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Orphan designation

On 26 November 2010, orphan designation (EU/3/10/812) was granted by the European Commission to INC Research, United Kingdom, for recombinant fusion protein consisting of the extracellular portion of human activin receptor IIB linked to the human IgG1 Fc domain for the treatment of Duchenne muscular dystrophy.

The sponsorship was transferred to Shire Pharmaceuticals Ireland Limited, Ireland, in May 2011.

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is an inherited disease that gradually causes the muscles to become weaker. It mainly affects boys, and usually starts before the age of six years. The muscle weakness usually starts in the hips and legs, before reaching the chest, arms, and sometimes the heart. DMD is caused by abnormalities in the gene responsible for the production of a protein called dystrophin, so that patients with DMD do not have enough of this protein. As dystrophin is an important component of muscle fibres, the muscles of patients with DMD cannot grow, so they become weak and eventually stop working.

DMD causes long-term disability and is life threatening because of its effects on the heart and the respiratory muscles (muscles that are used to breathe). The disease usually leads to death in adolescence.

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

At the time of designation, DMD affected approximately 0.3 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 15,000 people, and is below the threshold 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 506,500,000 (Eurostat 2010).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of DMD. Patients received supportive treatment such as physiotherapy to relieve symptoms and improve the patient’s general condition. In addition, corticosteroids were used in an attempt to improve symptoms, although they were not authorised for use in this disease and were known to have severe side effects.

How is this medicine expected to work?

This medicine is a ‘fusion’ protein that is made up of two components:

  • a portion of the ‘activin receptor type IIB’;
  • a part of a human antibody (a type of protein) that can bind to specific structures.

The activin receptor type IIB part of the medicine is the same as a receptor in the body that is involved in regulating muscle growth. Certain substances, ‘ligands’, attach to it, causing muscle growth to slow down.

The receptor is used in the medicine to trap these ligands so they don’t have their normal effect on the muscles. As a result, muscle mass and strength are increased. This is expected to improve the symptoms of patients with DMD.

What is the stage of development of this medicine?

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

At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with DMD were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for DMD 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 9 September 2010 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 fusion protein consisting of the extracellular portion of human activin receptor IIB linked to the human IgG1 Fc domain</p>
Active substanceRecombinant fusion protein consisting of the extracellular portion of human activin receptor IIB linked to the human IgG1 Fc domain
Medicine Name
Disease/conditiontreatment of Duchenne muscular dystrophy
Date of decision26/11/2010
Orphan decision numberEU/3/10/812

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

Shire Pharmaceutical Ireland Limited
5 Riverwalk
Citywest Business Campus
Dublin 24
Telephone: +353 1 429 77 00
Telefax: +353 1 429 77 01

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.