EU/3/12/1089 - orphan designation for treatment of Wilson's disease
Choline tetrathiomolybdate
OrphanHuman
Overview
On 24 January 2013, orphan designation (EU/3/12/1089) was granted by the European Commission to Medical Need Europe AB, Sweden, for choline tetrathiomolybdate for the treatment of Wilson's disease.
The sponsorship was transferred to Wilson Therapeutics AB, Sweden, in July 2014.
The sponsorship was transferred to Alexion Europe S.A.S., France, in February 2019.
The sponsor’s address was updated in November 2019.
Wilson's disease is a genetic disorder that causes excessive copper accumulation in the body. In healthy people, copper absorbed from food is cleared from the body primarily in the bile, a liquid produced from the liver and secreted into the intestines. In people with Wilson's disease, the liver cannot get rid of the copper, so it builds up in the liver and in other organs such as the kidneys, brain and eyes, 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 isbased 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. At the time of designation, this represented a population of 512,200,000 (Eurostat 2013).
At the time of designation, several medicines were authorised in the EU for the treatment of Wilson's disease. These medicines were used to remove excess copper from the body and to limit the absorption of further copper from food.
The sponsor has provided sufficient information to show that choline tetrathiomolybdate might be of significant benefit for patients with Wilson's disease because it is expected to rapidly decrease copper levels in the body. In particular, it is expected to be beneficial for patients with Wilson's disease who suffer from neurological symptoms (affecting the brain) and who sometimes get worse when starting treatment with available therapies.
This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
Choline tetrathiomolybdate is expected to rapidly attach to copper and to a protein called albumin in the bloodstream. Once attached to choline tetrathiomolybdate and albumin, copper cannot be taken up by the organs and is eliminated from the body. Therefore, the damaging effects of copper are expected to decrease.
The effects of choline tetrathiomolybdate have been evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials with choline tetrathiomolybdate in patients with Wilson's disease had been started.
At the time of submission, choline tetrathiomolybdate was not authorised anywhere in the EU for Wilson's disease. Orphan designation of choline tetrathiomolybdate had been granted in the United States for Wilson's disease.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 6 December 2012 recommending the granting of this designation.
- the seriousness of the condition;
- the existence of alternative methods of diagnosis, prevention or treatment;
- either the rarity of the condition (affecting not more than 5 in 10,000 people in the EU) or insufficient returns on investment.
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.
Key facts
- Active substance
- Choline tetrathiomolybdate
- Intended use
- Treatment of Wilson's disease
- Orphan designation status
- Positive
- EU designation number
- EU/3/12/1089
- Date of designation
- Sponsor
Alexion Europe S.A.S.
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
EMA list of opinions on orphan medicinal product designation
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
Patients' organisations
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.
EU register of orphan medicines
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: