On 4 July 2012, orphan designation (EU/3/12/1009) was granted by the European Commission to Italfarmaco S.p.A., Italy, for givinostat for the treatment of Duchenne muscular dystrophy.
- What is Duchenne muscular dystrophy?
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 muscles 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.
- What is the estimated number of patients affected by the condition?
At the time of designation, DMD affected approximately 0.5 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 25,000 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).
- What treatments are available?
At the time of submission of the application for orphan designation, no satisfactory method had been authorised in the European Union for treatment of the condition. Treatment of patients with Duchenne muscular dystrophy primarily involved physiotherapy and other supportive treatments.
- How is this medicine expected to work?
Givinostat is an ‘HDAC inhibitor’ medicine. This means that it blocks enzymes called histone deacetylases (HDACs), which are involved in turning genes ‘on’ and ‘off’ within cells. By blocking HDAC enzymes, givinostat is expected to ‘switch on’ the follistatin gene, thereby increasing the amount of the follistatin protein in muscle cells. Follistatin is expected to increase muscle mass and prevent muscle degeneration by opposing the effects of myostatin, a protein that causes fat and fibrotic tissue to build up in the muscle preventing muscle growth and regeneration. This is expected to improve the symptoms of DMD.
- What is the stage of development of this medicine?
The effects of givinostat have been evaluated in experimental models.
At the time of submission of the application for orphan designation, clinical trials with givinostat in patients with DMD were ongoing.
At the time of submission, givinostat 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 11 May 2012 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/3/12/1009: Public summary of opinion on orphan designation: Givinostat for the treatment of Duchenne muscular dystrophy||(English only)||2012-07-24|
|Disease/condition||Treatment of Duchenne muscular dystrophy|
|Date of decision||04/07/2012|
|Orphan decision number||EU/3/12/1009|
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
Via dei Lavoratori, 54
20092 Cinisello Balsamo (MI)
Tel. +39 0264 4325 84
Fax +39 0264 4335 54
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.