Experimental therapy may help people with Huntington’s disease
About 30,000 people have Huntington’s disease in the U.S., and more than 200,000 people are at risk of inheriting it.
It's a fatal genetic condition that causes the breakdown of nerve cells in the brain and leads to physical and mental deterioration.
Huntington’s currently has no cure, but one researcher and her team have developed an experimental therapy that may enhance patients’ quality of life.
Danny and Katie Miller enjoy taking shots at life and snapping the surprises they find. But what didn’t come as a surprise was Danny’s diagnosis of Huntington’s disease in 2017.
“My father had Huntington’s. My sister has it too,” he reveals.
“The initial response was, you know, kind of devastation,” Katie admits.
With the likelihood of passing it down, the Millers decided not to have children.
“At this day and time, until there’s a better answer for the quality of life, it seems like a bad idea,” Danny explains.
But a finding by researcher Amber Southwell is giving them hope.
Ionis Pharmaceuticals synthesized pieces of DNA, called ASOs, and Southwell injected that into the brains of mice to stop production of the mutant form of the Huntington protein that causes the disease.
With the suppression of the mutant Huntington in mice and neurons in a dish, “We’re able to either prevent the onset of symptoms or actually restore normal functions, if we start treatment after symptoms have begun,” Southwell says.
These findings are leading a pathway to human clinical trials.
That’s good news for Danny.
“Chances for longer and better quality of life, that’s not a cure, but it’s a damn good start for sure,” he says.
Southwell’s study was the first of its kind to look at cognitive function improvement using ASOs for Huntington’s disease.
Right now, the life expectancy for someone with Huntington’s is about 15 to 20 years after onset.
TOPIC: TARGETING HUNTINGTON’S SYMPTOMS
REPORT: MB #4551
BACKGROUND: Huntington’s disease, also referred to as HD, is genetic disorder that is considered fatal. It causes the breakdown of nerve cells in the brain, deteriorating a person’s mental and physical abilities over time. Currently there is no cure. HD is known for being the quintessential family disease as every child of a parent with HD has a 50 percent chance of carrying the same faulty gene. Symptoms are sometimes described as comparable to having Parkinson’s, Alzheimer’s, and ALS simultaneously. Usually appearing between the ages of 30 to 50, symptoms worsen over a 10 to 25 year span. Eventually, the weakened individual dies from complications related to heart failure or pneumonia. Everyone has the specific gene that causes HD, but only those who inherit the expansion of the gene will be at risk for developing HD and risk the probability of passing it on to their children.
SYMPTOMS/DIAGNOSING: Over time HD will affect the ability to walk, reason, and eventually speak. Symptoms may include personality changes, depression, and mood swings, as well as forgetfulness, impaired judgment, involuntary movements or unsteady gait. Slurred speech, difficulty swallowing, and significant weight loss are also possible. Since the defective gene that causes HD was identified in 1993, a diagnostic genetic test is now available to confirm the diagnosis. The test can reveal that the defective gene for Huntingtin protein is the cause of symptoms in patients with suspected HD. It can also detect the defective gene in people who don’t yet show symptoms, but are at risk because of a parent who has it. Experts strongly recommend patients seek professional genetic counseling both before and after HD genetic testing.
CURRENT TREATMENTS: There is currently no cure for HD, and no firm way to stop or slow the brain changes it causes. Treatment therefore focuses on managing the symptoms. Experts recommend several different treatments as a first-line strategy for the most troubling symptoms. Beginning with an atypical antipsychotic drug, such as olanzapine, to treat chorea or involuntary movements. For severe anger and threatening behavior, experts agree this same category of drug is the preferred approach. However, for less severe nonthreatening irritability, experts recommend first trying serotonin reuptake inhibitor, a type of antidepressant. Finally, to treat obsessive-compulsive thoughts and actions, experts also recommend SSRIs.
NEW STUDY: UCF College of Medicine’s researchers have synthesized pieces of DNA to stop production of the mutant huntingtin protein, while successfully leaving the normal Huntingtin proteins intact. The results showed after suppressing the mutant protein in mice, the damage to their brain function not only ceased, but in some cases was completely reversed. More testing is needed to better assess how well this could work in humans, but researchers are hopeful.