EU/3/20/2303 - orphan designation for treatment of glycogen storage disease type II (Pompe's disease)
Adeno-associated viral vector expressing acid alpha-glucosidase gene
OrphanHuman
Overview
On 27 July 2020, orphan designation EU/3/20/2303 was granted by the European Commission to Audentes Therapeutics Netherlands B.V., the Netherlands, for adeno-associated viral vector expressing acid alpha-glucosidase gene for the treatment of glycogen storage disease type II (Pompe's disease).
The sponsorship was transferred to Astellas Pharma Europe B.V.in September 2020.
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 2.7 in 10,000 people in the European Union (EU). This was equivalent to a total of around 140,000 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This isbased on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).
*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, Iceland, Liechtenstein, Norway and the United Kingdom. This represents a population of 519,200,000 (Eurostat 2020).
At the time of submission of the application for orphan 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 early studies in experimental models suggest that it may have a longer-lasting effect than the authorised treatment, which is given more frequently.
This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
The medicine is made of a virus that has been modified to contain the gene for GAA, the enzyme that is lacking in patients with glycogen storage disease type II. When injected into the patient, the virus is expected to carry the gene into muscle cells and enable them to produce GAA. By replacing the missing enzyme in this way, the medicine is expected to improve symptoms of the disease.
The type of virus used in this medicine ('adeno-associated virus') does not cause disease in humans.
The effects of adeno-associated viral vector expressing acid alpha-glucosidase gene 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 the treatment of glycogen storage disease type II. Orphan designation had been granted in the United States for this condition.
In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 18 June 2020, 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 expressing acid alpha-glucosidase gene
- Intended use
- Treatment of glycogen storage disease type II (Pompe's disease)
- Orphan designation status
- Positive
- EU designation number
- EU/3/20/2303
- Date of designation
- Sponsor
Astellas Pharma Europe B.V.
Sylviusweg 62
2333 BE Leiden
Zuid-Holland
Netherlands
E-mail: contact@nl.astellas.com
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
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: