Overview

On 18 November 2016, orphan designation (EU/3/16/1782) was granted by the European Commission to Université de Montpellier, France, for L-selenomethionine for the treatment of facioscapulohumeral muscular dystrophy.

Facioscapulohumeral muscular dystrophy is an inherited condition that causes weakness and wasting of the muscles, usually starting with the muscles of the face, shoulders and arms and gradually extending to the muscles of the torso and lower limbs. Symptoms usually start in adulthood but there is also a more severe form of the disease that starts in childhood (infantile onset).

The condition is long-term debilitating due to the progressive muscle weakness and resulting difficulty moving around. There may also be problems with vision and hearing, and the infantile onset form is considered life threatening.

At the time of designation, facioscapulohumeral muscular dystrophy affected less than 1 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 51,000 people1, 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).

1Disclaimer: 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 513,700,000 (Eurostat 2016).

At the time of designation, no satisfactory methods were authorised in the EU to treat facioscapulohumeral muscular dystrophy. Patients mainly received supportive treatment including physical therapies such as physiotherapy and medicines to manage muscle pain and inflammation.

Muscle weakness in patients with facioscapulohumeral muscular dystrophy is believed to be linked to a chemical reaction known as oxidation. This medicine contains the mineral selenium, which is expected to assist certain enzymes that stop or neutralise these harmful reactions, and thereby improve or delay patients' symptoms.

L-selenomethionine is being developed for use in combination with 3 other medicines with orphan designation: alpha-tocopherol (a form of vitamin E), ascorbic acid (vitamin C) and zinc gluconate.

The effects of the medicine 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 facioscapulohumeral muscular dystrophy were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for facioscapulohumeral muscular dystrophy 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 6 October 2016 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/3/16/1782: Public summary of positive opinion for orphan designation of L-selenomethionine for the treatment of facioscapulohumeral muscular dystrophy

English (EN) (111.23 KB - PDF)

First published: Last updated:
View

Key facts

Active substance
L-selenomethionine
Intended use
treatment of facioscapulohumeral muscular dystrophy
Orphan designation status
Positive
EU designation number
EU/3/16/1782
Date of designation
Sponsor

Université de Montpellier
163 rue Auguste Broussonnet
34090 Montpellier
France
Tel. +33 467 144 152
E-mail: gaetan.lan-sun-luk@umontpellier.fr

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:

How useful do you find this page?