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 erodes some nerve cells in the brain, causes severe locomotor, cognitive and emotional problems, and reduces 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 diminish the presence in the brain of the toxic protein that triggers this disease that in Spain suffer more than 4,000 people.
46 reasons for hope
The drug has been tested in 46 individuals from Germany, Canada and the United Kingdom who have Huntington’s disease in its early stages. Each patient was injected in the cerebrospinal fluid several doses of IONIS-HTTRx to reach the brain, where the drug significantly reduced the levels of huntingtin, the protein that, when mutated, causes this rare ailment. The compound acts on the gene that expresses huntingtin, which inhibits the production of this, necessary for many functions, but that when transformed in a malignant way, it damages the 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 reduces the levels of the toxic protein that causes the ailment, and the medicine has been safe and tolerable for the patients. Now we have to do clinical tests with more people to confirm with certainty that the compound works.”
If the largest clinical trials confirm the efficacy of IONIS-HTTRx, we will face a great medical breakthrough, since, until now, the known treatments fought the symptoms of this disease, but did not slow it down. 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 suffering from this neurodegenerative disease are born with the genetic disorder that triggers it, but symptoms usually do not appear until after 30 to 40 years. The first signs include problems of balance, clumsiness and uncontrolled movements. The advance of evil can prevent the affected person from walking, talking or swallowing. Some patients stop recognizing their relatives, similar to those who suffer from dementia.
Those affected usually do not survive more than 20 years after the diagnosis of this hereditary, incurable and incapacitating neurodegenerative pathology that has symptoms that resemble Alzheimer’s, Parkinson’s and amyotrophic lateral sclerosis (ALS).