Please note that this product was withdrawn from the Union Register of orphan medicinal products in January 2025 on request of the Sponsor.
On 10 August 2015, orphan designation (EU/3/15/1540) was granted by the European Commission to Laboratorios del Dr. Esteve, S.A., Spain, for adeno-associated viral vector serotype 9 containing the human iduronate-2-sulfatase gene for the treatment of mucopolysaccharidosis type II (Hunter's syndrome).
In September 2018, Laboratorios del Dr. Esteve, S.A changed name to Esteve Pharmaceuticals, S.A. The sponsor’s address was updated in September 2018.
Mucopolysaccharidosis type II (also known as Hunter's syndrome) is an inherited disease that is caused by the lack of an enzyme called iduronate-2-sulfatase. This enzyme is needed to break down substances in the body called glycosaminoglycans (GAGs). Since patients with Hunter syndrome cannot break these substances down, the GAGs gradually build up in most of the organs in the body and damage them. This causes a wide range of symptoms, particularly difficulty breathing, difficulty walking and behavioural problems. Without treatment, these symptoms become more severe over time.
Mucopolysaccharidosis type II primarily affects male patients. It is a seriously debilitating and life-threatening disease that leads to mental disability and death during youth.
At the time of designation, mucopolysaccharidosis type II affected not more than 1 in 10,000 people in the European Union (EU). This was equivalent to a total of not more than 51,000 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 512,900,000 (Eurostat 2015).
At the time of designation, the medicine Elaprase (idursulfase) was authorised in the EU for the treatment of mucopolysaccharidosis type II. This is an enzyme replacement therapy which works by providing patients with the enzyme they are lacking. Some patients underwent transplantation to receive haematopoietic (blood) stem cells that are able to produce the missing enzyme.
The sponsor has provided sufficient information to show that the medicine 'adeno-associated viral vector serotype 9 containing the human iduronate-2-sulfatase gene' might be of significant benefit for patients with mucopolysaccharidosis type II because studies in experimental models indicate that it might improve the outcome of patients with this condition. 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 iduronate-2-sulfatase enzyme, which is lacking in patients with mucopolysaccharidosis type II. When injected into the patient, the virus is expected to carry the gene into the body cells, enabling the cells to start producing the enzyme. As a result the cells will be able to break down the accumulated GAGs, thereby helping to relieve the 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 mucopolysaccharidosis type II had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for mucopolysaccharidosis type II. It has since been designated as an orphan medicinal product in the United States for this condition.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 16 July 2015 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.
Esteve Pharmaceuticals, S.A.
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
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.
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: