• Email
  • Help

Orphan designation

On 8 November 2012, orphan designation (EU/3/12/1070) was granted by the European Commission to Advanced Medical Projects, Spain, for recombinant human dyskerin for the treatment of dyskeratosis congenita.

What is dyskeratosis congenita?

Dyskeratosis congenita is an inherited genetic disease that causes a reduction in the activity of an enzyme called telomerase, which is important for cell division. A lack of telomerase activity stops the cells from replicating, thereby promoting the ageing of tissues. The condition typically causes signs and symptoms in children that resemble premature aging, such as abnormal skin pigmentation on the face and chest, abnormal shapes to nails and white patches in the mouth.

Dyskeratosis congenita is a long-term debilitating and life-threatening disease because it is associated with serious health complications including bone marrow failure and the development of various types of cancer.

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

At the time of designation, dyskeratosis congenita affected approximately 0.01 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 500 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 506,300,000 (Eurostat 2011).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU to treat dyskeratosis congenita.

How is this medicine expected to work?

In patients with dyskeratosis congenita there is a defect in one of the parts of telomerase, called dyskerin. Recombinant human dyskerin is expected to replace the defective dyskerin, thereby allowing the telomerase to function properly in cells.

The medicine is made by a method known as ‘recombinant DNA technology’: it is made by bacteria that have received a gene (DNA) that makes them able to produce dyskerin. It has also been modified by a process called ‘pegylation’. This means that a chemical called ‘polyethylene glycol’ has been attached to dyskerin. This is expected to decrease the rate at which dyskerin is removed from the body, allowing the medicine to be given less often.

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 recombinant human dyskerin in experimental models was ongoing.

At the time of submission of the application for orphan designation, no clinical trials with recombinant human dyskerin in patients with dyskeratosis congenita had been started.

At the time of submission, recombinant human dyskerin was not authorised anywhere in the EU for dyskeratosis congenita 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 5 October 2012 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 dyskerin</p>
Active substanceRecombinant human dyskerin
Medicine Name
Disease/conditionTreatment of dyskeratosis congenita
Date of decision08/11/2012
Orphan decision numberEU/3/12/1070

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

Advanced Medical Projects
C/ Arturo Duperier 4
28029 Madrid

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.