EU/3/16/1611 - orphan designation for treatment of epidermolysis bullosa

ex-vivo-expanded autologous fibroblasts transduced with lentiviral vector containing the COL7A1 gene

Overview

On 17 February 2016, orphan designation (EU/3/16/1611) was granted by the European Commission to Dr Waseem Qasim, United Kingdom, for ex-vivo-expanded autologous fibroblasts transduced with lentiviral vector containing the COL7A1 gene for the treatment of epidermolysis bullosa.

What is epidermolysis bullosa?

Epidermolysis bullosa describes a group of diseases of the skin, in which the skin is very fragile and forms severe blisters upon minor mechanical friction or injury. The condition usually is present from birth, although some forms occur in adults. The diseases are caused by abnormalities in the genes responsible for the production of certain proteins that make the skin strong and elastic, such as collagen or keratins.

Epidermolysis bullosa is a long-term debilitating and life-threatening condition because the severe blistering and associated scarring and deformities result in poor quality of life and may also reduce life expectancy.

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

At the time of designation, epidermolysis bullosa affected less than 1 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 51,000 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).

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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. This represents a population of 513,700,000 (Eurostat 2016).

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?

COL7A1 is a gene that produces a protein called 'collagen 7', which helps to hold skin layers together. Mutation (change) in this gene can cause epidermolysis bullosa.

This medicine is prepared individually for patients who have epidermolysis bullosa due to the COL7A1 mutation. It consists of patient's own cells called fibroblasts. These cells are grown in the laboratory and modified with a virus that has been engineered to carry a normal copy of the COL7A1 gene into the cells. The cells are then returned to the patient by an injection into the skin, where they are expected to produce collagen 7, correcting the cause of the condition and preventing blister formation.

What is the stage of development of this medicine?

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 the medicine in patients with epidermolysis bullosa had been started.

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 21 January 2016 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.

EU/3/16/1611: Public summary of opinion on orphan designation: Ex-vivo-expanded autologous fibroblasts transduced with lentiviral vector containing the COL7A1 gene for the treatment of epidermolysis bullosa

Adopted Reference Number: EMA/COMP/68326/2016

Key facts

• Active substance:
  ex-vivo-expanded autologous fibroblasts transduced with lentiviral vector containing the COL7A1 gene
• Intended use:
  Treatment of epidermolysis bullosa
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/16/1611
• Date of designation:
  17/02/2016
• Sponsor:

  Dr Waseem Qasim; UCL-ICH; Molecular & Cellular Immunology; 30 Guildford Street; London WC1N 1EH; United Kingdom; Tel. [phone]; Fax [phone]; E-mail: [e-mail]

Review of designation

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