EU/3/10/845: Orphan designation for the treatment of epidermolysis bullosa

Epidermolysis bullosa is an inherited disease of the skin that mainly affects babies and children, in which the outer layer of the skin, the epidermis, separates from the inner layer, the dermis. This makes the skin very fragile and causes severe blistering and scarring. The disease is caused by abnormalities in the genes responsible for the production of the proteins that make the skin strong and elastic, such as collagen.

Epidermolysis bullosa is a disease that is debilitating in the long term and may be life threatening, mainly because of the severe blistering, which results in poor quality of life and reduced life expectancy.

At the time of designation, epidermolysis bullosa affected less than 0.5 in 10,000 people in the European Union (EU)*. This is equivalent to a total of fewer than 25,000 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 506,500,000 (Eurostat 2010).

At the time of application, no satisfactory methods were authorised in the EU to treat epidermolysis bullosa. Patients were advised to maintain a high standard of personal hygiene and skincare to help blisters heal, to avoid infections and to protect the skin from damage. Painkillers were also used.

Surgery was sometimes necessary if there were complications such as deformed hands or the development of skin cancer.

Dry extract from birch bark (DER 0.1-0.2:1), extraction solvent n-heptane 95% (V/V) is a herbal product that contains naturally-occurring substances known as triterpenes. Triterpenes are expected to have an effect on the cells in the epidermis, called keratinocytes, by speeding up the multiplication and development of these cells. When applied to wounds and blisters in the form of an ointment, its effect on the keratinocytes is expected to speed up the body's wound repair process.

The effects of the medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with dry extract from birch bark in patients with epidermolysis bullosa had been started.

At the time of submission, dry extract from birch bark was not authorised anywhere in the EU for epidermolysis bullosa 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 8 December 2010 recommending the granting of this designation.

• 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.