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Orphan designation

On 4 July 2012, orphan designation (EU/3/12/1010) was granted by the European Commission to PTC Therapeutics Limited, United Kingdom, for ataluren for treatment of Becker muscular dystrophy.

The sponsorship was transferred to PTC Therapeutics International Limited, Ireland, in June 2015.

What is Becker muscular dystrophy?

Becker muscular dystrophy is an inherited disease that gradually causes the muscles to become weaker. The muscle weakness usually starts in the hips and legs and may later on involve the chest and the heart. The disease mainly affects boys, and usually starts between the ages of 10 and 15.

Becker muscular dystrophy is caused by abnormalities in the gene responsible for the production of dystrophin, a protein that forms an important component of muscle fibres. As the patients do not have enough of the functional protein, the muscle fibres gradually break down leading to muscle weakness.

Becker muscular dystrophy 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).

What is the estimated number of patients?

At the time of designation, Becker muscular dystrophy affected approximately 0.2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 10,000 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. At the time of designation, this represented a population of 509,000,000 (Eurostat 2012).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of Becker muscular dystrophy. Patients received supportive treatment 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.

How is this medicine expected to work?

Becker muscular dystrophy is caused by a number of genetic abnormalities. Some of these involve the presence of defective sequences in certain DNA threads which stop the production of dystrophin, leading to a truncated dystrophin protein that does not function properly.

This medicine is expected to work by enabling the protein-making apparatus in cells to ‘read through’ the affected DNA threads, allowing the cells to produce fully functional dystrophin.

What is the stage of development of this medicine?

The effects of ataluren have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with ataluren in patients with Becker muscular dystrophy were ongoing.

At the time of submission, ataluren was not authorised anywhere in the EU for Becker muscular dystrophy 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 11 May 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.

Name Language First published Last updated
EU/3/12/1010: Public summary of opinion on orphan designation: Ataluren for treatment of Becker muscular dystrophy (English only) 2012-07-24 2015-03-23

Key facts

Product details for <p>Ataluren</p>
Active substanceAtaluren
Medicine Name
Disease/conditionTreatment of Becker muscular dystrophy
Date of decision04/07/2012
Orphan decision numberEU/3/12/1010

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

PTC Therapeutics International Limited
5th floor, 3 Grand Canal Plaza
Grand Canal Street Upper
Dublin 4
D04 EE70
Tel. +353 1 906 87 02

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.