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Orphan designation

On 4 July 2012, orphan designation (EU/3/12/1013) was granted by the European Commission to Cytheris SA, France, for recombinant human interleukin-7 for the treatment of progressive multifocal leukoencephalopathy.

The sponsorship was transferred to Inserm-ANRS (Agence Nationale de Recherches sur le Sida et les Hépatites Virales), France, in May 2014.

For a list of the administrative updates to this public summary of opinion please refer to the PDF document below.

What is progressive multifocal leukoencephalopathy?

Progressive multifocal leukoencephalopathy (PML) is a rare brain infection caused by a virus called the JC virus. This virus does not cause disease in the general population but only leads to PML in people with a weakened immune system (the body’s natural defences), such as HIV-infected patients. In PML the virus has spread to the brain where it causes damage to the protective sheath surrounding nerves, causing symptoms such as progressive weakness, clumsiness, visual problems, difficulty speaking and decline in mental abilities.

PML is a long-term debilitating and life-threatening disease because of severe damage to motor (movement) and cognitive (mental) functions.

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

At the time of designation, PML affected approximately 0.04 in 10,000 people in the European Union (EU). This was equivalent to a total of around 2,000 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 for the treatment of PML. Management of PML patients varied depending on the cause of the weakened immune system and consisted of strengthening the immune system.

How is this medicine expected to work?

This medicine is similar to a messenger molecule in the body called interleukin-7. Interleukin-7 is involved in the production of T cells, cells in the immune system that help to fight infections. This medicine is expected to stimulate the production of T cells, thereby helping the immune system to fight against the JC virus.

This medicine is made by a method known as ‘recombinant DNA technology’: it is made by a cell that has received a gene (DNA) that makes it able to produce interleukin-7.

What is the stage of development of this medicine?

The effects of recombinant human interleukin-7 have been evaluated in experimental models.

At the time of submission of the application for orphan designation, a clinical trial with the medicine in patients with PML was planned.

At the time of submission, the medicine was not authorised anywhere in the EU for PML 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.

Key facts

Product details for <p>Recombinant human interleukin-7</p>
Active substanceRecombinant human interleukin-7
Medicine Name
Disease/conditionTreatment of progressive multifocal leukoencephalopathy
Date of decision04/07/2012
Orphan decision numberEU/3/12/1013

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

Inserm-ANRS (Agence Nationale de Recherches sur le Sida et les Hépatites Virales)
101 rue de Tolbiac
75013 Paris
Tel. +33 1 5394 6000
Fax +33 1 5394 6001

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.