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Orphan designation

Please note that this product was withdrawn from the Community Register of designated Orphan Medicinal Products in March 2014 on request of the Sponsor.

On 21 June 2011, orphan designation (EU/3/11/873) was granted by the European Commission to TMC Pharma Services Ltd, United Kingdom, for human dermal fibroblasts cultured on a bioresorbable polyglactin mesh for the treatment of epidermolysis bullosa.

The sponsorship was transferred to Shire Pharmaceuticals Ireland Limited, Ireland, in June 2012.

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

What is epidermolysis bullosa?

Epidermolysis bullosa is an inherited disease of the skin that affects mainly 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 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.

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

At the time of designation, epidermolysis bullosa affected less than 0.6 in 10,000 people in the European Union (EU)*. This is equivalent to a total of fewer than 30,000 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 506,300,000 (Eurostat 2011).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU to treat epidermolysis bullosa. A high standard of personal hygiene and skincare were recommended 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.

How is this medicine expected to work?

The medicine is made up of ‘fibroblasts’ that have been grown in the laboratory to be used as a skin substitute. Fibroblasts are specialised cells in the inner layers of the skin that produce proteins such as collagen and form the ‘connective tissue’, the tissue that supports the skin and internal organs. The fibroblasts in this medicine have been grown on a mesh scaffold so that they can be used like a skin graft. Once implanted, the mesh dissolves naturally and the fibroblasts settle into the wound, where they are expected to help the healing process by providing proteins that promote the growth of blood vessels and epidermis.

What is the stage of development of this medicine?

The effects of human dermal fibroblasts cultured on a bioresorbable polyglactin mesh have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with the medicine for various wound repair indications were ongoing.

At the time of submission, the medicine was authorised in the United States under the trade name Dermagraft for the treatment of diabetic foot ulcer.

At the time of submission, the medicine 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 9 March 2011 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>Human dermal fibroblasts cultured on a bioresorbable polyglactin mesh</p>
Active substanceHuman dermal fibroblasts cultured on a bioresorbable polyglactin mesh
Medicine Name
Disease/conditionTreatment of epidermolysis bullosa
Date of decision21/06/2011
Orphan decision numberEU/3/11/873

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:

Shire Pharmaceuticals Ireland Limited
5 Riverwalk, Citywest Business Campus
Dublin 24
Tel. +353 14297700
Fax +353 1 4297701

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.