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Orphan designation

On 9 August 2012, orphan designation (EU/3/12/1035) was granted by the European Commission to Novartis Europharm Limited, United Kingdom, for recombinant human monoclonal antibody against activin receptor type IIB for the treatment of inclusion-body myositis.

What is inclusion body myositis?

Inclusion body myositis is an inflammatory disease of the muscles that leads to progressive muscle weakness and wasting. The exact causes are unknown, but are thought to involve a complex interplay between ageing and genetic and environmental factors. The disease mostly occurs in people aged above 50 years and symptoms primarily affect muscles in the arms and legs, where they can lead to loss of hand function and inability to walk. 

Inclusion body myositis is a long-term debilitating and life-threatening condition due to the development of progressive weakness and wasting of the muscles which leads to a complete inability of the patient to live independently.

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

At the time of designation, inclusion-body myositis affected approximately 0.05 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 3,000 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 orphan designation, no satisfactory treatments were authorised in the EU for patients with inclusion-body myositis.

How is this medicine expected to work?

The medicine ‘recombinant human monoclonal antibody against activin receptor type IIB’ is a monoclonal antibody, a type of protein that has been designed to recognise and attach to a specific structure in the body. It is expected to attach to a receptor on the surface of muscle cells, called activin receptor type IIB, thereby preventing other proteins (including myostatin and activin) from attaching to it. When myostatin and activin normally attach to this receptor, they prevent the growth of muscle mass. Therefore, by blocking the effects of these proteins, this medicine is expected to increase muscle mass and improve muscle function in patients with inclusion-body myositis.

What is the stage of development of this medicine?

The effects of the medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with medicine in patients with inclusion-body myositis were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for inclusion-body myositis. Orphan designation of the medicine had been granted in the United States of America for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 11 July 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>Recombinant human monoclonal antibody against activin receptor type IIB</p>
Active substanceRecombinant human monoclonal antibody against activin receptor type IIB
Medicine Name
Disease/conditionTreatment of inclusion-body myositis
Date of decision09/08/2012
Orphan decision numberEU/3/12/1035

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:

Novartis Europharm Ltd
Wimblehurst Road
West Sussex
RH12 5AB
United Kingdom
Telephone: +44 1403 324260
Telefax: +44 1403 323054

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.