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Orphan designation

On 8 October 2009, orphan designation (EU/3/09/663) was granted by the European Commission to Amsterdam Molecular Therapeutics BV, the Netherlands, for adeno-associated viral vector containing modified U1 snRNA for the treatment of Duchenne muscular dystrophy.

In July 2012, Amsterdam Molecular Therapeutics BV changed name to uniQure biopharma B.V.

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is an inherited genetic disease characterised by progressive weakening of the muscles. It mainly affects boys, usually before the age of six years. The muscle weakness usually starts in the hips and legs, before reaching the chest, arms, and possibly the heart. DMD is caused by abnormalities in the gene that is responsible for the production of a protein called dystrophin. As a result, 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.

Duchenne 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 affected by the condition?

At the time of designation, DMD affected approximately 0.3 in 10,000 people in the European Union (EU). This was equivalent to a total of around 15,000 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 504,800,000 (Eurostat 2009).

What treatments are available?

At the time of designation, there were no treatments available in the EU that could cure DMD. Physiotherapy is used to relieve symptoms and improve the patient’s general condition. In addition, corticosteroids are used in an attempt to improve symptoms, although they are not specifically authorised for use in this disease.

How is this medicine expected to work?

In DMD, the lack of dystrophin is caused by the gene for dystrophin containing abnormal regions that affect the way the dystrophin protein is produced. Adeno-associated viral vector containing modified U1 snRNA is made up of the capsid (shell) of a virus containing genetic material that has been modified to enable cells to skip certain parts of their genes when they make proteins. The medicine is expected to be given to patients directly into the blood, so that the virus can carry the genetic material into the muscle cells, including the heart and respiratory muscles. This is expected to enable the cell to skip the abnormal parts of the dystrophin gene, so that the cell can produce a shorter version of the protein that is still able to work in the same way as normal dystrophin.

The type of virus used in this medicine (an adeno-associated virus) is modified so that it does not cause disease in humans.

What is the stage of development of this medicine?

The effects of adeno-associated viral vector containing modified U1 snRNA have been evaluated in experimental models.

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

At the time of submission, adeno-associated viral vector containing modified U1 snRNA 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 8 July 2009 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 Community) 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>Adeno-associated viral vector containing modified U1 snRNA</p>
Active substanceAdeno-associated viral vector containing modified U1 snRNA
Medicine Name
Disease/conditionTreatment of Duchenne muscular dystrophy
Date of decision08/10/2009
Orphan decision numberEU/3/09/663

Review of designation

Sponsor’s contact details

uniQure biopharma B.V.
Paasheuvelweg 25
1105 BP
The Netherlands
Tel: +31 (0)20 240 6154

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.