EU/3/18/2060 - orphan designation for treatment of spinal muscular atrophy
adeno-associated viral vector serotype 2 containing the human REP1 gene (timrepigene emparvovec)
Orphan
Human
Overview
On 24 August 2018, orphan designation (EU/3/18/2060) was granted by the European Commission to Biogen Idec Limited, United Kingdom, for adeno-associated viral vector serotype hu68 containing the human SMN1 gene for the treatment of spinal muscular atrophy.
The sponsorship was transferred to Biogen Netherlands B.V. The Netherlands, in May 2019.
The sponsorship was transferred to Nightstar Europa Limited, Ireland, in February 2019 and subsequently to Biogen Netherlands B.V., Netherlands, in September 2020.
This medicine is now known as timrepigene emparvovec.
Please note that this product was withdrawn from the Union Register of orphan medicinal products in December 2020 on request of the Sponsor.
Spinal muscular atrophy is an inherited disease usually diagnosed in the first year of life that affects the motor neurons (nerves from the brain and spinal cord that control muscle movements). Patients with the disease lack a protein called ‘survival motor neuron’ (SMN), which is essential for the normal functioning and survival of motor neurons. Without this protein, the motor neurons deteriorate and eventually die. This causes the muscles to fall into disuse, leading to muscle wasting (atrophy) and weakness.
Spinal muscular atrophy is a long-term debilitating and life-threatening disease because it causes breathing problems and muscle wasting that worsens over time.
At the time of designation, spinal muscular atrophy affected less than 0.4 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 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).
*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 517,400,000 (Eurostat 2018).
At the time of designation, one medicine, Spinraza, was authorised for the treatment of spinal muscular atrophy. Patients also received supportive treatment to help them and their families cope with the symptoms of the disease. This included chest physiotherapy and physical aids to support muscle function, and ventilators to help with breathing.
The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with spinal muscular atrophy. Early laboratory data indicated that the medicine may improve survival to a greater extent than the authorised treatment.
This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
The SMN protein is produced by two genes, called SMN1 and SMN2. Most patients with spinal muscular atrophy lack the SMN1 gene but have the SMN2 gene, which mostly produces a short SMN protein that does not work as well as a full-length protein.
This medicine is made of a virus that has been modified to contain the SMN1 gene. When injected into the fluid in the brain and spinal cord, the virus is expected to carry the gene into the nerve cells, enabling them to start producing a full-length SMN protein. This is expected to improve the survival and function of the motor neurons, and so preserve muscle function.
The type of 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 spinal muscular atrophy had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for spinal muscular atrophy 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 19 July 2018 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 viral vector serotype 2 containing the human REP1 gene (timrepigene emparvovec)
- Intended use
- Treatment of spinal muscular atrophy
- Orphan designation status
- Withdrawn
- EU designation number
- EU/3/18/2060
- Date of designation
- Sponsor
Biogen Netherlands 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.
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: