Breakthrough gene therapy slows Huntington's disease progression, study finds
Gene therapy slowed disease progression in a three-year trial, offering new hope for Huntington's disease patients
Huntington's disease is inherited in most cases, and because symptoms typically begin decades after a person is born, many patients have already had children before warning signs appear. In the vast majority of cases, the condition is inherited, though on rare occasions it can arise spontaneously from a new mutation in the huntingtin gene. The condition progresses through three stages, with early symptoms including minor involuntary movements and subtle coordination problems, middle-stage problems such as more frequent involuntary movements and difficulty walking or swallowing, and late-stage severe rigidity or immobility. Life expectancy after symptom onset averages 10 to 20 years, and the disease places a heavy burden on patients and families.
Doctors say there are no treatments to alter the course of the disease, but there are medications to alleviate some symptoms. Drugs may reduce involuntary movements, and antidepressants and mood stabilizers can help manage depression. Multidisciplinary care at major centers often includes psychotherapy, speech therapy, and physical therapy to maintain movement and communication for as long as possible. In some cases, couples pursue IVF with genetic screening to ensure only unaffected embryos are implanted, potentially reducing the risk of passing the defective gene to children.
What is the new breakthrough medication? The medicine, developed by uniQure, uses a harmless virus packaged with a Huntington's disease-fighting protein that is infused into the brain in a 12- to 18-hour neurosurgery. The virus delivers new DNA to the brain cells, causing them to produce a messenger RNA that helps clear the mutant huntingtin protein from neurons. The treatment has been tested on 29 patients over three years; 75 percent showed a slowing of disease progression. The company says it hopes to make the therapy available to more patients by late 2026. It is likely to cost tens of thousands of dollars per treatment. Dr. Ed Wild, a consultant neurologist at University College London Hospitals who helped lead the research, said: 'There was every chance that we would never see a result like this. So, to be living in a world where we know this is not only possible, but the actual magnitude of the effect is breathtaking.'