EU/3/18/2007 - orphan designation for treatment of glycogen storage disease type II (Pompe's disease)
adeno-associated viral vector serotype 8 containing the human acid alpha-glucosidase gene
OrphanHuman
Overview
Please note that this product was withdrawn from the Union Register of orphan medicinal products in June 2024 on request of the Sponsor.
On 16 April 2018, orphan designation (EU/3/18/2007) was granted by the European Commission to Dr Philippe Moullier, France, for adeno-associated viral vector serotype 8 containing the human acid alpha-glucosidase gene (also known as AAV2/8-LSPhGAA) for the treatment of glycogen storage disease type II (Pompe's disease).
Glycogen storage disease type II, also known as Pompe's disease, is an inherited disorder caused by the lack of an enzyme called acid alpha glucosidase (GAA). This enzyme is contained in lysosomes (part of the body's cells that breaks down nutrients and other materials). GAA breaks down glycogen (a complex sugar stored in the body) into glucose (a simple sugar). When this enzyme is lacking, large amounts of glycogen build up in the muscles, including the heart and diaphragm (the main breathing muscle under the lungs). The progressive build-up of glycogen causes a wide range of signs and symptoms, including heart problems, breathing difficulties and muscle weakness.
Glycogen storage disease type II is a long-term debilitating and life-threatening disease because it causes breathing and heart problems and is associated with premature death.
At the time of designation, glycogen storage disease type II 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, Myozyme (alglucosidase alfa) was authorised for the treatment of glycogen storage disease type II in the EU. Myozyme is an 'enzyme replacement therapy' that works by replacing the missing GAA enzyme.
The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with glycogen storage disease type II because laboratory studies showed that, when used together with enzyme replacement therapy, the medicine improves muscle function and lowers glycogen levels better than the authorised treatment alone. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
This medicine is made of a virus containing the gene for the GAA enzyme, which is lacking in patients with glycogen storage disease type II. The virus has been designed so that it can enter liver cells after injection and enable them to produce the enzyme. By replacing the missing enzyme in this way, the medicine is expected to help relieve symptoms of the disease.
The type of virus used in this medicine ('adeno-associated virus') does not cause disease in humans.
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 glycogen storage disease type II had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for glycogen storage disease type II. Orphan designation of the medicine had been granted in the United States for Pompe disease.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 15 March recommending the granting of this designation.
- 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
- Active substance
- adeno-associated viral vector serotype 8 containing the human acid alpha-glucosidase gene
- Intended use
- Treatment of glycogen storage disease type II (Pompe's disease)
- Orphan designation status
- Withdrawn
- EU designation number
- EU/3/18/2007
- Date of designation
- Sponsor
AskBio France
Update history
| Date | Update |
|---|---|
| April 2024 | The sponsor’s name changed to AskBio France. |
| June 2022 | The sponsor’s address was updated in June 2022 |
| February 2022 | The sponsorship was transferred to Brainvectis, France in February 2022 |
EMA list of opinions on orphan medicinal product designation
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
Patients' organisations
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.
EU register of orphan medicines
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: