Our aim is to help the population that suffer from this disease to make sure they receive effective reliable treatment that improves their symptoms and offers lifelong support.
Wilson disease is a rare treatable disorder which affects 1 in 30,000 people. Individuals with Wilson disease have a mutation in the ATP7B gene which causes increased levels of copper in the body. Treatment for the disease is aimed at removing excess accumulated copper and preventing its re-accumulation. Arcinova has analysed thousands of Wilson disease samples measuring both copper and ceruloplasmin, a copper carrier protein.
Individuals with Wilsons disease have a mutation in the ATP7B gene which causes increased levels of copper in the body.
The ATP7B gene in healthy individuals encodes a metal P-type ATPase that assists trans-membrane transport of copper within the liver. However, in Wilson diseased patients the lack of the protein leads to decreased copper excretion from the liver and copper overload in hepatocytes. When the hepatic storage capacity is surpassed, copper is released into the circulation leading to potentially toxic levels of copper accumulating in organs and tissues. To monitor levels within the body both copper and ceruloplasmin are commonly measured when diagnosing or monitoring the health of Wilson Disease patients.
Arcinova has worked with many clients to aid in the diagnosis and treatment of Wilsons disease through advanced bioanalytical solutions. Read our posters to explore how our expertise is making a difference in rare disease research and clinical development.
Our work with Wilsons disease started in the non-clinical stage where we were quantifying plasma, urine, faeces and tissue concentrations in LEA and LEC rats. The objective of this study was to identify the impact of a new drug mode of action on the routes and rates of excretion.
The bioanalytical ICP-MS team is an expert group at Arcinova that includes a cross-functional team of scientists passionate about effective Wilson disease treatment.
The team have worked in the Wilson Disease space for over 10 years and have validated a total of 14 assays by ICP-MS and LC-ICP-MS measuring copper and ceruloplasmin-derived copper. Our teams main goal is to improve Wilson disease patients quality of life and with effective treatment this is possible.
The ICP-MS team are extremely proud to be involved in the advanced research of Wilson Disease. Bioanalysis is a critical part of drug development and the ICP-MS team have developed and validated several assays to support drug discovery in the Wilson disease space through to pre-clinical and clinical studies.
We are delighted our data has helped understand drug exposure, safety, and metabolism which have been essential in accelerating drugs to clinic and commercialisation.
The team are excited to see where their knowledge can be used to continue to help individuals with Wilson Disease.