EU/3/12/1089

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Orphan designation

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.

What is Wilson’s disease?

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.

What is the estimated number of patients affected by the condition?

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 27), Norway, Iceland and Liechtenstein. This represents a population of 509,000,000 (Eurostat 2013).

What treatments are available?

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.

How is this medicine expected to work?

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.

What is the stage of development of this medicine?

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.

Opinions on orphan medicinal product designations are based on the following three criteria
  • 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

Product details for <p>Choline tetrathiomolybdate</p>
Active substanceCholine tetrathiomolybdate
Medicine Name
Disease/conditionTreatment of Wilson’s disease
Date of decision24/01/2013
OutcomePositive
Orphan decision numberEU/3/12/1089

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.

Sponsor’s contact details:

Medical Need Europe AB
Teatergatan 3
111 48 Stockholm
Sweden
Tel. +46 853 339 500
Fax +46 735 276 468
E-mail: info@medicalneed.com

Patients' organisations:

For contact details of patients’ organisations whose activities are targeted at rare diseases, see:

  • Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe;
  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.