EU/3/16/1775 - orphan designation for treatment of facioscapulohumeral muscular dystrophy

alpha-tocopherol

Overview

On 18 November 2016, orphan designation (EU/3/16/1775) was granted by the European Commission to Université de Montpellier, France, for alpha-tocopherol for the treatment of facioscapulohumeral muscular dystrophy.

What is 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 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.

What is the estimated number of patients affected by the condition?

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 is based on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).

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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).

What treatments are available?

At the time of designation, no satisfactory method 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.

How is this medicine expected to work?

Muscle weakness in patients with facioscapulohumeral muscular dystrophy is believed to be linked to a chemical reaction known as oxidation. Alpha-tocopherol, a form of vitamin E, is an antioxidant that is expected to work by stopping or neutralising these harmful reactions, and thereby help improve or delay patients' symptoms.

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

What is the stage of development of this medicine?

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.

Opinions on orphan medicinal product designations are based on the following three criteria:

• 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/3/16/1775: Public summary of positive opinion for orphan designation of alpha-tocopherol for the treatment of facioscapulohumeral muscular dystrophy

Key facts

• Active substance:
  alpha-tocopherol
• Intended use:
  treatment of facioscapulohumeral muscular dystrophy
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/16/1775
• Date of designation:
  18/11/2016
• Sponsor:

  Université de Montpellier; 163 rue Auguste Broussonnet; 34090 Montpellier; France; Tel. [phone]; E-mail: [e-mail]