There is increased hope for sufferers of Huntington disease, the hereditary neurodegenerative disease caused by the mutation of the gene that produces huntingtin, a protein that is very important for the brain. Following the recent announcement of the first positive data, the New England Journal of Medicine has now published the results obtained in 46 patients treated with various dosages of a new drug called HTTRx (only 34 sufferers actually received the new drug, whereas the other 12 received a placebo).
HTTRx is an anti-sense molecule, because it is made up of a small genetic code sequence, created in the lab, which prevents cells from reading the “instructions” (the altered traits of DNA) responsible for the disease. And so, the neurologists from the Huntington’s Disease Centre at the University College of London (coordinators of the research, who also involved several British, Canadian and German universities) noted that thanks to HTTRx, the level of huntingtin in cerebrospinal fluid (the thin layer of fluid surrounding the brain and spinal cord) was reduced in proportion to the dose administered, without any noteworthy side effects.
The drug, developed by Ionis Pharmaceuticals (USA) and licensed to Roche, was injected by the researchers directly into the cerebrospinal fluid, with a type of administration called intrathecal administration. Although at the moment no reduction in the symptoms has been observed, the effectiveness of HTTRx in combatting the concentration of huntingtin appears to be clear and offers hope that the new molecule is capable of slowing down or stopping the progression of the disease, especially if, in the future, it can be used in the earlier phases, i.e. when the brain has not yet suffered any damage. Huntington’s disease makes the coordination of movements progressively more difficult and, at the same time causes a drop in mental capacity and also triggers behavioral disorders. Traditional therapies are currently ineffective.
Now, all eyes are on the next stage in the experiment, which should see the enrolment of more than 660 patients worldwide by 2022 (recruitment has already begun). The hope, of course, is to confirm the effectiveness of HTTRx for definite, which would thus become the first drug capable of fighting this difficult disease.