According to a story from the University of Aberdeen, 57 year old Sandy Patience of Inverness, Scotland, is one of a total of 801 Huntington’s disease patients from around the world who is taking part in a clinical trial that will hopefully unveil the first disease-modifying therapy for the illness. The trial is testing an experimental treatment called an antisense oligonucleotide that scientists hope will be able to slow the progression of the lethal illness considerably.
About Huntington’s Disease
Huntington’s disease is a heritable disorder that causes brain cells to die. This is a long term, progressive, and ultimately lethal disease that causes severe debilitation over time. The disease is caused by a genetic mutation that affects the HTT gene. It normally appears between 30 and 50 years, but in rare cases it can occur before age 20. Symptoms of Huntington’s may first appear as subtle mood and behavioral changes and loss of coordination. Other symptoms include random movements called chorea, abnormal posture, sleep issues, trouble chewing, swallowing, and speaking, dementia, anxiety, depression, and impulsivity. Nine percent of deaths are the result of suicide. Treatment for Huntington’s disease is symptomatic, with no cure or disease altering therapies available. Most patients die around 15 to 20 years after their diagnosis. To learn more about Huntington’s disease, click here.
The tendency for Huntington’s disease to run in families means that it can have a tragic and devastating effect. Sandy says that nearly every family member that he has ever loved has been diagnosed. His mother, for example, succumbed to the disease at age 59. Sandy’s childhood was often defined by endless trips to visit sick relatives at the hospital. The tragic situation was only compounded further when he received his own diagnosis in 2017.
Needless to say, Sandy was amazed when he heard about the Huntington’s clinical trial and was eager to participate as soon as he learned of it:
“A few weeks later I watched the BBC News at lunchtime and it was saying about the success of the phase one trial for this study. I nearly fell off my seat.” – Sandy Patience
While Sandy certainly hopes that he is being treated with the trial drug and not a placebo, he says that even if he isn’t getting the treatment, the simple fact of getting involved in the trial has helped him ignore the difficulties of the diagnosis and focus on his ability to contribute to the research.