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Orphan designation

On 17 December 2010, orphan designation (EU/3/10/827) was granted by the European Commission to HungaroTrial Ltd, Hungary, for recombinant human lysosomal acid lipase for the treatment of lysosomal acid lipase deficiency.

The sponsorship was transferred to Synageva BioPharma Ltd, United Kingdom, in August 2011.

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

What is lysosomal acid lipase deficiency?

Lysosomal acid lipase deficiency is an inherited disease caused by the lack of one of the enzymes needed to break down fats within cells. In the absence of this enzyme, called lysosomal acid lipase, fats accumulate in the body’s cells and tissues, causing symptoms such as growth failure, enlarged liver, diarrhoea and malabsorption (when nutrients from food are not easily absorbed during digestion).

Lysosomal acid lipase deficiency is a severe and life-threatening disease which, in its most severe form, is usually fatal in the first year of life.

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

At the time of designation, lysosomal acid lipase deficiency affected less than 0.2 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 10,000 people*, and is below the threshold 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 506,300,000 (Eurostat 2010).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of lysosomal acid lipase deficiency. Patients were advised to follow a diet low in fats. In some cases, haematopoietic (blood) stem cell transplantation had been used, but with modest results. This is a complex procedure where the patient receives stem cells from a matched donor to help restore the bone marrow.

How is this medicine expected to work?

Recombinant human lysosomal acid lipase is an ‘enzyme replacement therapy’ that is expected to work by replacing the missing enzyme in lysosomal acid lipase deficiency, helping to break down fats and stopping them building up in the body’s cells.

Recombinant human lysosomal acid lipase is produced by a method known as ‘recombinant DNA technology’: it is extracted from the eggs of hens that have been given genes that make them able to produce an exact copy of the human enzyme in their eggs.

What is the stage of development of this medicine?

The effects of recombinant human lysosomal acid lipase 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 lysosomal acid lipase deficiency had been started.

At the time of submission, recombinant human lysosomal acid lipase was not authorised anywhere in the EU for the treatment of lysosomal acid lipase deficiency. Orphan designation of the medicine had been granted in the United States of America for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 7 October 2010 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 lysosomal acid lipase</p>
Active substanceRecombinant human lysosomal acid lipase
Medicine Name
Disease/conditionTreatment of lysosomal acid lipase deficiency
Date of decision17/12/2010
Orphan decision numberEU/3/10/827

Review of designation

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

Related information

Sponsor’s contact details

Synageva BioPharma Ltd
1A Local Board Road
Hertfordshire WD17 2JP
United Kingdom
Tel. +44 (0)1923 602602
Fax +44 (0)1923 396730

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.