EU/3/15/1467 - orphan designation for treatment of epidermolysis bullosa
Ex-vivo-expanded autologous human keratinocytes containing epidermal stem cells transduced with a COL17A1-encoding retroviral vector
OrphanHuman
Overview
On 19 March 2015, orphan designation (EU/3/15/1467) was granted by the European Commission to Chiesi Farmaceutici S.p.A, Italy, for ex-vivo-expanded autologous human keratinocytes containing epidermal stem cells transduced with a COL17A1-encoding retroviral vector for the treatment of epidermolysis bullosa.
The sponsorship was transferred to Holostem Terapie Avanzate S.r.l., Italy, in March 2019.
Epidermolysis bullosa describes a group of inherited diseases of the skin, in which the skin is very fragile and forms severe blisters upon minor mechanical friction or injury. In most cases, symptoms of epidermolysis bullosa appear from birth, although for some forms symptoms may not occur until adulthood. The diseases are caused by mutations (changes) 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.
At the time of designation, epidermolysis bullosa affected approximately 0.6 in 10,000 people in the European Union (EU). This was equivalent to a total of around 31,000 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).
*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 512,900,000 (Eurostat 2015).
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.
One of the genes whose mutation can cause epidermolysis bullosa is known as COL17A1, which is needed for normal production of a protein called collagen type 17 that helps to hold skin layers together.
This medicine is a skin graft prepared individually for patients who have epidermolysis bullosa due to the COL17A1 mutation. It consists of a layer of the patient's own skin cells, including the stem cells needed to grow new skin. These cells are grown outside the body and modified with a virus that has been engineered to carry a normal copy of the COL17A1 gene into the cells. The cells are then returned to the patient as a skin graft over areas of blistered skin, where they are expected to produce skin cells with normal collagen type 17, correcting the cause of the condition and preventing blister formation.
At the time of submission of the application for orphan designation, the evaluation of the effects of the medicine in experimental models was ongoing.
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 12 February 2015 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.
Key facts
- Active substance
- Ex-vivo-expanded autologous human keratinocytes containing epidermal stem cells transduced with a COL17A1-encoding retroviral vector
- Intended use
- Treatment of epidermolysis bullosa
- Orphan designation status
- Positive
- EU designation number
- EU/3/15/1467
- Date of designation
- Sponsor
Holostem Terapie Avanzate S.r.l.
Via Glauco Gottardi 100
Modena
MO
41125
Italy
Tel. +39 349 2403930
E-mail: sescretariat@holostem.com
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
EMA list of opinions on orphan medicinal product designation
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
Patients' organisations
For contact details of patients’ organisations whose activities are targeted at rare diseases, see:
European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.
EU register of orphan medicines
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: