EU/3/14/1243

On 19 February 2014, orphan designation (EU/3/14/1243) was granted by the European Commission to QOL Therapeutics UK Ltd, United Kingdom, for recombinant human acid ceramidase for the treatment of Farber disease.

The sponsorship was transferred to Plexcera Therapeutics EU Limited, Ireland, in April 2015.

What is Farber disease?

Farber disease is an inherited disease that affects the metabolism of lipids (the breakdown and use of fats in the body). Patients with the disease lack an enzyme called ‘acid ceramidase’, which is essential for the breakdown of fats. In the absence of this enzyme, fats accumulate abnormally in cells and tissues throughout the body, particularly around the joints. Farber disease usually manifests itself during infancy with three classic signs: swollen and painful joints, small lumps (nodules) under the skin and a hoarse voice or a weak cry. Affected individuals may also have difficulty breathing, an enlarged liver and spleen, and developmental delay.

Farber disease is a long-term debilitating condition which, in its most severe forms, can be life-threatening because of its effects on several organs.

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

At the time of designation, Farber disease affected less than 0.01 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 500 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).

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*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. At the time of designation, this represented a population of 512,900,000 (Eurostat 2014).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of Farber disease.

How is this medicine expected to work?

This medicine is a copy of the enzyme acid ceramidase naturally produced by the body. It is expected to work by replacing the missing enzyme and therefore restoring the body’s ability to break down and use fats.

The medicine is made by a method known as ‘recombinant DNA technology’: it is made by cells into which a gene (DNA) has been introduced that makes them able to produce human acid ceramidase.

What is the stage of development of this medicine?

The effects of recombinant human acid ceramidase have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with this medicine in patients with Farber disease had been started.

At the time of submission, recombinant human acid ceramidase was not authorised anywhere in the EU for Farber disease. 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 9 January 2014 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.

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