Please note that this product was withdrawn from the Union Register of orphan medicinal products in September 2023 on request of the Sponsor.
On 25 May 2018, orphan designation (EU/3/18/2015) was granted by the European Commission to Baxalta Innovations GmbH, Austria, for adeno-associated viral vector serotype 8 containing a functional copy of the codon-optimised F8 cDNA encoding the B-domain deleted human coagulation factor VIII for the treatment of 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.
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 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 28), Norway, Iceland and Liechtenstein. This represents a population of 517,400,000 (Eurostat 2018).
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 the medicine might be of significant benefit for patients with haemophilia A because laboratory studies indicate that it can restore normal levels of factor VIII circulating in the blood and reduce blood loss after a single dose of the medicine. As a result, patients may not need or may need less frequent treatment with factor VIII medicines.
This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
In patients with haemophilia A, the gene for producing factor VIII is defective, which stops them making factor VIII.
This medicine is made of a virus that contains copies of the gene responsible for producing factor VIII. When injected into the patient's vein, it is expected that the virus will be carried to the liver where the gene will be taken up into the patient's liver cells and start producing factor VIII. It is expected that a single dose of the medicine will maintain raised levels of factor VIII for a long time thereby reducing bleeding.
The type of virus used in this medicine ('adeno-associated virus') does not cause disease in humans.
The effects of this medicine have been evaluated in experimental models.
At the time of submission of the application for orphan designation, a clinical trial with the medicine in patients with haemophilia A was ongoing.
At the time of submission, the medicine was not authorised anywhere in the EU for haemophilia A. Orphan designation of the medicine had been granted in the United States for this condition.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 19 April 2018 recommending the granting of this designation.
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.
Baxalta Innovations GmbH
Industriestrasse 67
A-1221 Vienna
Austria
Tel. +43 1 20 100 0
Fax +43 1 20 100 247 5990
E-mail: EU.RA.Info@baxalta.com
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
For contact details of patients’ organisations whose activities are targeted at rare diseases, see:
European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: