The first test of a treatment intended to lower the amount of the protein that causes HD was administered to its first patient on September 3rd, 2015, according to the study sponsor Ionis Pharmaceuticals (formerly Isis Pharmaceuticals). The treatment, IONIS-HTT-Rx, is a short stretch of DNA that is designed to reduce the production of the huntingtin (HTT) protein by blocking the process in the cell that “reads” the gene. IONIS-HTT-Rx is delivered via lumbar puncture (an injection into the base of the spine, near the spinal cord) and will be given at four different concentrations to see which dose works best (if at all).
This study will enroll 36 people with early-stage HD at sites in Canada, the United Kingdom and Germany. The major focus is to see whether the treatment is safe and doesn’t cause side effects, but researchers are also looking for beneficial effects, such as a lowering of the mutant HTT in treated patients. If there are no major problems, the next step would be to test whether it actually slows the progression of HD.
This will be the first time that a huntingtin-lowering therapy will be tested in people, but it’s not the first time this type of treatment has been used: Ionis Pharmaceuticals already has succeeded with one gene-blocking drug, Kynamro, which effectively treats a rare inherited genetic disorder that causes extremely high cholesterol.
This story was originally published in the Autumn 2015 issue of Enroll! and edited to reflect company name change.