EU/3/01/062 - orphan designation for treatment of Friedreich's ataxia
idebenone
OrphanHuman
Overview
On 20 November 2001, orphan designation (EU/3/01/062) was granted by the European Commission to Laboratoires Takeda, France, for idebenone for the treatment of Friedreich’s ataxia.
Friedreich’s ataxia is an inherited (genetic) disease of the nervous system and muscles. Genes located on structures called chromosomes carry the genetic information that determines the characteristics of each individual. In humans, each cell has 23 pairs of chromosomes. For each pair one chromosome is inherited from the mother and the other from the father. In Friedreich’s ataxia there is an abnormality in a gene carried by the pair number 9 and responsible for the production of a protein called “frataxin”.
For a patient to be affected of Friedreich’s ataxia both chromosomes on the pair number 9 should be affected. Frataxin plays a major role in iron metabolism and its absence would produce the accumulation of iron and other substances that finally would injure the cells, in particula those of the nervous system.
Friedreich’s ataxia is characterised by difficulties to coordinate movements. The symptoms develop progressively and are mainly due to the neurological alterations. They mainly concern the ability to walk, gait disturbances, speech problems, cardiac function (cardiomyopathy) and are sometimes associated to diabetes.
Friedreich’s ataxia is chronically debilitating and life threatening due to the progression of symptoms, severe neurological and cardiac complications and short life expectancy.
No satisfactory methods exist that were authorised at the time of application.
According to the information provided by the sponsor, Friedreich’s ataxia was considered to affect less than 27,000 persons in the European Union.
*Opinions on orphan medicinal products designations are based on the following cumulative criteria: (i) the seriousness of the condition, (ii) the existence or not of alternative methods of diagnosis, prevention or treatment and (iii) either the rarity of the condition (considered to affect not more than five in ten thousand persons in the Community) or the insufficient return of development investments.
Designated orphan medicinal products are still investigational products which were considered for designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of the quality, safety and efficacy will be necessary before this product can be granted a marketing authorisation.
Mitochondria are structures located inside the cells, which produce the energy necessary for the cell functioning, through a process named “cellular respiration”. This process is realised by a complex of different molecules that need oxygen to produce energy. During this process, toxic oxygen free radicals can be produced and they should be neutralised by other substances in order not to be harmful for the cell. One of the hypotheses for Friedreich’s ataxia is that due to the frataxin protein deficit, the iron overload in the mitochondria, could lead to the formation of an excess of toxic oxygen free radicals. Idebenone is expected to act as a reactive oxygen scavenger. That means that it can naturally accept and link oxygen molecules and therefore have an antioxidant effect. By binding these reactive oxygen molecules idebenone can thereby prevent cellular damage.
The effects of idebenone have been evaluated in experimental models.
At the time of submission of the application for orphan designation, clinical trials in patients with Friedreich’s ataxia were ongoing.
Idebenone was not marketed anywhere worldwide for Friedreich’s ataxia or designated as orphan medicinal product elsewhere for this condition, at the time of submission.
According to Regulation (EC) No 141/2000 of 16 December 1999, the Committee for Orphan Medicinal Products (COMP) adopted on 7 September 2001 a positive opinion recommending the grant of the above-mentioned designation.
Key facts
- Active substance
- idebenone
- Intended use
- Treatment of Friedreich's ataxia
- Orphan designation status
- Positive
- EU designation number
- EU/3/01/062
- Date of designation
- Sponsor
Laboratoires Takeda
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: