On 23 August 2017, orphan designation (EU/3/17/1898) was granted by the European Commission to Vivet Therapeutics SAS, France, for adeno-associated viral vector serotype Anc80 containing the truncated human ATP7B gene under the control of the human alpha-1 antitrypsin promoter (also known as VTX-801) for the treatment of Wilson's disease.
The sponsor’s address was updated in April 2020.
Please note that this product was withdrawn from the Union Register of orphan medicinal products in November 2020 on request of the Sponsor.
Wilson's disease is a genetic disorder that causes copper absorbed from food to accumulate in the body. In healthy people, liver cells remove excess copper. In people with Wilson's disease, due to a genetic mutation (change), the liver cannot remove copper, which builds up in the liver and in other organs such as the brain, and damages them.
Wilson's disease is chronically debilitating and can be life threatening if not treated due to the toxicity of copper in the liver and brain.
At the time of designation, Wilson's disease affected approximately 0.6 in 10,000 people in the European Union (EU). This was equivalent to a total of around 31,000 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).
*Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed on the basis of data from the European Union (EU 28), Norway, Iceland and Liechtenstein. This represents a population of 515,700,000 (Eurostat 2017).
At the time of designation, penicillamine, trientine and zinc acetate were authorised in the EU for the treatment of Wilson's disease. The only curative treatment for Wilson's disease was liver transplantation.
The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with Wilson's disease, with laboratory studies showing that it replaces the defective gene causing the disease and leads to lasting improvements. It also has the potential to reverse liver damage that has already taken place.
This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
Because of a genetic mutation, in patients with Wilson's disease a protein in liver cells called ATP7B does not work properly. As a result, the liver cannot remove copper.
The medicine is made of a virus that has been modified to contain functioning copies of the gene for the ATP7B protein. After being given to the patient as an injection into a vein, the virus is expected to carry the ATP7B gene into the liver cells, enabling them to produce a functional protein. This is expected to correct how the body handles copper.
The type of virus used in this medicine ('adeno-associated virus') does not cause disease in humans.
The effects of the medicine have been evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with Wilson's disease had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for Wilson's disease or designated as an orphan medicinal product elsewhere for this condition.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 13 July 2017 recommending the granting of this designation.
Designated orphan medicinal products are products that are still under investigation and are considered for orphan designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.
Vivet Therapeutics SAS
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
For contact details of patients’ organisations whose activities are targeted at rare diseases, see:
European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: