On 12 February 2015, orphan designation (EU/3/15/1448) 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 for the treatment of facioscapulohumeral 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Please note that this product was withdrawn from the Union Register of orphan medicinal products in January 2020 on request of the Sponsor.
Facioscapulohumeral muscular dystrophy is an inherited condition that causes weakness and atrophy (wasting) of the muscles, usually starting with the muscles of the face, shoulders and arms and gradually working down 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 progressive muscle weakness and the resulting impaired mobility. Vision and hearing may also be impaired and the infantile onset form is considered life threatening.
At the time of designation, facioscapulohumeral muscular dystrophy affected not more than 1 in 10,000 people in the European Union (EU). This was equivalent to a total of not more than 51,000 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 512,900,000 (Eurostat 2015).
At the time of designation, no satisfactory method were authorised in the EU to treat facioscapulohumeral muscular dystrophy. Treatment of patients was mainly supportive and included physical therapies such as physiotherapy and medicines to manage muscle pain and inflammation.
The medicine is a version of a natural protein, human histidyl-tRNA synthetase (HARS), which is known for its important role in the production of proteins. This protein is also thought to be involved in muscle growth and development as well as acting on the immune system (the body's natural defences) to decrease inflammation. It is expected that through these actions this medicine, when given by injection to patients with the disease, may reduce the symptoms of facioscapulohumeral 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 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 9 January 2015 recommending the granting of this designation.
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.
Voisin Consulting S.A.R.L.
64 Avenue Pierre Grenier
92100 Boulogne-Billancourt
France
Tel. +33 1413 18300
E-mail: orphan@voisinconsulting.com
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
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.
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: