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Orphan designation

Please note that this product was withdrawn from the Community Register of designated Orphan Medicinal Products in July 2017 on request of the sponsor.

On 12 March 2013, orphan designation (EU/3/13/1110) was granted by the European Commission to Orphazyme ApS, Denmark, for recombinant human heat-shock protein 70 for the treatment of Niemann-Pick’s disease type C.

What is Niemann-Pick’s disease type C?

Niemann-Pick's disease is a group of inherited disorders belonging to the larger family of metabolic disorders called ‘lysosomal storage diseases’, in which fats accumulate within lysosomes (part of the body’s cells, which break down nutrients and other materials).

In Niemann-Pick's disease type C, transporter proteins needed to move fatty substances in the cells are abnormal, leading to the build-up of fats such as cholesterol within cells in the brain and elsewhere in the body (such as the spleen and liver). This causes a wide range of symptoms, including behavioural problems, learning disabilities and difficulty moving and speaking.

Niemann-Pick's disease type C is chronically debilitating and life-threatening since the build-up of fatty substances can cause brain damage and swelling of the spleen and the liver.

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

At the time of designation, Niemann-Pick's disease type C affected approximately 0.1 in 10,000 people in the European Union (EU). This was equivalent to a total of around 5,000 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 27), Norway, Iceland and Liechtenstein. This represents a population of 509,000,000 (Eurostat 2013).

What treatments are available?

At the time of designation, Zavesca (miglustat) was authorised in the EU to treat Niemann-Pick's disease type C. The sponsor has provided sufficient information to show that this medicine might be of significant benefit for patients with the disease because of its novel mechanism of action, which involves stabilising the lysosomes within the cells and was shown to results in improved effects in experimental models compared with current treatment. 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 a ‘heat-shock protein’, a type of protein in the body that is involved in protecting cells by stabilising proteins and folding back proteins that have been damaged by stresses such as high temperatures (heat shock).

In Niemann-Pick's disease type C, the medicine is expected to protect cells by stabilising the membranes of the lysosomes. This stabilisation involves activating sphingomyelinase, a protein involved in the processing of fats within the lysosomes, thereby reducing the accumulation of fats within lysosomes.

The medicine is to be delivered by injection into a vein and is expected to be able to cross the barrier that separates the blood from the brain tissue (the blood-brain barrier), thereby reaching the brain, as well as the other organs affected by the condition.

The heat-shock protein is produced by a method known as ‘recombinant DNA technology’: it is made by cells that have received a gene (DNA), which makes them able to produce the protein.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, the evaluation of the effects of the medicinal product in experimental models was ongoing.

At the time of submission of the application for orphan designation, no clinical trials with the medicinal product in patients with Niemann-Pick's disease type C had been started.

At the time of submission, the medicinal product was not authorised anywhere in the EU for Niemann-Pick's disease type C 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 6 February 2013 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>Recombinant human heat-shock protein 70</p>
Active substanceRecombinant human heat-shock protein 70
Medicine Name
Disease/conditionTreatment of Niemann-Pick’s disease, type C
Date of decision12/03/2013
Orphan decision numberEU/3/13/1110

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

Orphazyme ApS
Ole Maaløes Vej 3
2200 Copenhagen
Tel. +45 293 464 30

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.