Doctors are calling it a “breakthrough.” A rare genetic disorder has been treated successfully for the first time ever. According to the BBC, a research team found a gene therapy for Huntington’s disease that has been shown to slow the disease “by 75% in patients.”
Huntington’s disease is a rare hereditary brain disorder that worsens over time, affects movement, thinking, and mood, according to WebMD. It’s passed down from parent to child through genes.
If one of your parents has the disease, there’s a 50% chance that you will inherit it.
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How the disease works
The disease is caused by a mutation in a specific part of a patient’s DNA, known as the Huntingtin gene, which leads to the production of a damaged version of a protein called the Huntingtin protein. In healthy people, this protein helps the brain function normally. However, in people with Huntington’s disease, the mutated version becomes toxic and kills brain cells over time.
As the disease progresses, patients can experience trouble moving, walking, thinking, focusing and remembering. It also increases the risk of depression and anxiety.
Symptoms usually start in patients in their 30s and 40s; however, they can begin at any age. The symptoms can even start in childhood, but that is less common.
Gene therapy offers hope, but cost remains a concern
Speaking to BBC News, doctors said 29 patients had a “one-off” treatment, which was an injection into six parts, deep into the brain.
uniQure, the company that developed the AMT-130 therapy, said the injections lower the production of the Huntingtin protein, slowing the disease by 75% and providing patients decades more time to live.
The treatment is not licensed yet, and doctors warn it will be expensive.
Researchers said the most frequent side effects were caused by how the treatment was given, not by the treatment itself, and that all of these side effects went away with steroid treatments.
