Overview

On 27 June 2018, orphan designation (EU/3/18/2030) was granted by the European Commission to Biophytis, France, for 20-hydroxyecdysone for treatment of Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is a genetic disease that gradually causes weakness and atrophy (wasting) of muscles. It mainly affects boys, and usually starts before the age of six years. The muscle weakness usually starts in the hips and legs, before affecting the arms, chest and the heart. Patients with DMD lack normal dystrophin, a protein found in muscles. Because this protein helps to protect muscles from injury as muscles contract and relax, in patients with DMD the muscles become weaker and eventually stop working.

DMD causes long-term disability and is life threatening because of its effects on the heart and the respiratory muscles (muscles that are used to breathe). The disease usually leads to death in early adulthood.

At the time of designation, DMD affected less than 0.5 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 26,000 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 517,400,000 (Eurostat 2018).

At the time of designation, the medicine Translarna (ataluren) was authorised in the EU for the treatment of a small group of patients with DMD caused by a particular type of mutation (change), called a nonsense mutation, in the dystrophin gene. Patients also received supportive treatment such as physiotherapy.

The sponsor has provided sufficient information to show that 20-hydroxyecdysone might be of significant benefit for patients with DMD because laboratory data indicate that the product may have positive effects in a wider patient population than with the authorised treatment.

This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

20-hydroxyecdysone is thought to activate a receptor (target) on muscle cells called MAS. This in turn results in a reduced production of a protein called myostatin, which blocks muscle growth. By reducing myostatin, the medicine is thought to reduce muscle wasting in patients with DMD.

The effects of 20-hydroxyecdysone have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with 20-hydroxyecdysone in patients with DMD had been started.

At the time of submission, 20-hydroxyecdysone was not authorised anywhere in the EU for DMD 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 24 May 2018 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.

EU/3/18/2030: Public summary of opinion on orphan designation: 20-hydroxyecdysone for treatment of Duchenne muscular dystrophy

Reference Number: EMA/382043/2018

English (EN) (116.16 KB - PDF)

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Key facts

Active substance
20-hydroxyecdysone
Intended use
Treatment of Duchenne muscular dystrophy
Orphan designation status
Positive
EU designation number
EU/3/18/2030
Date of designation
Sponsor

Biophytis
14 Avenue de l'Opéra
75001 Paris
France
Tel. +33 1 44 27 23 87
E-mail: mounia.chabane@biophytis.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:

  • Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.

  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.

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:

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