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Orphan designation

On 17 January 2018, orphan designation (EU/3/17/1955) was granted by the European Commission to Quintiles Ireland Limited, Ireland, for adeno-associated viral vector serotype 2/6 encoding zinc-finger nucleases and the human alpha L-iduronidase gene (also known as SB-318) for the treatment of mucopolysaccharidosis type I.

In May 2018 the sponsor, Quintiles Ireland Limited changed name to IQVIA RDS Ireland Limited.

The sponsor’s address was updated in June 2018.

What is mucopolysaccharidosis type I?

Mucopolysaccharidosis type I is an inherited disease that is caused by the lack of an enzyme called alpha-L-iduronidase. This enzyme is needed to break down substances in the body called glycosaminoglycans (GAGs). Since patients with mucopolysaccharidosis type I cannot break GAGs down properly, GAGs gradually build up in various organs in the body and damage them. This can cause a range of symptoms including impaired vision, developmental delay, mental disability, progressive joint stiffness and skeletal problems, breathing difficulties, enlarged liver and heart disease. The condition varies in severity, with the mildest form known as Scheie syndrome and the most severe as Hurler syndrome.

Mucopolysaccharidosis type I is a long-term debilitating and life-threatening disease that leads to multiple disabilities and can result in premature death.

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

At the time of designation, mucopolysaccharidosis type I affected approximately 0.05 in 10,000 people in the European Union (EU). This was equivalent to a total of around 3,000 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 28), Norway, Iceland and Liechtenstein. This represents a population of 515,700,000 (Eurostat 2017).

What treatments are available?

At the time of designation, the medicine Aldurazyme (laronidase) was authorised in the EU to treat some of the symptoms of mucopolysaccharidosis type I by replacing the missing enzyme (enzyme replacement therapy). Some patients were treated with haematopoietic stem cell transplantation, a procedure where the patient’s bone marrow is replaced by stem cells from a donor; the stem cells are able to develop into normal blood cells that can produce the missing enzyme.

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with mucopolysaccharidosis type I because laboratory studies indicate that it may slow down the worsening of the patient’s mental functions. 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?

This medicine is made of a virus containing the gene for the alpha-L-iduronidase enzyme, which is lacking in patients with mucopolysaccharidosis type I. When given to the patient, the virus is expected to carry the gene into the liver cells, enabling these cells to start producing the enzyme. The enzyme is then expected to enter the blood and be taken up by cells in various other organs, including the brain. As a result, the cells will be able to break down the GAGs, thereby helping to relieve 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 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 I had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for mucopolysaccharidosis type I. Orphan designation of the medicine had been granted 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 7 December 2017 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 serotype 2/6 encoding zinc-finger nucleases and the human alpha L-iduronidase gene</p>
Active substanceAdeno-associated viral vector serotype 2/6 encoding zinc-finger nucleases and the human alpha L-iduronidase gene
Medicine Name
Disease/conditionTreatment of mucopolysaccharidosis type I
Date of decision17/01/2018
Orphan decision numberEU/3/17/1955

Review of designation

Sponsor’s contact details

Sangamo Therapeutics UK LTD
C/O Jag Shaw Baker
5th Floor Berners House
47-48 Berners Street
London W1T 3NF
United Kingdom
Tel. +44 (0)7768 237 340

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.