EU/3/07/454 - orphan designation for treatment of glycogen storage disease type II (Pompe's disease)

recombinant adeno-associated viral vector containing human acid alfa-glucosidase-gene

Overview

Please note that this product was withdrawn from the Community Register of designated orphan medicinal products in August 2010 on request of the sponsor.

On 9 July 2007, orphan designation (EU/3/07/454) was granted by the European Commission to The Matthews Consultancy Ltd, United Kingdom, for recombinant adeno-associated viral vector containing human acid alpha-glucosidase-gene for the treatment of glycogen storage disease type II (Pompe's disease).

The Matthews Consultancy Ltd changed its name to TMC Pharma Services Ltd in October 2009.

What is glycogen storage disease type II (Pompe's disease)?

Patients with glycogen storage disease type II (Pompe's disease) do not have enough of a protein called alpha-glucosidase. This protein is an enzyme, whose function is to break down glycogen (a “storage” carbohydrate) to glucose. If the protein is not present, glycogen builds up in certain tissues, particularly the heart and muscle tissue (including the diaphragm, the main breathing muscle under the lungs). The progressive build-up of glycogen causes a wide range of signs and symptoms, including an enlarged heart, breathing difficulties and muscle weakness. The disease can appear at birth but also later in life (late-onset). The condition is chronically debilitating and life-threatening.

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

At the time of designation, Pompe disease affected approximately 2.7 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 134,000 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 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 498,000,000 (Eurostat 2006).

What treatments are available?

Enzyme replacement therapies are currently authorised in the Community for the treatment of glycogen storage disease type II (Pompe's disease), to provide patients with the enzyme they are lacking.
Satisfactory argumentation has been submitted by the sponsor to justify the assumption that recombinant adeno-associated viral vector containing human acid alpha-glucosidase-gene might be of potential significant benefit for the treatment of glycogen storage disease type II (Pompe's disease). This assumption will have to be confirmed at the time of marketing authorisation. This will be necessary to maintain the orphan status.

How is this medicine expected to work?

Recombinant adeno-associated viral vector containing human acid alpha-glucosidase-gene is a medicinal product which uses a virus to carry the gene necessary for the production of the missing protein (acid alpha-glucosidase). A virus is a small organism capable of introducing genetic material in cells. The type of virus (adeno-associated virus) used in this medicinal product is modified in order to avoid causing any disease in humans. The administration of the virus containing the human acid alpha-glucosidase gene is expected to increase the concentration of acid alpha-glucosidase over a long period.

What is the stage of development of this medicine?

The effects of recombinant adeno-associated viral vector containing human acid alpha-glucosidase-gene were evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials in patients with glycogen storage disease type II (Pompe's disease) had yet started.

Recombinant adeno-associated viral vector containing human acid alpha-glucosidase-gene was not authorised anywhere in the world for glycogen storage disease type II (Pompe's disease), or designated as orphan medicinal product elsewhere for this condition, at the time of submission.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 31 May 2007 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 Community) 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/3/07/454: Public summary of positive opinion for orphan designation of recombinant adeno-associated viral vector containing human acid alpha-glucosidase-gene for the treatment of glycogen storage disease type II (Pomp...

Adopted Reference Number: EMA/COMP/243140/2007

Key facts

• Active substance:
  recombinant adeno-associated viral vector containing human acid alfa-glucosidase-gene
• Intended use:
  Treatment of glycogen storage disease type II (Pompe's disease)
• Orphan designation status:
  Withdrawn
• EU designation number:
  EU/3/07/454
• Date of designation:
  09/07/2007
• Sponsor:

  TMC Pharma Services Ltd;