By Guy D’Anjou, M.D. FRCPC
Neurologist, Sainte-Justine Hospital
Friedreich’s ataxia (FA) is one of the most frequent neurodegenerative diseases. Its clinical manifestations appear at a critical stage in the development of an individual and affect his autonomy and quality of life.
A number of years ago it was discovered that FA is among others caused by a deficit of frataxin in the cells of the heart and of the nervous system.
Until very recently there was no medication available to improve the condition of FA patients. Idebenone as well as Catena, which is its new high dose formulation, seem to cause an improvement at the neurological and cardiac levels. Two ongoing studies have yet to prove their effectiveness for all patients. Hopefully other drugs will appear on the market and contribute to ease the clinical symptoms of a maximal number of patients.
Multiple ongoing studies on inhibitors of the histone deacetylase enzyme (HDACIs) are trying to demonstrate their effectiveness in several types of cancer or neurodegenerative diseases. It seems that only a specific group of HDACIs is able to significantly increase the level of frataxin in human body cells, particularly in immature white blood cells as well as in organs singled out by Friedreich’s ataxia.
At this moment one of these molecules was chosen to be a clinical candidate and should reach phase 1 before the end of the year in Europe (study of the drug: absorption, elimination, etc.) If everything goes well, phase 2 (clinical study of patients) should start somewhere in 2010.
A meeting in Europe is scheduled in July to sum up the situation on the development of this molecule. Dr Massimo Pandolfo, a world expert in Friedrich’s ataxia, tells us that the principal researchers will start planning clinical trials during that meeting.
Obviously FA patients in Quebec could eventually take part in such a clinical study because the disease is so much more prevalent in Quebec and because of the experience we have acquired during these years studying neurodegenerative diseases. In this regard Dr Pandolfo has already mentioned that he will propose our clinical environment as a possible North American partner. An exciting story worth to keep an eye on!
Source: L’Eldorado, June 2009, p.11 Translated dy Sofia Arenzon