Rare Disease Day - Wilson's Disease
Written by Peter Adura, Senior Director, Medical Services
In the run up to Rare Disease Day on 28 February, Cmed would like to share its experience with Wilson’s disease.
Wilson’s disease is caused by a deficiency in the ATP7B gene which codes the enzyme for copper transportation. The disease is inherited in an autosomal recessive manner. Also known as hepatolenticular degeneration and progressive lenticular degeneration, this rare genetic disorder causes copper poisoning in the body. It affects about 1 in 30,000 people worldwide.
In a healthy body, the liver filters out excess copper and releases it through the bile. With Wilson’s disease, the liver cannot remove the extra copper properly. The extra copper then builds up in organs such as the brain, liver, and eyes leading to organ damage. The disease is progressive: it can cause liver (hepatic) disease, central nervous system dysfunction and if left untreated, it can be fatal. Early diagnosis and treatment can therefore prevent serious long-term disability and life-threatening complications.
Common treatment includes dietary changes (low copper diet) and medications (chelating agents such as trientine and d-penicillamine and zinc supplements). In extreme situations, liver transplantation can be considered. Very few clinical trials have been conducted to date and most have focused on the use of these medications. However, pioneer clinical trials on gene therapies are now being instigated.
Treatments based on gene therapy are a very attractive concept as they target the genetic cause of the disease. This contrasts with conventional treatments that aim to reduce the amount of copper that has accumulated in the body and then maintain normal copper levels.
Whilst there is still a long way to go with this treatment, it offers hope to those affected by Wilson’s disease.
For more information on Cmed’s experience of managing trials for treatments using gene therapy please contact the Operations team at email@example.com.
More information on Wilson’s Disease: NORD - The National Organization for Rare Disorders
Support organizations for people affected by Wilson’s disease: WDA - the Wilson Disease Association funds research and facilitates identification, treatment and support of people affected by Wilson’s disease Wilson’s Disease Support Group - UK Association Bernard Pepin pour la Maladie de Wilson - France Verein Morbus Wilson e.V. - Germany Orphan Europe - Wilson’s Disease, other European countries Wilson Disease Association - USA https://www.wilsonsdisease.org/ February 28 is Rare Disease Day 2019