EU/3/12/1077 - orphan designation for treatment of Duchenne muscular dystrophy
exon 52 specific phosphorothioate oligonucleotide
OrphanHuman
Overview
On 6 December 2012, orphan designation (EU/3/12/1077) was granted by the European Commission to Prosensa Therapeutics B.V., the Netherlands, for exon-52-specific phosphorothioate oligonucleotide for the treatment of Duchenne muscular dystrophy.
The sponsorship was transferred to BioMarin International Limited, Ireland, in June 2015.
Duchenne muscular dystrophy (DMD) is a genetic disease that gradually causes weakness and atrophy (wasting) of the muscles. It mainly affects boys, and usually starts before the age of six years. The muscle weakness usually starts in the hips and legs, before reaching the chest, arms, and sometimes the heart. Patients with DMD lack normal dystrophin, a protein found in muscles. Because this protein helps to strengthen and protect muscles from injury as they contract and relax, in patients with DMD the muscles become weak 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 0.52 in 10,000 people in the European Union (EU)*. This is 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 27), Norway, Iceland and Liechtenstein. This represents a population of 506,300,000 (Eurostat 2011).
At the time of submission of the application for orphan designation, no satisfactory method had been authorised in the European Union to treat DMD. Treatment of patients with DMD primarily involves physiotherapy and other supportive treatments.
DMD is caused by defects in the gene responsible for the production of dystrophin. Often important parts of this gene called 'exons' are missing or damaged, which results in a very short dystrophin protein that cannot work properly.
This medicine is an 'antisense oligonucleotide' medicine. It is expected to attach to a normal exon of the dystrophin gene, called exon 52, and to produce adequate levels of an 'intermediate-length' dystrophin protein, which works better than the very short dystrophin found in DMD. It is expected to do so by a mechanism called 'exon skipping', which allows skipping the areas of the gene that block the production of a dystrophin protein which is long enough to function.
The effects of exon-52-specific phosphorothioate oligonucleotide have been evaluated in experimental models.
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 7 November 2012 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
- exon 52 specific phosphorothioate oligonucleotide
- Intended use
- Treatment of Duchenne muscular dystrophy
- Orphan designation status
- Positive
- EU designation number
- EU/3/12/1077
- Date of designation
- Sponsor
BioMarin International 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: