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Please note that this product was withdrawn from the Union Register of orphan medicinal products in February 2026 on request of the Sponsor.
On 28 June 2019 orphan designation EU/3/19/2175 was granted by the European Commission to Spark Therapeutics Ireland Limited, Ireland, for recombinant adeno-associated viral vector containing a bioengineered capsid derived from AAV-rh74 and a codon-optimised expression cassette to drive the expression of a secretable form of human acid alpha-glucosidase (also known as SPK-3006) 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 break 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 0.3 in 10,000 people in the European Union (EU). This was equivalent to a total of around 16,000 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 518,400,000 (Eurostat 2019).
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 suggested that a single dose of the medicine could increase GAA activity for a long period and improve muscle strength. 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 that has been modified to contain the GAA gene. When injected into the patient, the virus is expected to carry the gene into the liver cells, enabling them to start producing the GAA enzyme, which is then carried around the body. This is expected to replace the missing GAA and break down and reduce the build-up of glycogen, thereby improving the symptoms of the disease.
The type of virus used in this medicine (adeno-associated virus) does not cause viral disease in humans.
At the time of submission of the application for orphan designation, the evaluation of the effects of the medicine in experimental models was ongoing.
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 of the medicine 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 23 May 2019, 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.
Spark Therapeutics Ireland Limited
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: