EU/3/20/2287 - orphan designation for treatment of Canavan disease
Adeno-associated virus serotype 9 containing the human ASPA gene
OrphanHuman
Overview
On 4 June 2020, orphan designation EU/3/20/2287 was granted by the European Commission to Raremoon Consulting Limited, United Kingdom, for adeno-associated virus serotype 9 containing the human ASPA gene (also known as BBP-812) for the treatment of Canavan disease.
The sponsorship was transferred to Raremoon Consulting Esp S.L., Spain, in March 2021.
Canavan disease is an inherited disease that affects the normal functioning of the nerves, the brain and spinal cord.
The disease is caused by a mutation (change) in the gene responsible for producing an enzyme called ASPA, which is involved in maintaining myelin, a protective sheath around nerve cells that also speeds up the transmission of impulses (messages) along nerves. Because of these mutations, ASPA does not work properly leading to problems with the development of the brain and spinal cord and messaging between nerves throughout the body.
The disease usually starts at birth and affected infants do not develop normally and have an unusually large head size. As the disease progresses, patients develop loss of muscle strength, damage to the optic nerve and stiffening of muscles. Patients often have swallowing difficulties, sleep disturbances, inability to move voluntarily and experience seizures (fits).
Canavan disease is long-term debilitating and life threatening with a life expectancy of less than 10 years for the severe form of the disease.
At the time of designation, Canavan disease affected approximately 0.04 in 10,000 people in the European Union (EU). This was equivalent to a total of around 2,000 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 for the treatment of Canavan disease. Patients received supportive treatment to protect airways and provide nutrition and hydration. Patients also received treatment to temporarily relieve the symptoms of the disease, such as medicines to treat epilepsy and spasticity.
This medicine is made of a virus that contains a normal copy of the gene for ASPA. When given to the patient, the virus is expected to carry the gene into the nerve cells in the brain, enabling them to produce a working ASPA, thus reducing the damage to myelin and maintaining their normal functioning.
The virus used in this medicine ('adeno-associated virus') does not cause disease in humans.
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 Canavan disease had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for the treatment of Canavan disease 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 23 April 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
- Adeno-associated virus serotype 9 containing the human ASPA gene
- Intended use
- Treatment of Canavan disease
- Orphan designation status
- Positive
- EU designation number
- EU/3/20/2287
- Date of designation
- Sponsor
Raremoon Consulting Esp S.L.
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if 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: