What is Leber's hereditary optic neuropathy?

Leber's hereditary optic neuropathy is an inherited disease characterised by progressive loss of sight. Patients affected by Leber's hereditary optic neuropathy have mutations in the genetic material of mitochondria. Mitochondria are structures located inside cells, which produce the energy necessary for cells to function. It is thought that the mutations lead to a defective function of the mitochondria in the optic nerve cells and to degeneration of these cells that are needed for vision. Leber's hereditary optic neuropathy is chronically debilitating due to progressive loss of vision. 

We quote from the European Medicines Agency Pre-authorisation Evaluation of Medicines for Human Use Document Date: London, 10 July 2008 Doc.Ref.: EMEA/COMP/96073/2008 :

What are the methods of treatment 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. Patients with Leber's hereditary optic 

neuropathy usually receive genetic counselling and general support such as information and regular 

medical follow up.  

What is the estimated number of patients affected by the condition*? 

Based on the information provided by the sponsor and previous knowledge of the Committee, Leber's 

hereditary optic neuropathy was considered to affect less than 1 in 10,000 persons in the European 

Union, which, at the time of designation, corresponded to about 50,000 persons. 

How is this medicinal product expected to act?  

Mitochondria produce the energy necessary for the cell functioning through a process named “cellular 

respiration” which requires oxygen and produces energy. During cellular respiration, some toxic forms 

of oxygen (called oxygen free radicals) can be produced; these must be neutralised by other substances 

to avoid cellular damage. Idebenone is expected to act as a neutraliser of these toxic forms of oxygen. 

Thus, idebenone is expected to have an antioxidant effect, and consequently prevent cellular damage.  

What is the stage of development of this medicinal product?  

At the time of submission of the application for orphan designation, the effects of idebenone had been 

evaluated in experimental models, and clinical trials in patients with Leber's hereditary optic 

neuropathy were planned.  

Idebenone was not authorised anywhere in the world for treatment of Leber's hereditary optic 

neuropathy 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 10 January 2007 a positive opinion recommending the grant 

of the above-mentioned designation. 

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.