EU/3/20/2274 - orphan designation for treatment of haemophilia A

adeno-associated virus vector serotype hu37 encoding human factor VIII

Overview

On 22 April 2020, orphan designation EU/3/20/2274 was granted by the European Commission to Bayer AG, Germany, for adeno-associated virus vector serotype hu37 encoding human factor VIII (also known as BAY 259902) for the treatment of haemophilia A.

What is haemophilia A?

Haemophilia A is an inherited bleeding disorder caused by the lack of factor VIII, one of the proteins involved in blood coagulation (clotting). 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).

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* 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, Iceland, Liechtenstein, Norway and the United Kingdom. This represents a population of 519,200,000 (Eurostat 2020).

What treatments are available?

At the time of designation, authorised treatments included medicines containing factor VIII 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, different blood clotting factors or other treatments needed to be used. Hemlibra (emicizumab) was authorised to prevent bleeding in patients with factor VIII inhibitors or without factor VIII inhibitors if their haemophilia A was severe.

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with haemophilia A because preliminary data show that the medicine led to long-term production of factor VIII in patients’ bodies and reduced the need for treatment to replace factor VIII.

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?

Patients with haemophilia A lack factor VIII due to a fault in the gene for this protein. The medicine is made of a virus that has been modified to contain a normal gene for factor VIII. When given to patients in a single infusion (drip), the virus is expected to deliver the gene to the liver cells. By taking up the gene, liver cells are expected to produce factor VIII, thereby helping the blood to clot normally and prevent abnormal bleeding.

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

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 the treatment of haemophilia A. Orphan designation had been granted in the USA for this condition.

In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 19 March 2020, 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.

EU/3/20/2274: Public summary of positive opinion for orphan designation of adeno-associated virus vector serotype hu37 encoding human factor VIII for the treatment of haemophilia A

AdoptedReference Number: EMADOC-628903358-2226

Key facts

• Active substance:
  adeno-associated virus vector serotype hu37 encoding human factor VIII
• Intended use:
  Treatment of haemophilia A
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/20/2274
• Date of designation:
  22/04/2020
• Sponsor:

  Bayer AG; Po Box 51368; Leverkusen; Germany; Tel: [phone]; E-mail: [e-mail]

Review of designation

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