EU/3/13/1105

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Orphan designation

On 8 February 2013, orphan designation (EU/3/13/1105) was granted by the European Commission to Pfizer Limited, United Kingdom, for humanised monoclonal antibody against myostatin for the treatment of Duchenne muscular dystrophy.

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is a genetic disease that gradually causes weakness and atrophy (wasting) of the muscles. 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. Patients with DMD lack normal dystrophin, a protein found in muscles. Because this protein helps to strengthen and protect muscles from injury as muscles contract and relax, in patients with DMD the muscles 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 or early adulthood.

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

At the time of designation, DMD affected approximately 0.5 in 10,000 people in the European Union (EU). This was equivalent to a total of around 25,000 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, no satisfactory method had been authorised in the European Union to treat of DMD. Treatment of patients with Duchenne muscular dystrophy primarily involved physiotherapy and other supportive treatments.

How is this medicine expected to work?

This medicine is a monoclonal antibody (a type of protein) that has been designed to recognise and attach to a specific structure (an antigen) called myostatin. Myostatin is a protein present in muscle cells that prevents muscle growth and regeneration. When the medicine attaches to myostatin, it blocks its activity, which is expected to increase muscle mass and strength, thereby delaying the progression of the disease.

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, no clinical trials with the medicine in patients with DMD had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for DMD. Orphan designation of the medicine had been granted in the United States for DMD.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 9 January 2013 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>Humanised monoclonal antibody against myostatin</p>
Active substanceHumanised monoclonal antibody against myostatin
Medicine Name
Disease/conditionTreatment of Duchenne muscular dystrophy
Date of decision08/02/2013
OutcomePositive
Orphan decision numberEU/3/13/1105

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

Pfizer Ltd
Ramsgate Road
Sandwich
Kent
CT13 9NJ
United Kingdom
Tel. +44 (0)1304 616161
Fax +44 (0)1304 652144
E-mail: orphan_enquiries@pfizer.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.