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Orphan designation

On 22 February 2018, orphan designation (EU/3/18/1979) was granted by the European Commission to Bayer AG, Germany, for human monoclonal IgG2 antibody against tissue factor pathway inhibitor (also known as BAY 1093884) for the treatment of haemophilia A.

What is haemophilia A?

Haemophilia A is an inherited bleeding disorder that is caused by the lack of factor VIII, which is one of the proteins involved in the blood coagulation (clotting) process. Patients with haemophilia A are prone to bleeding and bleed for a long time after injury or surgery. Bleeding can also happen within muscles or 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 occur in the brain, spinal cord or gut.

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

At the time of designation, haemophilia A affected approximately 0.7 in 10,000 people in the European Union (EU). This was equivalent to a total of around 36,000 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This isbased 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 28), Norway, Iceland and Liechtenstein. This represents a population of 517,400,000 (Eurostat 2018).

What treatments are available?

At the time of designation, medicines containing factor VIII were authorised in the EU for the treatment of haemophilia A, to replace the missing protein. However, factor VIII medicines did not work in some patients with haemophilia A because the immune system (the body’s natural defences) can produce ‘inhibitors’ (antibodies) against factor VIII which stop the factor VIII medicine from working. In these cases, other treatments needed to be used, such as factor VIIa (the activated form of factor VII, another protein involved in blood clotting), either alone or as part of a combination treatment.

The sponsor has provided sufficient information to show that this medicine might be of significant benefit for patients with haemophilia A because results from early studies showed that the medicine works in patients who have developed inhibitors to authorised treatments. In addition, studies in experimental models suggest that the medicine may be safer than some authorised treatments, because it lowers the risk of clots in blood vessels.

These assumptions 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?

This medicine is a monoclonal antibody (a type of protein) that has been designed to recognise and attach to TFPI, a protein that blocks an alternative process for blood clotting which does not need factor VIII. By attaching to TFPI, the medicine is expected to prevent its activity and allow blood clotting by the alternative process in patients with haemophilia A. This is expected to reduce bleeding.

What is the stage of development of this medicine?

The effects of the medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with haemophilia A were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for haemophilia A 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 18 January 2018 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>Human monoclonal IgG2 antibody against tissue factor pathway inhibitor</p>
Active substanceHuman monoclonal IgG2 antibody against tissue factor pathway inhibitor
Medicine Name
Disease/conditionTreatment of haemophilia A
Date of decision22/02/2018
Orphan decision numberEU/3/18/1979

Review of designation

Sponsor’s contact details

Bayer AG
51368 Leverkusen
Tel. +49 30 300 139 003

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.