Description of the disease
Symptoms
Signs of the disease often appear between 30 and 50 with the onset of motor and behavioural impairments as well as progressive psychiatric disorders, leading to a dependence impacting the family.
Causes
It is a genetic disease caused by mutation in the gene encoding for a protein called huntingtin. It is inherited as an autosomal dominant: inherit a single mutated copy of huntingtin gene is sufficient to develop the disease. Any individual with the mutation will necessarily develop the disease
Prevalence
Prevalence of Huntington’s disease is about 5 cases per 100 000 individuals. Men and women are affected in the same way.
In France, 18 000 persons are concerned : about 6 000 already have symptoms and approximately 12 000 are carrying the mutated gene, but are still asymptomatic.
Institut du Cerveau – ICM Responses
TOPICS AND RESEARCH TEAMS
• Treat Huntington’s disease by improving brain metabolism with Alexis Brice’s team.
Clinical research
Resveratrol to fight Huntington’s disease
Huntington’s disease is a hereditary neurodegenerative disorder manifested by the onset of motor, behavioural and psychiatric progressive disorders. A national multicentric phase II trial, REV-HD, coordinated by Fanny Mochel, was initiated in 2015 in order to assess resveratrol’s abilities to slow the progression of Huntington’s disease by improving the energetic functioning of the brain. A hundred patients will be treated for one year with clinical and imaging parameters as evaluation criteria.
RESEARCH DEVELOPMENT
Oil medicine to treat Huntington’s disease
The therapeutic potential of a synthetic oil, triheptanoin, has been demonstrated by Fanny Mochel and Alexandra Durr in Alexis Brice’s team in patients with Huntington’s disease. By improving the energetic functioning of the brain, this drug may slow the progression of the disease.
On the basis of these results, a European therapeutic trial, TRIHEP3, coordinated by Fanny Mochel and conducted in partnership with Ultragenyx, was initiated in France and the Netherlands for a period of one year in a hundred patients with clinical and imaging parameters as assessment criteria.
A treatment for apathy
A phase II therapeutic trial conducted in collaboration with Pfizer, with Alexandra Durr as lead investigator, the APACHE project (Apathy and Chorea in Huntington Disease Early Stage), took place within the CIC. Its objective was to evaluate the tolerance of a treatment for Huntington’s disease, PDE10A, and its effectiveness on apathy in 32 patients. For the first time, this evaluation has been carried out by combining functional MRI, innovative tests aiming to assess apathy and developed by Mathias Pessiglione’s team with Raphael LeBouc and a new battery of neuropsychology tests by Richard Levy. The results are currently under analysis and seem promising, regarding the effect of this inhibitor on apathy.