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Orphan designation

On 3 June 2008, orphan designation (EU/3/08/552) was granted by the European Commission to Novo Nordisk A/S, Denmark, for pegylated recombinant factor VIIa for the treatment of haemophilia B.

What is haemophilia B?

Haemophilia B is an inherited disorder where the body’s ability to control blood clotting (coagulation) is impaired. It is caused by an inborn deficiency (low levels) of a substance called factor IX, which is one of the human proteins involved in the blood clotting process. Patients with haemophilia B have longer bleeding times than normal and poor wound healing after injury or surgery. Bleeding can also happen within muscles or the spaces in the joints, such as the elbows, knees and ankles, which can lead to permanent injury if it happens repeatedly. Rare, but life-threatening bleeding can also happen in the brain and spinal cord, the throat or the gut.

Haemophilia B is a debilitating disease that is long lasting and may be life threatening.

What treatments are available?

Several products containing factor IX are authorised for the treatment of haemophilia B in the European Union. These are used to replace the missing protein. However, not all patients with haemophilia B can benefit from these products because the immune system can react against them by producing inhibitors (antibodies) against factor IX.

In these cases, other treatments need to be used, such as medicines containing other coagulation factors, either alone or in combination. These can include factor VIIa, which works by activating another factor called factor X to start the coagulation process. Factor VIIa acts directly on factor X, independently from factor IX, so medicines containing factor VIIa can be of use in patients who have developed inhibitors to factor IX.

The sponsor has submitted satisfactory documentation to justify its assumption that pegylated recombinant factor VIIa might be of benefit for the treatment of haemophilia B, because it might contribute to the care of the haemophilia B patients who have developed inhibitors against factor IX and it may possibly be given less often than the currently used treatment. This assumption will need to be confirmed at the time of marketing authorisation to maintain the orphan status.

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

Based on the information provided by the sponsor and previous knowledge of the Committee, haemophilia B was considered to affect around 0.1 in 10,000 people in the European Union. At the time of designation, this was equivalent to a total of around 5,000 persons.

*Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed based on data from the European Union (EU 27), Norway, Iceland and Lichtenstein. This represents a population of 502,282,135 (Eurostat 2008). This estimate is based on available information and calculations presented by the sponsor at the time of the application.

How is this medicine expected to act?

Pegylated recombinant factor VIIa is expected to work in the body in the same way as human factor VIIa. By activating factor X, it is expected to control the bleeding disorder in patients who have developed inhibitors to factor IX.

Pegylated recombinant factor VIIa 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 factor VIIa. It has also been modified by a process called ‘pegylation’, meaning that it has been coated with a chemical called polyethylene glycol. This decreases the rate at which the substance is removed from the body and allows the medicine to be given less often than other products that are available.

What is the stage of development of this medicinal product?

The effects of pegylated recombinant factor VIIa were evaluated in experimental models. At the time of submission of the application for orphan designation, clinical trials were ongoing.

At the time of submission, pegylated recombinant factor VIIa was not authorised anywhere in the world for the treatment of haemophilia B or designated as orphan medicinal product elsewhere for this condition.

According to Regulation (EC) No 141/2000 of 16 December 1999, the Committee for Orphan Medicinal Products (COMP) adopted a positive opinion on 8 April 2008, recommending the granting of the above-mentioned designation.

Opinions on orphan medicinal products designations are based on the following cumulative criteria:
  • the seriousness of the condition,
  • the existence or not of alternative methods of diagnosis, prevention or treatment and
  • either the rarity of the condition (considered to affect not more than five in 10,000 people in the Community) or the insufficient return of development investments.

Designated orphan medicinal products are products that are still under investigation, which are considered for orphan designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of the quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.

Key facts

Product details for <p>Pegylated recombinant factor VIIa</p>
Active substancePegylated recombinant factor VIIa
Medicine Name
Disease/conditionTreatment of haemophilia B
Date of decision03/06/2008
Orphan decision numberEU/3/08/552

Review of designation

Sponsor’s contact details:

Novo Nordisk A/S
Novo Allé
Telephone: +45 44 44 88 88
Telefax: +45 44 49 05 55

Patients’ associations contact points:

Association Française des Hémophiles
6 Rue Alexandre Cabanel
75739 Paris Cedex 15
Telephone: +33 1 45 67 77 67
Telefax: +33 1 45 67 85 44

The Haemophilia Society
57a Hatton Garden
United Kingdom
Telephone: +44 20 78 31 10 20
Telefax: +44 20 74 05 48 24

DHG : Deutsche Hämophiliegesellschaft zur Bekämpfung von Blutungskrankheiten e.V.
Neumann-Reichardt-Straße 34
22041 Hamburg
Telephone: +49 40 67 22 970
Telefax: +49 40 67 24 944