Myra Ralhan ’29
Photo courtesy of Drug Discovery News
A groundbreaking new gene therapy trial may change the future of patients living with Huntington’s Disease, giving hope to families that had once never seen an end to this disease and faced a devastating diagnosis. A trial was held at the University College London Huntington’s Disease Centre to test a new treatment, involving 29 patients. The goal of the treatment is to reduce the harmful huntingtin protein in the brain by inserting a catheter into two brain regions, the caudate nucleus and putamen, and delivering gene therapy. The BBC News reports that three years after the surgery, on average, there was a 75% decrease in the progression of Huntington’s disease.
Huntington’s disease is a neurodegenerative disease; it’s autosomal dominant, meaning if even only one parent has the Huntington’s disease gene, their children will also have it. Huntington’s occurs when there is a mutation in the gene called HTT. Mrs. Jenn Jones, Upper School Science Teacher, shared that when neurons don’t function properly, they can’t replicate DNA accurately. The DNA sequence for the Huntingtin protein has anywhere from zero to twenty repeats of the DNA sequence. When there is an excess of repeats of the huntingtin gene, it causes the protein produced to not function properly.
According to BBC News, a person might not be aware that they have Huntington’s disease until they are 30 or 40, because only then will symptoms arise. At that point, the person might’ve already reproduced and passed on the gene. Some symptoms of Huntington’s are memory issues, mood swings, and movement troubles. These symptoms take a toll on family life and relationships. The National Library of Medicine states that Huntington’s households have a low level of cohesion and tend to be more dysfunctional. Due to people with Huntington’s not being able to control their emotions, being very irritable, and their lack of self-awareness, they can negatively affect the family dynamic, resulting in higher stress levels.
While there haven’t been many promising or long-lasting treatments in the past, recently, this trial has shown increasingly positive results. During this process, a microRNA is used to stop the messenger RNA from delivering the wrong instructions that form Huntington’s Disease. Ed Wild, professor at the National Hospital of Neurology and Neurosurgery, expressed, “This is the result we’ve been waiting for.” As a result of these remarkable outcomes, one patient has come out of retirement and started working again, while others can walk with assistance. The even better part about this treatment is that a person only needs to have the 12-18 hour surgery once, not many times.
Next year, in early 2026, UniQure, a biotechnology company, says it will apply for a license in the U.S., so it can administer the drug in late 2026. The cost for performing the surgery and acquiring the tools is relatively high, so the drug won’t be as accessible to everyone, but they hope to make it more affordable in the long run. More trials are occurring, attempting to slow down Huntington’s even more or get rid of the disease entirely. Additionally, Ms. Cheryl Cossel, Upper School Science Teacher, mentioned how it would be helpful if, instead of having to enter through the brain, the treatment could be delivered through a shot or infusion. There is still a long process to go, but as Professor Tabrizi shared about gene therapy, “This is just the beginning.”
