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Orphan designation

On 16 February 2006, orphan designation (EU/3/06/351) was granted by the European Commission to Actelion Registration Ltd, United Kingdom, for miglustat for the treatment of Niemann-Pick disease, type C.

What is Niemann-Pick disease, type C?

Niemann-Pick disease comprises a group of inherited lysosomal storage disorders. Lysosomes are small vesicles within each cell containing enzymes, proteins that are able to destroy or transform different substances of the cell, such as other proteins, fats, nucleic acids (components of the genetic material) and sugars. When there is an alteration of one of the lysosomal enzymes there is abnormal accumulation of the product (the so called substrate) that is not transformed by this particular enzyme. This means that the cells are unable to destroy or eliminate these substrates, resulting in cell damage and malfunction of the organ where the product is accumulated. In Niemann-Pick type C the lysosomal enzyme alteration affects fatty products. The symptomatology and the severity of the disease depends very much on the level of accumulation of fatty substrates such as glycosphingolipids. This accumulation usually induces progressive degeneration of the nervous system and enlargement of some organs like the liver. Niemann-Pick disease type C is chronically debilitating and life threatening.

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

At the time of designation, Niemann-Pick disease, type C affected approximately 0.1 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 4,600 people, and is below the threshold for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and 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 based on data from the European Union (EU 25), Norway, Iceland and Lichtenstein. This represents a population of 459,700,000 (Eurostat 2004).

What treatments are available?

At the time of submission of the application for orphan designation, no satisfactory method had been authorised in the European Union for treatment of the condition.

How is this medicine expected to work?

Miglustat is expected to block (inhibit) the action of an enzyme (glucosylceramide synthase) involved in the production of one of the substrates, the glycosphingolipids that accumulated in Niemann-Pick disease type C. It is expected that if the amount of the accumulated substance will decrease, it might help to limit the extent of the damage and the clinical consequences of the disease.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, clinical trials in patients with Niemann-Pick type C were ongoing.

Miglustat was not authorised anywhere worldwide for Niemann-Pick type C, at the time of submission. Orphan designation of miglustat was previously granted in the EU for Gaucher disease.

According to Regulation (EC) No 141/2000 of 16 December 1999, the Committee for Orphan Medicinal Products (COMP) adopted on 11 January 2006 a positive opinion recommending the grant of the above-mentioned designation.

Update: Miglustat (Zavesca) has been authorised in the EU since 26 January 2009 for the treatment of progressive neurological manifestations in adult patients and paediatric patients with Niemann-Pick type C disease.

Opinions on orphan medicinal products designations are based on the following cumulative 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 Community) or insufficient returns on investment.

Designated orphan medicinal products are still investigational products which were considered for designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of the quality, safety and efficacy will be necessary before this product can be granted a marketing authorisation.

Key facts

Product details for <p>Miglustat</p>
Active substanceMiglustat
Medicine NameZavesca
Disease/conditionTreatment of Niemann-Pick disease, type C
Date of decision16/02/2006
Orphan decision numberEU/3/06/351

Review of designation

Sponsor’s contact details:

Actelion Registration Ltd
BSI Building
13th Floor
389 Chiswick High Road
London W4 4AL
United Kingdom
Telephone: +44 20 89 87 33 33
Telefax: +44 20 89 87 33 22

Patients’ associations contact points:

CLIMB : Children Living with Inherited Metabolic Diseases
Climb Building
176 Nantwich Road
Crewe CW2 6BG
United Kingdom
Telephone: +44 870 77 00 32 6
Telefax: +44 870 77 00 32 7

Fundación Niemann Pick de España
Avda. Alacant, 2, 1º, 1ª
25001 Lleida
Telephone: +34 902 12 20 01

Vaincre les Maladies Lysosomales (VML)
2 Ter Avenue de France
91300 Massy
Telephone: + 33 1 69 75 40 30
Telefax: +33 1 60 11 15 83