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Orphan designation

On 21 June 2011, orphan designation (EU/3/11/876) was granted by the European Commission to the University of Sheffield, United Kingdom, for viral vector containing DNA encoding the human SMN protein for the treatment of 5q spinal muscular atrophy.

What is 5q spinal muscular atrophy?

5q spinal muscular atrophy is an inherited disease that affects the motor neurons (nerves from the brain and spinal cord that control muscle movements). Patients with the disease lack a protein called ‘spinal motor neuron’ (SMN) protein, which is essential for the normal functioning and survival of motor neurons. Without this protein, the motor neurons deteriorate and eventually die. This causes the muscles to fall into disuse, leading to muscle wasting (atrophy) and weakness. Muscle weakness is usually more severe in the proximal musculature (the muscles closest to the trunk). The disease is linked to a defect on chromosome 5q and is usually diagnosed in the first year of life.

5q spinal muscular atrophy disease is a long-term debilitating and life-threatening disease because it causes breathing problems and paralysis that worsens over time.

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

At the time of designation, 5q spinal muscular atrophy 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 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 designation, no satisfactory methods were authorised in the EU for the treatment of 5q spinal muscular atrophy. Patients received supportive treatment to help them and their family to cope with the symptoms of the disease. This included chest physiotherapy and physical aids to support muscular function, and ventilators to help with breathing.

How is this medicine expected to work?

This medicine is made of a virus that contains normal copies of the gene responsible for the production of the SMN protein. When injected into the patient, the virus is expected to carry the gene into the brain cells, where the gene is expected to enable the cells to start producing the SMN protein. This is expected to improve muscle function.

The type of virus used in this medicine (‘adeno-associated virus’; AAV9) does not cause disease in humans.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, the evaluation of the effects of ‘viral vector containing DNA encoding the human SMN protein’ in experimental models was ongoing.

At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with 5q spinal muscular atrophy had been started.

At the time of submission, this medicine was not authorised anywhere in the EU for 5q spinal muscular atrophy 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 March 2011 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>Viral vector containing DNA encoding the human SMN protein</p>
Active substanceViral vector containing DNA encoding the human SMN protein
Medicine Name
Disease/conditionTreatment of 5q spinal muscular atrophy
Date of decision21/06/2011
Orphan decision numberEU/3/11/876

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:

University of Sheffield
Western Bank
Sheffield, S10 2TN
United Kingdom
Telephone: +44 114 222 2238
Telefax: +44 114 222 2292

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.