EU/3/16/1716 - orphan designation for treatment of Duchenne muscular dystrophy
adeno-associated viral vector serotype 9 containing the human mini-dystrophin gene
OrphanHuman
Overview
On 29 August 2016, orphan designation (EU/3/16/1716) was granted by the European Commission to Advanced Biotherapeutics Consulting SARL, France, for adeno-associated viral vector serotype 9 containing the human mini-dystrophin gene for the treatment of Duchenne muscular dystrophy.
The sponsorship was transferred to Pfizer Limited, United Kingdom in May 2017 and subsequently to Pfizer Europe MA EEIG, Belgium, in November 2018.
Duchenne muscular dystrophy (DMD) is a serious genetic disease that gradually causes weakness and atrophy (wasting) of the muscles. It mainly affects boys, and is usually diagnosed before the age of six years. The muscle weakness usually starts in the hips and legs, before affecting the arms, chest and the heart. Patients with DMD lack normal dystrophin, a protein found in muscles. Because this protein helps to protect muscles from injury as muscles contract and relax, in patients with DMD the muscles become weaker and eventually stop working.
DMD causes long-term disability and is life threatening because of its effects on the heart and the respiratory muscles (muscles that are used to breathe). The disease usually leads to death in adolescence or early adulthood.
At the time of designation, DMD affected approximately 0.5 in 10,000 people in the European Union (EU). This was equivalent to a total of around 26,000 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 513,700,000 (Eurostat 2016).
At the time of designation, Translarna (ataluren) was authorised in the EU to treat patients with DMD who have a specific type of mutation (change) called a nonsense mutation in their dystrophin gene. Patients also received supportive treatment such as physiotherapy.
The sponsor has provided sufficient information to show that this medicine might be of significant benefit for patients with DMD because laboratory studies indicate that it can restore muscle strength, it works in a different way to Translarna and it would not be limited to patients with a specific mutation. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
Duchenne muscular dystrophy is caused by mutations (changes) in the gene for the protein dystrophin, which lead to the production of a non-functional dystrophin. The medicine consists of a virus that contains a shortened, but functional version of the dystrophin gene. When given to the patient, it is expected that the virus will carry the short dystrophin gene into muscle cells, enabling them to produce a short, but functional version of the dystrophin protein. This is expected to help the muscle cells work better, improving symptoms of the condition.
The virus used in this medicine (adeno-associated viral vector) does not cause disease in humans.
At the time of submission of the application for orphan designation, the evaluation of the effects of the medicine in experimental models was ongoing.
At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with DMD had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for DMD 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 13 July 2016 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 9 containing the human mini-dystrophin gene
- Intended use
- Treatment of Duchenne muscular dystrophy
- Orphan designation status
- Positive
- EU designation number
- EU/3/16/1716
- Date of designation
- Sponsor
Pfizer Europe MA EEIG
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: