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Orphan designation

On 26 November 2010, orphan designation (EU/3/10/814) was granted by the European Commission to Baxter Innovations GmbH, Austria, for recombinant human von Willebrand factor for the treatment of von Willebrand disease.

In May 2015, Baxter Innovations GmbH changed name to Baxalta Innovations GmbH.

What is von Willebrand disease?

Von Willebrand disease is a hereditary bleeding disorder caused by the deficiency of von Willebrand factor, a protein in the blood that helps the blood to clot and prevents excessive bleeding.

There are various forms of the disease. Patients with very mild symptoms may be unaware of it. However, those patients with the most severe forms of the disease have excessive and prolonged bleeding that may be life threatening.

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

At the time of designation, von Willebrand disease affected less than 2 in 10,000 people in the European Union (EU)*. This is equivalent to a total of fewer than 101,000 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. This represents a population of 506,500,000 (Eurostat 2010).

What treatments are available?

At the time of designation, the main treatments authorised in the EU for von Willebrand disease were desmopressin (a synthetic hormone that stimulates the body to release more von Willebrand factor) and plasma concentrates containing von Willebrand factor.

The sponsor has provided sufficient information to show that recombinant human von Willebrand factor might be of significant benefit for patients with von Willebrand disease because early studies show that the medicine has a sustained activity over time that may lead to an improved control of bleeding compared with plasma-derived products. 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?

This medicine is expected to work by replacing the von Willebrand factor, which is missing in patients with von Willebrand disease. The replacement protein is expected to help control bleeding. The medicine is produced by a method known as ‘recombinant DNA technology’: it is made by cells that have received a gene (DNA), which makes them able to produce von Willebrand factor.

What is the stage of development of this medicine?

The effects of recombinant human von Willebrand factor have been evaluated in experimental models.

At the time of submission of the application for orphan designation, a clinical trial with recombinant human von Willebrand factor in patients with von Willebrand disease was ongoing.

At the time of submission, recombinant human von Willebrand factor was not authorised anywhere in the EU for von Willebrand disease 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 9 September 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 human von Willebrand factor</p>
Active substanceRecombinant human von Willebrand factor
Medicine Name
Disease/conditiontreatment of von Willebrand disease
Date of decision26/11/2010
Orphan decision numberEU/3/10/814

Review of designation

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

Sponsor’s contact details

Baxalta Innovations GmbH
Industriestrasse 67
A – 1221 Vienna
Telephone: +43 1 20 100 247 2542
Telefax: +43 1 20 100 547 5990

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.