EU/3/17/1831 - orphan designation for treatment of limb-girdle muscular dystrophy

505 amino acid protein, corresponding to amino acids 2-506 of the wild type human histidyl-tRNA synthetase
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Overview

On 27 February 2017, orphan designation (EU/3/17/1831) was granted by the European Commission to Voisin Consulting S.A.R.L., France, for 505 amino acid protein, corresponding to amino acids 2-506 of the wild-type human histidyl-tRNA synthetase (also known as ATYR1940) for the treatment of limb-girdle muscular dystrophy.

Please note that this product was withdrawn from the Union Register of orphan medicinal products in January 2020 on request of the Sponsor.

Limb-girdle muscular dystrophy describes a group of genetic diseases that cause progressive weakness and wasting of muscles mainly of the hip and shoulders. The diseases are caused by mutations (changes) in the genes for certain proteins that are important for maintaining muscle fibres and are needed for muscles to work properly. Signs and symptoms vary in severity depending on the type of limb-girdle muscular dystrophy. In some cases the disease may affect the heart and breathing muscles.

Limb-girdle muscular dystrophy is a long-term debilitating and life-threatening condition because it causes progressive muscle wasting and may lead to heart and breathing problems.

At the time of designation, limb-girdle muscular dystrophy affected approximately 0.7 in 10,000 people in the European Union (EU). This was equivalent to a total of around 36,000 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).

*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 designation, no satisfactory method were authorised in the EU to treat limb-girdle muscular dystrophy. Treatment of patients was mainly supportive and included physiotherapy and medicines to manage muscle pain and inflammation.

The medicine is a version of a natural protein, human histidyl-tRNA synthetase (HARS). HARS is thought to be involved in promoting muscle growth and development and acting on the immune system (the body's natural defences) to decrease inflammation that can affect the muscles. It is expected that through these actions this medicine, when given by injection to patients with the disease, may reduce the symptoms of limb-girdle muscular dystrophy.

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 limb-girdle muscular dystrophy were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for limb-girdle muscular dystrophy or designated as an orphan medicinal product elsewhere for this condition.

Orphan designation of the medicine had been granted in the EU and in the United States for facioscapulohumeral muscular dystrophy.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 19 January 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.

EU/3/17/1831: Public summary of opinion on orphan designation: 505 amino acid protein, corresponding to amino acids 2-506 of the wild-type human histidyl-tRNA synthetase for the treatment of limb-girdle muscular dystroph...

Adopted Reference Number: EMA/85417/2017

English (EN) (206.13 KB - PDF)

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Key facts

Active substance
505 amino acid protein, corresponding to amino acids 2-506 of the wild type human histidyl-tRNA synthetase
Intended use
Treatment of limb-girdle muscular dystrophy
Orphan designation status
Withdrawn
EU designation number
EU/3/17/1831
Date of designation
Sponsor

Voisin Consulting S.A.R.L.

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product it 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:

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