EU/3/20/2263 - orphan designation for treatment of facioscapulohumeral muscular dystrophy
Losmapimod
OrphanHuman
Overview
Please note that this product was withdrawn from the Union Register of orphan medicinal products in December 2024 on request of the Sponsor.
On 24 March 2020, orphan designation EU/3/20/2263 was granted by the European Commission to Pharma Gateway AB, Sweden, for losmapimod 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 early 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 1.5 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 78,000 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).
*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, Iceland, Liechtenstein, Norway and the United Kingdom. This represents a population of 519,200,000 (Eurostat 2020).
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 caused by abnormal activity of a protein called DUX4 which damages and destroys muscles cells. Losmapimod is expected to work by blocking of DUX4, thereby preventing muscle cell damage.
The effects of losmapimod have been evaluated in experimental models.
At the time of submission of the application for orphan designation, clinical trials with losmapimod in patients with facioscapulohumeral muscular dystrophy were ongoing.
At the time of submission, losmapimod was not authorised anywhere in the EU for the treatment of facioscapulohumeral muscular dystrophy or designated as an orphan medicinal product elsewhere for this condition.
In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 20 February 2020, 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.
Key facts
- Active substance
- Losmapimod
- Intended use
- treatment of facioscapulohumeral muscular dystrophy
- Orphan designation status
- Withdrawn
- EU designation number
- EU/3/20/2263
- Date of designation
- Sponsor
Sanofi B.V.
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
Update history
| Date | Update |
|---|---|
| July 2024 | The sponsorship was transferred to Sanofi B.V. |
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: