EU/3/12/986

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Orphan designation

On 26 April 2012, orphan designation (EU/3/12/986) was granted by the European Commission to Celgene Europe Limited, United Kingdom, for pomalidomide for the treatment of systemic sclerosis.

What is systemic sclerosis?

Systemic sclerosis is a complex disease in which the immune system (the body’s natural defences) is overactivated, causing inflammation and excess production of various proteins, particularly collagen. The reason why the immune system is overactivated is not known. Collagen is an important component of connective tissue (the tissue that supports the skin and internal organs).

The overproduction of collagen leads to the abnormal growth of connective tissue, causing the skin to become thick and hard. It also damages tissues in the blood vessel walls of the internal organs, such as the heart, lungs and kidneys. This makes it more difficult for the blood to move through the vessels, causing tissue damage, circulation problems and high blood pressure.

Systemic sclerosis is a long-lasting debilitating disease and may be life threatening because of its effects on the gut, heart, lungs and kidneys.

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

At the time of designation, systemic sclerosis affected approximately 1.6 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 81,000 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 506,300,000 (Eurostat 2011).

What treatments are available?

At the time of designation, there were no treatments for systemic sclerosis that could stop the build-up of collagen. Treatments authorised in the EU were aimed at relieving the symptoms of the disease and limiting the damage it causes. Several medicines were used to reduce inflammation and circulation problems. Bosentan was authorised in the EU specifically to treat patients with systemic sclerosis who have pulmonary arterial hypertension or ‘digital ulcers’ (sores on the fingers and toes).

The sponsor has provided sufficient information to show that pomalidomide might be of significant benefit for patients with systemic sclerosis because early studies in experimental models suggest that it might target the underlying cause of the disease, namely the overactivated immune system that causes the overproduction of collagen. 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?

The precise way in which pomalidomide is expected to work is not fully understood, but pomalidomide is thought to act as a ‘modulator’ of the immune system by several mechanisms, including by altering the balance of certain pro- and anti-inflammatory proteins called ‘cytokines’. This is expected to result in a reduction of the inflammation and hence of the production of excess collagen, therefore improving the symptoms of systemic sclerosis.

What is the stage of development of this medicine?

The effects of pomalidomide have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with pomalidomide in patients with systemic sclerosis had been started.

At the time of submission, pomalidomide was not authorised anywhere in the EU for systemic sclerosis 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 8 March 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>Pomalidomide</p>
Active substancePomalidomide
Medicine Name
Disease/conditionTreatment of systemic sclerosis
Date of decision26/04/2012
OutcomePositive
Orphan decision numberEU/3/12/986

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:

Celgene Europe Limited
1 Longwalk Road
Stockley Park
Uxbridge
Middlesex UB11 1DB
United Kingdom
Telephone: +44 208 831 8300
Telefax: +44 208 831 8301
E-mail: medinfo.uk.ire@celgene.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.