EU/3/20/2264 - orphan designation for treatment of autosomal recessive congenital ichthyosis
trifarotene
Orphan
Human
Overview
On 24 March 2020, orphan designation EU/3/20/2264 was granted by the European Commission to Premier Research Group S.L., Spain, for trifarotene (also known as CD5789) for the treatment of autosomal recessive congenital ichthyosis.
Please note that this product was withdrawn from the Union Register of orphan medicinal products in June 2022 on request of the Sponsor.
Autosomal recessive congenital ichthyosis is an inherited skin disorder caused by changes (mutations) in genes responsible for producing proteins that are important for the formation of the outer layer of the skin. The main feature of the disorder is dry, thick, scaly or flaky skin. In its most severe form, children are born prematurely and have problems such as dehydration and difficulties in maintaining a normal body temperature.
Autosomal recessive congenital ichthyosis is a long-term debilitating disease due to the appearance of symptoms at birth or in early childhood. It can cause life-threatening complications in newborn babies including breathing and feeding problems and infections.
At the time of designation, autosomal recessive congenital ichthyosis affected approximately 0.1 in 10,000 people in the European Union (EU). This was equivalent to a total of around 5,000 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).
*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, Iceland, Liechtenstein, Norway and the United Kingdom. This represents a population of 519,200,000 (Eurostat 2020).
At the time of designation, the retinoid medicine acitretin was authorised in some countries of the EU to treat congenital ichthyosis. In addition, basic measures to manage this condition included mechanical scale removal and moisturising the skin.
The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with autosomal recessive congenital ichthyosis because early data in patients previously treated with retinoid medicines by mouth showed improvement when the medicine was applied to the skin.
This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
Trifarotene attaches to a receptor in cells called the retinoic acid receptor gamma, which regulates the production of proteins that are important for the formation of the external layers of the skin. When applied to the skin, the medicine is expected to relieve the symptoms of the condition.
The effects of trifarotene have been evaluated in experimental models.
At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with autosomal recessive congenital ichthyosis were ongoing.
At the time of submission, trifarotene was not authorised anywhere in the EU for the treatment of autosomal recessive congenital ichthyosis. Orphan designation of trifarotene had been granted in the United States for congenital ichthyosis. Trifarotene was authorised for treatment of acne in the US and was undergoing evaluation for this use in the EU.
In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 20 February 2020, 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
- trifarotene
- Intended use
- Treatment of autosomal recessive congenital ichthyosis
- Orphan designation status
- Withdrawn
- EU designation number
- EU/3/20/2264
- Date of designation
- Sponsor
Premier Research Group S.L.
Camino De La Zarzuela 19
28023 Madrid
Spain
Tel. +34 91038 8900
E-mail: orphandrugs@premier-research.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: