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Orphan designation

On 20 September 2010, orphan designation (EU/3/10/784) was granted by the European Commission to Inspiration Biopharmaceuticals EU Limited, Ireland, for recombinant porcine factor VIII (B-domain-deleted) for the treatment of haemophilia A.

The sponsorship was transferred to Baxter Innovations GmbH, Austria, in July 2013.

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

What is haemophilia A?

Haemophilia A is an inherited bleeding disorder that is caused by the lack of a substance called factor VIII. Factor VIII is one of the proteins involved in the blood coagulation (clotting) process. Patients with haemophilia A are more prone to bleeding than normal and have 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. This can lead to permanent injury if it happens repeatedly.

Haemophilia A is a debilitating disease that is life-long and may be life-threatening because bleeding can also happen in the brain, the spinal cord, the throat or the gut.

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

At the time of designation, haemophilia A affected approximately 0.6 in 10,000 people in the European Union (EU). This was equivalent to a total of around 30,000 people*, and is below the threshold 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 506,300,000 (Eurostat 2010).

What treatments are available?

At the time of submission of the application for orphan-drug designation, medicines containing factor VIII were authorised in the EU for the treatment of haemophilia A, to replace the missing protein. However, some patients with haemophilia A could not benefit from these medicines because their immune system (the body’s natural defences) had reacted by producing ‘inhibitors’ (antibodies) against factor VIII. These inhibitors can stop the medicine from working. In these cases, other treatments were used, including treatments to try and remove the inhibitors from the blood or medicines containing other coagulation factors such as factor VIIa, which attempted to control bleeding by ‘by-passing’ the use of factor VIII. These methods were not effective in all patients.

The sponsor has provided sufficient information to show that recombinant porcine factor VIII (B-domain-deleted) might be of significant benefit for patients with haemophilia A because it might improve the treatment of patients who have developed inhibitors against human factor VIII. Early studies indicate that this medicine might be able to control bleeding episodes in these patients by restoring blood factor-VIII levels. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

How is this medicine expected to work?

Recombinant porcine factor VIII (B-domain-deleted) is a type of factor VIII that is expected to work in the same way as human factor VIII. It is produced by a method known as ‘recombinant DNA technology’: it is made by a cell that has received a gene (DNA). This makes the cell able to produce a form of factor VIII that is similar to the factor VIII normally produced by pigs.

In the body, the medicine is expected to replace the missing human factor VIII, making the patient less prone to bleeding. The medicine is therefore expected to work even in patients who have developed inhibitors against human factor VIII. This is because the pig factor VIII has a slightly different shape to human factor VIII and will not be as easily recognised by the inhibitors against the human protein.

What is the stage of development of this medicine?

The effects of recombinant porcine factor VIII (B-domain-deleted) have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with recombinant porcine factor VIII (B-domain-deleted) in patients with haemophilia A were ongoing.

At the time of submission, recombinant porcine factor VIII (B-domain-deleted) was not authorised anywhere in the EU for haemophilia A. Orphan designation of this medicine had been granted in the United States for the treatment and prevention of episodic bleeding in patients with inhibitor antibodies to human coagulation factor VIII.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 2 June 2010 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 porcine factor VIII (B-domain-deleted)</p>
Active substanceRecombinant porcine factor VIII (B-domain-deleted)
Medicine Name
Disease/conditionTreatment of haemophilia A
Date of decision20/09/2010
Orphan decision numberEU/3/10/784

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.

Related information

Sponsor’s contact details:

Baxter Innovations GmbH
Industriestrasse 67
A-1221 Vienna
Tel. +43 1 201 00 2542
Fax +43 1 201 00 771

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.