EU/3/20/2325 - orphan designation for treatment of GM2 gangliosidosis
venglustat
OrphanHuman
Overview
On 21 August 2020, orphan designation EU/3/20/2325 was granted by the European Commission to Genzyme Europe B.V., Netherlands, for venglustat for the treatment of GM2 gangliosidosis.
GM2 gangliosidosis is an inherited disorder that causes progressive damage to the nerve cells in the brain and spinal cord.
Patients with this condition have mutations (defects) in at least one of 3 genes (HEXA, HEXB, and GM2A) that are responsible for the production of proteins that break down substances called GM2 gangliosides. Because of these defects, GM2 gangliosides build up in the body, particularly in the brain and spinal cord. Signs and symptoms include muscle weakness and problems with walking, intellectual disability, difficulty speaking, seizures (fits), and loss of sight and hearing.
GM2 gangliosidosis is a debilitating and life-threatening disease. The most severe form of the disease starts in early infancy and can lead to death in childhood.
At the time of designation, GM2 gangliosidosis affected approximately 0.4 in 10,000 people in the European Union (EU). This was equivalent to a total of around 21,000 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).
*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 GM2 gangliosidosis. Treatment of patients was mainly supportive and included physical therapy and medicines to manage seizures.
Venglustat is expected to block one of the steps in the formation of GM2 ganglioside, reducing the production and build up of this substance in the body. This is expected to improve the symptoms of GM2 gangliosidosis and help patients live longer.
The effects of venglustat have been evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with GM2 gangliosidosis had been started.
At the time of submission, venglustat was not authorised anywhere in the EU for the treatment of GM2 gangliosidosis 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 16 July 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
- venglustat
- Intended use
- Treatment of GM2 gangliosidosis
- Orphan designation status
- Positive
- EU designation number
- EU/3/20/2325
- 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 2023 | The sponsor’s name was changed from Genzyme Europe B.V. to Sanofi B.V. in July 2023. |
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: