EU/3/08/573 - orphan designation for treatment of alpha-sarcoglycanopathy
adeno-associated viral vector containing the human alpha-sarcoglycan gene
OrphanHuman
Overview
Please note that this product was withdrawn from the Community register of designated orphan medicinal products in May 2014 on request of the sponsor.
On 7 November 2008, orphan designation (EU/3/08/573) was granted by the European Commission to Généthon, France, for adeno-associated viral vector containing the human alpha sarcoglycan gene for the treatment of alpha sarcoglycanopathy.
For a list of the administrative updates to this public summary of opinion please refer to the PDF document below.
Alpha sarcoglycanopathy is an inherited disease, which causes progressive muscle weakness. It usually appears in childhood. Patients with alpha sarcoglycanopathy cannot produce a protein called alpha sarcoglycan in their muscles. This protein is needed for the muscles to work properly. The disease is due to an abnormal gene that is found on chromosome 17. For a patient to develop this disease, he or she needs to have inherited one copy of the abnormal gene from each parent. This is called 'autosomal recessive' transmission.
Alpha sarcoglycanopathy is a chronically debilitating and life-threatening disease.
At the time of designation, alpha sarcoglycanopathy affected approximately 0.3 in 10,000 people in the European Union (EU). This was equivalent to a total of around 15,000 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 27), Norway, Iceland and Liechtenstein. At the time of designation, this represented a population of 502,800,000 (Eurostat 2008).
At the time of submission of the application for orphan designation, no satisfactory methods for the treatment of alpha sarcoglycanopathy had been authorised in the European Union. Treatment of patients with the disease mainly involves physiotherapy as supportive treatment, but also tendon-lengthening surgery and fusion of the spine to minimise painful deformity.
This medicinal product is made up of a virus that contains a copy of the human alpha sarcoglycan gene. The virus is used to carry the gene into the muscles of the patient. The gene allows the muscles to produce the alpha sarcoglycan protein, which replaces the missing protein, relieving the symptoms of the disease and halting the progressive muscles weakness. The type of virus used in this medicine ('adeno-associated virus') is modified so that it does not cause disease in humans.
The evaluation of the effects of adeno-associated viral vector containing the human alpha sarcoglycan gene in experimental models is ongoing.
At the time of submission of the application for orphan designation, no clinical trials in patients with alpha sarcoglycanopathy had been initiated.
Adeno-associated viral vector containing the human alpha sarcoglycan gene was not marketed anywhere worldwide for alpha sarcoglycanopathy or designated as orphan medicinal product elsewhere for this condition, at the time of submission.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 10 September 2008 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 Community) 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 containing the human alpha-sarcoglycan gene
- Intended use
- Treatment of alpha-sarcoglycanopathy
- Orphan designation status
- Withdrawn
- EU designation number
- EU/3/08/573
- Date of designation
- Sponsor
Généthon
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: