EU/3/17/1938 - orphan designation for treatment of epidermolysis bullosa
antisense oligonucleotide targeting exon 73 in the COL7A1 gene
OrphanHuman
Overview
Please note that this product was withdrawn from the Union Register of orphan medicinal products in January 2024 on request of the Sponsor.
On 12 October 2017, orphan designation (EU/3/17/1938) was granted by the European Commission to ProQR Therapeutics VII BV, the Netherlands, for antisense oligonucleotide targeting exon 73 in the COL7A1 gene (also known as QR-313) for the treatment of epidermolysis bullosa.
Epidermolysis bullosa is a group of inherited diseases in which the skin is very fragile and forms severe blisters after even minor friction (rubbing) or injury. In most cases, symptoms of epidermolysis bullosa appear from birth, but 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 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 515,700,000 (Eurostat 2017).
At the time of designation, no satisfactory methods were authorised in the EU to treat epidermolysis bullosa. Good 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 for complications such as deformed hands or the development of skin cancer.
The medicine is intended for patients who have epidermolysis bullosa due to a mutation in the COL7A1 gene. This gene normally produces a substance called collagen 7 that helps hold skin layers together. In patients with the mutation, the gene cannot produce working collagen 7.
The medicine is an 'antisense oligonucleotide', a small strand of synthetic genetic material. It has been designed to attach to the mutated area of the COL7A1 gene in skin cells, and to allow production of a shortened but working form of collagen 7. Applying the medicine to the skin is expected to result in improvement in the symptoms of the condition.
At the time of submission of the application for orphan designation, the evaluation of the effects of the medicine in experimental models was ongoing.
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 5 October 2017 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
- antisense oligonucleotide targeting exon 73 in the COL7A1 gene
- Intended use
- Treatment of epidermolysis bullosa
- Orphan designation status
- Withdrawn
- EU designation number
- EU/3/17/1938
- Date of designation
- Sponsor
IDEA Innovative Drug European Associates (Ireland) Limited
Unit 13 Classon House
Dundrum Business Park
Dundrum Road
Dublin 14
D14 W9Y3
IrelandE-mail: inquires@krystalbio.com
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
Update history
| Date | Update |
|---|---|
| July 2022 | The sponsor’s address was updated in July 2022. |
| September 2019 | The sponsorship was transferred to IDEA Innovative Drug European Associates (Ireland) Limited, Ireland, in September 2019. |
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: