authors: Tags: Aging (Albany NY) Source Type: research
This article reviews the literature on WTX101 (bis-choline tetrathiomolybdate), an oral first-in-class copper-protein binding agent in development for the treatment of Wilson disease. Expert opinion: In a proof-of-concept phase II trial, once-daily WTX101 over 24 weeks rapidly lowered NCC levels and this was accompanied by improved neurological status without apparent initial drug-induced paradoxical worsening, reduced disability, stable liver function, with a favourable safety profile. WTX101 directly removes excess copper from intracellular hepatic copper stores and also forms an inert tripartite complex with copper and ...
Source: Expert Opinion on Investigational Drugs - Category: Drugs & Pharmacology Tags: Expert Opin Investig Drugs Source Type: research
CONCLUSIONS: In Wilson disease, neurologic complications can be severe. The most common complication seen in our patients was tremor. Early diagnosis and treatment may slow down neurologic disability. PMID: 29527989 [PubMed - in process]
Source: Experimental and Clinical Transplantation : official journal of the Middle East Society for Organ Transplantation - Category: Transplant Surgery Authors: Tags: Exp Clin Transplant Source Type: research
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 147 Author(s): Matthew T. Lorincz Copper is a required cofactor for enzymes in critical metabolic pathways. Mutations in copper metabolism genes or abnormalities in copper metabolism result in disease from copper excess or deficiency. Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase. Over 500 different WD mutations throughout the ATP7B gene have been described, most of which are missense mutations. Mutations in both ATP7B alleles result in abnormal copper metabolism and...
Source: Handbook of Clinical Neurology - Category: Neurology Source Type: research
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The gene responsible for WD was discovered in 1993 and is located on chromosome 13 at 13q14.3. It encodes a copper-specific transporting P-type ATPase. Early diagnosis can improve treatment outcome and decrease the rate of disability or even mortality.We used Sanger sequencing to identify mutation hot spots in 55 northern Vietnamese with a clinical diagnosis of WD. Mutations were screened and detected by direct DNA sequencing. A total of 26 different ATP7B gene mutations were identified, including seven novel mutations (five nons...
Source: Journal of Genetics - Category: Genetics & Stem Cells Authors: Tags: J Genet Source Type: research
Rationale: Premature osteoarthritis (POA) is a rare condition in Wilson disease (WD). Particularly, when POA is the only complaint of a WD patient for a long time, there would be misdiagnosis or missed diagnosis and then treatment delay. Patient concerns and diagnosis: Two Chinese Han siblings were diagnosed as WD by corneal K-F rings, laboratory test, and mutation analysis. They presented with isolated POA during the first 2 decades or more of their disease course, and were of missed diagnosis during that long time. The older affected sib became disabled due to his severe osteoarthritis when he was as young as 38 yea...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 142 Author(s): Irene J. Chang, Si Houn Hahn Wilson disease (WD) is an autosomal-recessive disorder of hepatocellular copper deposition caused by pathogenic variants in the copper-transporting gene, ATP7B. Early detection and treatment are critical to prevent lifelong neuropsychiatric, hepatic, and systemic disabilities. Due to the marked heterogeneity in age of onset and clinical presentation, the diagnosis of Wilson disease remains challenging to physicians today. Direct sequencing of the ATP7B gene is the most sensitive and widely used confirmatory tes...
Source: Handbook of Clinical Neurology - Category: Neurology Source Type: research
, is a rare progressive genetic disorder of copper metabolism associated with hepatolenticular degeneration. Left untreated, it invariably results in severe disability and death. The diagnosis is very easily overlooked but if discovered early, effective treatments are available that will prevent or reverse many manifestations of this disorder. The role of copper in disease pathogenesis, coupled with clinical, biochemical, and genetic markers, are pivotal to establishing a clear diagnosis.
Source: Medicine - Category: Internal Medicine Authors: Tags: Metabolic liver disease Source Type: research
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