EU/3/15/1539 - orphan designation for treatment of X-linked myotubular myopathy
Adeno-associated viral vector serotype 8 containing the human MTM1 gene (resamirigene bilparvovec)
OrphanHuman
Overview
This medicine is now known as resamirigene bilparvovec.
On 10 August 2015, orphan designation (EU/3/15/1539) was granted by the European Commission to Audentes Therapeutics UK Limited, United Kingdom, for adeno-associated viral vector serotype 8 containing the human MTM1 gene for the treatment of X-linked myotubular myopathy.
The sponsorship was transferred to Audentes Therapeutics Netherlands B.V., The Netherlands, in April 2019.
The sponsorship was transferred to Astellas Pharma Europe B.V. in September 2020.
X-linked myotubular myopathy is an inherited condition in which there are abnormalities in the structure and function of muscle cells due to mutations (changes) in the gene responsible for producing the protein myotubularin. This gene, MTM1, is located on the X chromosome and the condition affects boys almost exclusively, since girls have a second X chromosome and a second copy of the gene. Patients are generally born with severe muscle weakness, including weakness of the muscles needed to breathe, and they are unable to breathe normally without mechanical assistance.
The condition is severely debilitating and life threatening due to the muscle weakness and impaired breathing, and most patients die within two years of birth.
At the time of designation, X-linked myotubular myopathy affected approximately 0.02 in 10,000 people in the European Union (EU). This was equivalent to a total of around 1,000 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 512,900,000 (Eurostat 2015).
No satisfactory methods of treatment were authorised in the EU at the time of application. Patients received supportive treatment, including mechanical assistance with breathing.
The medicine is made of a virus that contains normal copies of the MTM1 gene which is responsible for producing the myotubularin protein. When injected into the patient it is expected that the virus will carry the gene into muscle cells, enabling the cells to produce the missing protein. This is expected to allow the muscles to develop and function normally, relieving the symptoms of the condition.
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 this medicine in patients with X-linked myotubular myopathy had been started.
At the time of submission, this medicine was not authorised anywhere in the EU for X-linked myotubular myopathy. Orphan designation of the medicine had been granted in the United States for this condition.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 16 July 2015 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 8 containing the human MTM1 gene (resamirigene bilparvovec)
- Intended use
- Treatment of X-linked myotubular myopathy
- Orphan designation status
- Positive
- EU designation number
- EU/3/15/1539
- Date of designation
- Sponsor
Astellas Pharma Europe B.V
Sylviusweg 62
2333 BE Leiden
Zuid-Holland
Netherlands
Tel. +31 (0)61 502 1591
E-mail: contact@nl.astellas.com
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: