EU/3/17/1896 - orphan designation for treatment of pachyonychia congenita
sirolimus
OrphanHuman
Overview
On 17 July 2017, orphan designation (EU/3/17/1896) was granted by the European Commission to Raremoon Consulting Ltd, United Kingdom, for sirolimus (also known as PTX-001) for the treatment of pachyonychia congenita.
The sponsorship was transferred to Raremoon Consulting Esp S.L., Spain, in May 2020.
Pachyonychia congenita is an inherited skin condition in which the patient develops painful blisters and callouses on the palms and soles of the feet, thickened finger and toenails, and ulcers on the inside of the mouth. The disease is caused by mutations (defects) in the genes for keratin (the tough fibrous protein found in the skin and nails), which result in the production of abnormal keratin.
Pachyonychia congenita is a long-term debilitating disease because the painful blisters and callouses make walking difficult or impossible.
At the time of designation, pachyonychia congenita affected less than 0.01 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 500 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 28), Norway, Iceland and Liechtenstein. This represents a population of 515,700,000 (Eurostat 2017).
At the time of the application for orphan designation, no satisfactory methods were authorised in the EU for treating pachyonychia congenita. Treatment focused on the relief of symptoms, personal hygiene to help blisters heal, to avoid infections and to protect the skin from damage, and the treatment of any infections that may occur in the affected skin.
The medicine is a cream to apply to the skin which contains the active substance sirolimus. Sirolimus attaches to and blocks a protein called 'mammalian target of rapamycin' (mTOR). Since mTOR is involved in the control of keratin production, sirolimus is expected to reduce the amount of abnormal keratin produced thereby preventing the formation of blisters and callouses.
Sirolimus oral solution and tablets have been used to prevent kidney transplant rejection since 2001.
The effects of this medicine have been evaluated in experimental models.
At the time of submission of the application for orphan designation, a clinical trial with the medicine in patients with pachyonychia congenita had been completed.
At the time of submission, sirolimus was not authorised anywhere in the EU for pachyonychia congenita. Orphan designation of sirolimus had been granted in the US for pachyonychia congenita.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 15 June 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
- sirolimus
- Intended use
- Treatment of pachyonychia congenita
- Orphan designation status
- Positive
- EU designation number
- EU/3/17/1896
- Date of designation
- Sponsor
Raremoon Consulting Esp S.L.
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: