Huntington’s disease patients have been handed a new ray of hope.
Neurologists heralded a new breakthrough treatment, revealed Wednesday, as ‘nothing less than the dawn of a new age’, while families said it was ‘fantastic’.
Huntington’s disease is a devastating genetic condition in which a single faulty gene causes toxic proteins to build up in neurons, killing nerve cells and eventually leaving sufferers unable to move, care for themselves or think clearly.
About 30,000 people in the US have the condition, estimates suggest, with patients able to live normally until symptoms emerge often around their 30s and 40s.
About 700 to 800 sufferers die every year, with most deaths linked to complications caused by the disease, such as problems swallowing, which leads to foods and liquids entering the lungs, causing pneumonia and choking.
On average, patients only live about 10 to 20 years after their symptoms begin.
Scientists have struggled for years to find a cure for the disease, but now, researchers say they may finally be on the cusp of a treatment with a new gene therapy that could help cells clear the toxic proteins behind the condition.
In a three-year study where the treatment was infused into the brains of 29 patients, 75 percent saw the progression of their symptoms slow significantly, researchers said.
Marianna Palka is shown above in 2019 in Los Angeles, California, attending the 2019 Netflix Primetime Emmy Awards After Party. She tested positive for the Huntington’s gene in 2014
Dr Edward Wild, a consultant neurologist at University College London Hospitals who was involved in the research, said: ‘This result is the good news we’ve been working and waiting for: not just a treatment that slows progression of this terrible disease, but one that does so with truly stunning effectiveness.
‘It is nothing less than the dawn of a new age for families impacted by Huntington’s disease.
‘We must now work no less diligently to turn this breakthrough into something that benefits everyone who needs it.’
What is Huntington’s disease?
The disease is a genetic disorder caused by a fault in the Huntingtin, or HTT, gene.
Normally, this gene provides instructions for making the huntingtin protein, an essential protein in neurons for moving other components around the cell.
But when this gene is mutated, as in Huntington’s disease, it causes the body to create a toxic and misfolded huntingtin protein.
These proteins build up in cells and form clumps that interfere with normal cellular functions, leading neurons to gradually decay and die, triggering the symptoms of Huntington’s disease.
The mutation can also cause waste proteins to start to build up because the huntingtin protein is not able to transport them out of the cell.
What puts me at risk of the disease?
Huntington’s is not an infection that can be caught from others, but rather it is a genetic disorder passed down from parent to child.
Every person inherits two copies of each gene, one from their mother and one from their father. And Huntington’s follows an autosomal dominant pattern, meaning just a single faulty copy is enough to cause the disease.
This means that each child of a parent with Huntington’s disease has a 50 percent chance of inheriting the defective gene.
Shown above is country singer Woody Guthrie, who died from Huntington’s disease in 1967 at the age of 55. The above photo was taken in New York in the early 1940s
As symptoms do not appear until someone is in their 30s or 40s, many patients have already had children before the warning signs appear.
In the vast majority of cases, the condition is inherited, though on very rare occasions it can arise spontaneously from a new mutation in the huntingtin gene.
What are the symptoms?
Huntington’s disease patients progress through three stages, according to the Huntington’s Disease Society of America.
In the early stage, sufferers may have minor involuntary movements, such as unexpectedly fidgeting or twisting the fingers, feet, face or torso, and may also suffer from a subtle loss of coordination. They might also have trouble thinking through complex problems.
In the middle stage, symptoms become more advanced, with involuntary movements becoming more frequent, in some cases, individuals also struggle to walk, often needing to use a walker.
Patients may also start to struggle with swallowing, balance and may have weight loss.
Many also experience depression, which is a direct impact of the disease on the brain because it causes a degeneration in neurons that control mood.
These symptoms tend to leave patients unable to continue to work or drive and they may also no longer be able to manage their own finances or household chores, but they can still eat, dress and attend to personal hygiene.
In the final stage, the disease becomes very advanced and patients are often nonverbal or bedridden, although experts say they still show signs of comprehension.
At this stage, the involuntary movements are replaced by rigidity in the muscles or involuntary and sustained contractions.
Patients do not tend to live more than 10 to 20 years after symptoms emerge, on average.
Are there any treatments?
Doctors say there are no treatments to alter the course of the disease, but there are medications available that can alleviate some of its symptoms.
Physicians at the Cleveland Clinic say they can prescribe drugs to help reduce the involuntary movements.
They may also prescribe antidepressants and mood-stabilizing medications to help ease the depression caused by the disease.
For the first time, scientists have been able to slow the cruel neurodegenerative disease by up to 75 percent in patients (stock photo)
At the Mayo Clinic, doctors say patients will be offered a psychotherapist, speech therapist or physical therapist to help someone maintain movement and speech for as long as possible and develop coping mechanisms with their family.
It may also be possible to prevent a sufferer from passing the condition on to their children by using IVF, where genetic screening is used to ensure only unaffected embryos are implanted.
What is the new breakthrough medication?
The new medicine, developed by Netherlands-based biotech company uniQure, uses gene therapy to treat the disease.
The medicine 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 then delivers new DNA to the cells, causing them to create a new messenger RNA, a protein precursor, that scientists say can clear the mutated huntingtin protein from nerve cells.
The treatment has been tested on 29 patients so far, who were tracked for three years after receiving the treatment.
Overall, 75 percent showed a slowing of the progression of their symptoms after treatment.
The manufacturer now says it hopes to make the treatment available to others by late 2026. It is likely to cost tens of thousands of dollars per treatment.
Dr Ed Wild, a consultant neurologist at the National Hospital for Neurology and Neurosurgery at University College Hospital London, who was involved in the research, said: ‘This is the result we’ve been waiting for.’
‘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. It’s very difficult to fully encapsulate the emotion.’