EU/3/13/1124

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Orphan designation

On 26 April 2013, orphan designation (EU/3/13/1124) was granted by the European Commission to International Niemann-Pick Disease Alliance (INPDA), United Kingdom, for 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick disease, type C.

What is Niemann-Pick disease, type C?

Niemann-Pick 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 (partS of the body’s cells that break down nutrients and other materials).

In Niemann-Pick disease type C, there is a lack of transporter proteins that are needed to move fatty substances such as cholesterol and other fats within cells, leading to their build-up 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 disease type C is chronically debilitating and life threatening since the build-up of fatty substances can cause brain damage and swelling of organs such as the spleen and the liver.

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 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 disease, type C.

The sponsor has provided sufficient information to show that 2-hydroxypropyl-β-cyclodextrin might be of significant benefit for patients with Niemann-Pick disease, type C because results from studies in experimental models show that it might improve survival of patients with this condition when used in combination with existing 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?

2-Hydroxypropyl-β-cyclodextrin is a cyclic oligosaccharide (a type of carbohydrate). In Niemann-Pick disease type C, it is expected to reduce the accumulation of fats in the lysosomes by forming a complex with the cholesterol inside the lysosomes, which allows the fats to leave the lysosomes and enter into the wider cell, where they can be processed normally.

What is the stage of development of this medicine?

The effects of 2-hydroxypropyl-β-cyclodextrin have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with 2-hydroxypropyl-β-cyclodextrin in patients with Niemann-Pick disease type C had been started.

At the time of submission, 2-hydroxypropyl-β-cyclodextrin was not authorised anywhere in the EU for Niemann-Pick disease type C. Orphan designation of the medicine has 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 13 March 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 align="left">2-Hydroxypropyl-&#946;-cyclodextrin</p>
Active substance2-Hydroxypropyl-β-cyclodextrin
Medicine Name
Disease/conditionTreatment of Niemann-Pick disease type C
Date of decision26/04/2013
OutcomePositive
Orphan decision numberEU/3/13/1124

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

International Niemann-Pick Disease Alliance (INPDA)
Suite 2
Vermont House
Concord
Washington
Tyne and Wear
NE37 2SQ
United Kingdom
Tel. +1 301 217 1077
Fax +1 301 217 5736
E-mail: trnd@mail.nih.gov

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.