A team of researchers from the Huntington Center at University College London has developed a drug that stops the progression of Huntington’s disease, an inherited disease that wears down some nerve cells in the brain, causes serious locomotor, cognitive and emotional problems, and reduces the Life expectancy.
The drug is in the first phase of testing, but the first trials with patients have been successful, according to the scientists responsible for the work. The new compound, which its developers have called IONIS-HTTRx, is the first drug that manages to reduce the presence in the brain of the toxic protein that triggers this disease that more than 4,000 people suffer from in Spain.
46 reasons to hope
The drug has been tested in 46 individuals from Germany, Canada, and the United Kingdom with early-stage Huntington’s disease. Each patient was injected into the cerebrospinal fluid with several doses of IONIS-HTTRx to reach the brain, where the drug dramatically reduced the levels of huntingtin, the protein that, when mutated, causes this rare condition. The compound acts on the gene that expresses huntingtin, which inhibits its production, which is necessary for many functions, but which, when it is malignant, deteriorates nerve cells.
According to Sarah Tabrizi, director of the Huntington Center at University College, “The results of the trial are of vital importance to patients and their families. It is the first time that a drug has reduced the levels of the toxic protein that causes the ailment, and the drug has proven safe and tolerable for sufferers. Now we have to do clinical trials with more people to confirm for sure that the compound works. “
If the largest clinical trials confirm the effectiveness of IONIS-HTTRx, we will be facing a great medical advance, since, until now, known treatments combat the symptoms of this ailment, but did not stop it. It is true that the compound does not cure it, but it could prevent the aggravation of its most devastating symptoms.
What is Huntington’s disease?
People who suffer from this neurodegenerative ailment are born with the genetic alteration that triggers it, but symptoms do not usually appear until after 30 to 40 years. Early signs include poor balance, clumsiness, and uncontrolled movements. The advance of the disease can prevent the affected person from walking, talking or swallowing. Some patients stop recognizing their relatives, in a similar way to those with dementia.
Those affected do not usually survive more than 20 years after the diagnosis of this hereditary, incurable and disabling neurodegenerative pathology that brings together symptoms that resemble Alzheimer’s, Parkinson’s and amyotrophic lateral sclerosis (ALS).
