On 27 September 2011, orphan designation (EU/3/11/906) was granted by the European Commission to Généthon, France, for kifunensine for the treatment of beta sarcoglycanopathy
- What is beta sarcoglycanopathy?
Sarcoglycanopathies belong to a group of inherited diseases called the limb-girdle muscular dystrophies, which cause progressive muscle wasting and weakness. Symptoms usually appear in childhood. Sarcoglycanopathies are caused by mutations in the genes for certain proteins called sarcoglycans, which are important for muscle fibres and are needed for muscles to work properly. Each type of sarcoglycanopathy is genetically different but people have similar symptoms. Beta sarcoglycanopathy is caused by a fault in the gene for beta sarcoglycan.
Beta sarcoglycanopathy is a chronically debilitating and life-threatening condition as it causes progressive muscle wasting associated with reduced life expectancy due to heart and breathing problems.
- What is the estimated number of patients affected by the condition?
At the time of designation, beta sarcoglycanopathy affected less than 0.01 in 10,000 people in the European Union (EU)*. This is equivalent to a total of fewer than 500 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 27), Norway, Iceland and Liechtenstein. This represents a population of 506,300,000 (Eurostat 2011).
- What treatments are available?
At the time of application, no satisfactory methods for the treatment of beta sarcoglycanopathy had been authorised in the European Union. Treatment of patients with the disease mainly involved physiotherapy as supportive treatment, but also tendon-lengthening surgery and fusion of the spine to minimise painful deformity.
- How is this medicine expected to work?
Kifunensine is expected to block the action of an enzyme called alpha mannosidase, which is involved in the natural process of breaking down defective sarcoglycans in the human body. By blocking the action of this enzyme, it is expected that defective sarcoglycan will not be degraded but can be repaired and used again by the muscle.
- What is the stage of development of this medicine?
At the time of submission of the application for orphan designation, the evaluation of the effects of kifunensine in experimental models was ongoing.
At the time of submission of the application for orphan designation, no clinical trials with kifunensine in patients with beta sarcoglycanopathy had been started.
At the time of submission, kifunensine was not authorised anywhere in the EU for beta sarcoglycanopathy 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 15 July 2011 recommending the granting of this designation.
- Opinions on orphan medicinal product designations are based on the following three criteria
- 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.
|Name||Language||First published||Last updated|
|EU/3/11/906: Public summary of opinion on orphan designation: Kifunensine for the treatment of beta sarcoglycanopathy||(English only)||17/10/2011|
|Disease/condition||Treatment of beta sarcoglycanopathy|
|Date of decision||27/09/2011|
|Orphan decision number||EU/3/11/906|
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
Sponsor’s contact details:
1 bis rue de l'Internationale
Telephone: + 33 1 69 47 28 28
Telefax: + 33 1 69 47 19 46
For contact details of patients’ organisations whose activities are targeted at rare diseases see:
- Orphanet, a database containing information on rare diseases which includes a directory of patients’ organisations registered in Europe.
- European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.