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Orphan designation

On 13 May 2011, orphan designation (EU/3/11/864) was granted by the European Commission to Fondazione Telethon, Italy, for adeno-associated viral vector containing the human ARSB gene for the treatment of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

For a list of the administrative updates to this public summary of opinion please refer to the PDF document below.

What is mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)?

Mucopolysaccharidosis VI (also known as Maroteaux-Lamy syndrome) is an inherited disease that is caused by the lack of an enzyme called arylsulfatase B (ARSB). This enzyme is needed to break down substances in the body called glycosaminoglycans (GAGs). If the enzyme is not present, GAGs cannot be broken down and they build up in the cells and damage them. This causes a wide range of symptoms, the most noticeable being a short body, a large head, difficulty moving about, clouding of the eyes and hearing loss. The disease is usually diagnosed in children between one and five years of age.

Mucopolysaccharidosis VI is a debilitating disease that is long lasting and life threatening because of the damage to various parts of the body, particularly the spine, heart and lungs.

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

At the time of designation, mucopolysaccharidosis VI affected less than 1 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 51,000* 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).

*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. At the time of designation, this represented a population of 507,700,000 (Eurostat 2011).

What treatments are available?

At the time of designation, galsulfase was authorised in the EU for the treatment of mucopolysaccharidosis VI. 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 this medicine might be of significant benefit for patients with mucopolysaccharidosis VI because early studies in experimental models show that it might improve the treatment 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.

How is this medicine expected to work?

The medicine is made of a virus that contains normal copies of the ARSB gene, which is responsible for the production of the ARSB enzyme. When injected into the patient, it is expected that the virus carries the ARSB gene into the liver cells, enabling them to produce the missing enzyme. The enzyme is then expected to be transferred to cells throughout the body, where it will break down the accumulated GAGs, 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.

What is the stage of development of this medicine?

The effects of for adeno-associated viral vector containing the human ARSB 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 mucopolysaccharidosis VI had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for mucopolysaccharidosis VI or designated as an orphan medicinal product elsewhere for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 9 February 2011 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 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

Product details for <p>Adeno-associated viral vector containing the human <em>ARSB</em> gene</p>
Active substanceAdeno-associated viral vector containing the human ARSB gene
Medicine Name
Disease/conditionTreatment of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Date of decision13/05/2011
Orphan decision numberEU/3/11/864

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.

Sponsor’s contact details

Fondazione Telethon
Via Varese 16
00185 Roma
Tel. +39 06 44 01 51
Fax +39 06 44 01 55 21

Patients' organisations

For contact details of patients’ organisations whose activities are targeted at rare diseases, see:

  • Orphanet, a database containing information on rare diseases which includes a directory of patients’ organisations registered in Europe.
  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.