EU/3/19/2141 - orphan designation for treatment of haemophilia B

Lentiviral vector encoding human coagulation factor IX

Overview

On 26 February 2019, orphan designation (EU/3/19/2141) was granted by the European Commission to Fondazione Telethon, Italy, for lentiviral vector encoding human coagulation factor IX for treatment of haemophilia B.

What is haemophilia B?

Haemophilia B is an inherited bleeding disorder that is caused by the lack of factor IX, which is one of the proteins involved in the blood coagulation (clotting) process. Patients with haemophilia B 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 B is a debilitating disease that is life long and may be life threatening because bleeding can also happen in the brain and spinal cord, the throat or the gut.

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

At the time of designation, haemophilia B affected approximately 0.16 in 10,000 people in the European Union (EU). This was equivalent to a total of around 8,000 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).

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*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 518,400,000 (Eurostat 2019).

What treatments are available?

At the time of designation, medicines containing factor IX were authorised in the EU for the treatment of haemophilia B, to replace the missing protein. However, factor IX medicines did not work in some patients with haemophilia B because the immune system (the body’s natural defences) can produce ‘inhibitors’ (antibodies) against factor IX which stop the factor IX 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 the medicine might be of significant benefit for patients with haemophilia B. Preliminary laboratory data show that it can increase the amount of factor IX circulating in the blood. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status

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How is this medicine expected to work?

This medicine is made of a virus that contains a copy of the gene responsible for producing factor IX. When the medicine is injected into the patient, the virus is expected to carry the gene into the liver cells enabling them to start producing the missing factor IX and thereby help to relieve symptoms of the disease.

The virus used in this medicine (lentivirus) is modified in order not to 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, no clinical trials with the medicine in patients with haemophilia B had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for haemophilia B 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 24 January 2019 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/3/19/2141: Public summary of opinion on orphan designation for lentiviral vector encoding human coagulation factor IX for treatment of haemophilia B

Adopted Reference Number: EMADOC-628903358-448

Key facts

• Active substance:
  Lentiviral vector encoding human coagulation factor IX
• Intended use:
  Treatment of haemophilia B
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/19/2141
• Date of designation:
  26/02/2019
• Sponsor:

  Genespire S.r.l.;