EU/3/19/2218 - orphan designation for treatment of GM2 gangliosidosis
OrphanHuman
Overview
On 13 November 2019, orphan designation EU/3/19/2218 was granted by the European Commission to Idorsia Pharmaceuticals Deutschland GmbH, Germany, for (2S,3R,4R,5S)-2-(hydroxymethyl)-1-pentylpiperidine-3,4,5-triol (also known as ACT-519276) 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 lack an enzyme called beta-hexosaminidase, which normally breaks down substances called GM2 gangliosides. Without this enzyme, GM2 gangliosides build up in the body, particularly in the brain and spinal cord. The condition causes muscle weakness, 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 during 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 isbased 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 518,400,000 (Eurostat 2019).
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 symptoms such as seizures.
The medicine, which can be given by mouth, blocks the effects of two enzymes that are important for the formation of GM2 gangliosides. The medicine is expected to enter the brain and reduce the production and build-up of GM2 gangliosides and thereby slow down the progression of GM2 gangliosidosis and help patients live longer.
The effects of the medicine 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, the medicine 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 10 October 2019, 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
- Intended use
- Treatment of GM2 gangliosidosis
- Orphan designation status
- Positive
- EU designation number
- EU/3/19/2218
- Date of designation
- Sponsor
Idorsia Pharmaceuticals Deutschland GmbH
Marie-Curie-Strasse 8
79539 Loerrach
Germany
Tel. +49 7621 5790384
E-mail: clinical-trials-disclosure@idorsia.com
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: