Sandy Patience is a 57-year-old man from Inverness, Scotland, and he has Huntington’s disease. His mother and sister also have this disease, so he has seen others who are affected by the symptoms of Huntington’s. While he shares a diagnosis with his family, his situation is different as he is also enrolled in a clinical trial for RG6042 that has the potential to slow the progression of the disease. The Generation-HD1 study is being conducted by Professor Zosia Miedzybrodzka for Genetech. Sandy hopes that this trial has a positive effect not only on him, but for all of the other 801 participants in the trial.
About Huntington’s Disease
Huntington’s disease is a rare, progressive, neurological disease in which people lose physical and mental functions. It typically affects those of European ancestry with an incidence of three to seven of every 100,000 people. Onset usually occurs in the 30’s or 40’s, and the lifespan after ranges from 15 to 20 years.
A mutation in the HHT gene causes this disease. This gene is responsible for the instructions for a protein called huntingtin, which is involved with the function of nerve cells in the brain. The exact purpose of this protein is unknown. The mutation causes huntingtin to accumulate into long chains, which then break down and bind to neurons. These neurons then die off, causing the loss of brain function. This mutation is passed down in an autosomal dominant pattern.
Symptoms of Huntington’s disease come in three categories: emotional problems, cognitive decline, and uncontrolled motor symptoms. Emotional problems include personality changes, mood swings, anxiety, depression, and impulsive behavior. Cognitive decline means poor decision-making, forgetfulness, and problems with learning and retaining information. The final category includes twitching, shrugging, and problems with walking, swallowing, and coordination. Chorea falls into this category, which is an uncontrolled jerking or twitching movement. All symptoms are progressive, meaning they worsen over time.
There are no treatments for Huntington’s disease, instead the focus is on managing symptoms. Antipsychotic drugs and dopamine-depleting drugs are used for the treatment of chorea. Other medications used are anti-depressants, neuroleptics, and anti-epileptic drugs. Genetic testing exists for this disease, and some with a family history of Huntington’s prefer to use it while others do not.
Sandy Patience was diagnosed with Huntington’s disease in 2017. As his mother died of the disease, and his sister lives in a care home, he knew that he was at risk of being affected by it as well. His grandmother and aunts also had the disease. Sandy’s childhood was much different than other kids’ due to the prevalence of this disease in his family. He spent the majority of his time in the hospital visiting relatives rather than playing outside. While genetic testing confirmed that he does have Huntington’s disease, it also told him that his daughter did not. This result means that his daughter Kimberly and his grandchildren are not at risk of this disease.
Now Sandy is taking part in a clinical trial of RG6042, which is meant to slow the progression of the disease. He says that this trial has given him a purpose, and that he feels like he could really make a difference in his life and the lives of others with Huntington’s.
About the Study
Genetech, which is a biotechnology company, is operating this study in 15 countries across the world and has enrolled 801 participants. They are testing RG6042, which is a strand of genetic code that is meant to bind to the mutated product of the gene that causes Huntington’s. The purpose of this drug is to slow the progression of the disease.
This study is placebo-controlled, meaning Sandy has no idea if he is taking the drug or a placebo. When he travels to Aberdeen Royal Infirmary every two months he must give a sample of his brain fluid before he is given either the placebo or RG6042.
The first phase of this trial has proven that the drug is safe and reduces the level of the toxic huntingtin protein. Researchers hope that the next phases of the trial will be able to prove that it slows or halts the progression of the disease after it has affected the neurons. While there is a lot of work to be done, participants and researchers are hopeful that the results are positive.
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