EU/3/20/2365 - orphan designation for treatment of limb-girdle muscular dystrophy
adeno-associated virus serotype rh74 containing the human sarcoglycan beta gene
OrphanHuman
Overview
On 9 December 2020, orphan designation EU/3/20/2365 was granted by the European Commission to Sarepta Therapeutics Ireland Limited, Ireland, for adeno-associated virus serotype rh74 containing the human sarcoglycan beta gene (also known as SRP-9003) for the treatment of limb-girdle muscular dystrophy.
Limb-girdle muscular dystrophy describes a group of genetic diseases that cause progressive weakness and wasting of muscles mainly of the hip and shoulders. The diseases are caused by mutations (changes) in the genes for certain proteins that are important for maintaining muscle fibres and are needed for muscles to work properly. Signs and symptoms vary in severity depending on the type of limb-girdle muscular dystrophy. In some cases, the disease may affect the heart and breathing muscles.
Limb-girdle muscular dystrophy is a long-term debilitating and life-threatening condition because it causes progressive muscle wasting and may lead to heart and breathing problems.
At the time of designation, limb-girdle muscular dystrophy affected approximately 0.2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 10,000 people1, 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).
1For 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 to treat limb-girdle muscular dystrophy. Treatment of patients was mainly supportive and included physiotherapy and medicines to manage muscle pain and inflammation.
Patients with type 2E limb-girdle muscular dystrophy have a mutation (change) in the gene for a protein called beta-sarcoglycan. This results in lack of the protein, which is needed for muscles to function normally. The medicine is made of a virus that has been modified to contain normal copies of the gene for producing the beta-sarcoglycan protein. After injection, the virus is expected to deliver the gene into the muscle cells, allowing them to produce the protein. This is expected to help relieve symptoms of the disease.
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, clinical trials with this medicine in patients with limb-girdle muscular dystrophy type 2E were ongoing.
At the time of submission, the medicine was not authorised anywhere in the EU for the treatment of limb-girdle muscular dystrophy. Orphan designation had been granted in the United States for treatment of limb girdle muscular dystrophy type 2E.
In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 5 November 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 rh74 containing the human sarcoglycan beta gene
- Intended use
- Treatment of limb-girdle muscular dystrophy
- Orphan designation status
- Positive
- EU designation number
- EU/3/20/2365
- Date of designation
- Sponsor
Sarepta Therapeutics Ireland Limited
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: