Researchers say the early human clinical trial indicates this new medication can stop progression of the deadly neurodegenerative disorder.
The biggest breakthrough ever in Huntington’s disease treatment may have just been achieved.
Researchers at University College London say they have developed a new drug that could eventually stop progression of the neurodegenerative disorder.
The experimental drug, which has been under development for more than a decade, has been proven to be safe in its first human trial.
The drug is injected into a patient’s spinal fluid. Researchers say it has shown promise in lowering the levels of mutant huntingtin, the protein that causes Huntington’s disease (HD).
While the research is still in its early stages, these early results have been promising.
Patients, advocates, and doctors are excited.
“The group that did this study is a very well-coordinated and capable group with good control, so there are reasons to be hopeful,” Dr. Sandra Kostyk, a professor in the Departments of Neuroscience and Neurology at The Ohio State University’s Wexner Medical Center, told Healthline.
Louise Vetter, president and chief executive officer of the Huntington’s Disease Society of America (HDSA), echoed optimism.
“The news is an exciting milestone for the HD community and gives us renewed hope that huntingtin levels can be lowered safely and with the potential for therapeutic benefit,” Vetter told Healthline.
Huntington’s disease causes cognitive, and eventually, physical issues that get progressively worse.
These issues range from uncontrolled tics and movements to difficulty feeding and swallowing.
Onset of Huntington’s disease typically occurs between the ages of 30 and 50.
While symptoms can be treated to an extent, there is no known cure, and the disease is ultimately fatal.
Around 30,000 Americans have the disease, which is inherited.
People with the genetic abnormality have a 50-50 chance of developing Huntington’s.
“I’ve been treating Huntington’s patients for 18 years, so I’ve seen families, multiple generations of families, with Huntington’s disease,” said Kostyk.
When it comes to treating Huntington’s, support is key.
“With someone who’s just been diagnosed, people often take the diagnosis as a death knell,” said Kostyk. “It does slowly progress and there’s no cure. There are things we do to try to make people’s lives better. One of those things is just being connected to the local community for support.”
Katharine Moser knows this journey all too well.
“I grew up in a family that was affected by Huntington’s disease,” she told Healthline.
Moser, an occupational therapist, underwent genetic testing in 2005, finding that she has the genetic mutation that causes Huntington’s.
“And with that, I got involved with HDSA and fundraising, doing education. I was working at Cardinal Cooke in Manhattan, which is a long-term care facility that has a Huntington’s disease unit, so that’s what I was doing when I went through genetic testing,” she said.
Moser says that, through her years of advocacy and volunteer work, the research out of London is the most promising yet for the Huntington’s community.
“It’s definitely something to give a lot of people hope for the future,” she said. “It’s been the most promising thing that we’ve had going for many, many years now.”
Ann, 62, frequently pauses to gather her thoughts.
“It’s what I call my ‘Huntington’s brain’ — sometimes, the word I want escapes me for a few seconds, so if you hear a moment of silence, that’s just my brain trying to find the pathway to the word I want,” she told Healthline.
Unlike most Huntington’s patients, Ann’s symptoms started to develop in her late 50s.
Ann was diagnosed in 2014. Her mother, who eventually died of the disease, started to develop symptoms in her late 60s.
“By the time my mother’s symptoms became apparent, we had completely forgotten about her telling us about her risk factor,” said Ann, who didn’t want her last name used. “She had mentioned it, but since she did not exhibit symptoms at that time, she thought that she did not have the abnormal gene. So, she didn’t say anything more about it and we kids completely forgot about it.”
Ann says that one of the things that first drove her to seek consultation, and ultimately be diagnosed with Huntington’s, was balance issues.
“I would be riding a bike and, all of a sudden, find myself off the bike path and in the bushes, with no idea why it happened,” she said.
While Ann is still able to work, she’s not sure how long that will last, particularly as she experiences problems with multitasking and short-term memory.
“I have been able to compensate so far, especially with very understanding coworkers and managers,” she says. “I don’t know how much longer I’ll be able to — I guess we’ll see. But that’s what will eventually drive me out of the workplace.”
Now, a little more than three years after her initial diagnosis, Ann says that the symptoms are becoming more noticeable.
For starters, she can no longer drink using a standard drinking glass because Huntington’s affects the muscles that aid in swallowing.
“I have to use a straw or a sports bottle so I can keep my head down, or else I will choke,” she explains.
Ann’s physical symptoms include balance issues. When standing up, she needs to have something sturdy nearby in case she starts to fall.
“When I sit quietly, or when I go to bed and I’m just lying quietly, I have involuntary movements,” she says. “They come in the form of little twitches and jerks right now. When I’m not purposefully moving my hands or my face, all these little movements take over. My fingers will jump a little bit, and I have a couple of places in my face where the muscles will jump.”
Despite the numerous ways in which Huntington’s affects her life, Ann is excited about the recent research.
“To find out that there is a promising medication that doesn’t just treat symptoms, but actually treats the issue closer to the root of the problem, is just indescribable,” she says. “To know that maybe soon, there will be a medication that I can take that might not cure it, but will at least slow it from getting worse, is wonderful.”
“My biggest fear is that one of my children, or one of my grandchildren, has this gene that I’ve passed to them,” she said. “One of my mother’s biggest sorrows, before she passed of her complications, was that one of her children had the gene.”
The research out of London shows promise, but it needs more study participants in order to move forward.
“In this trial, there are specific inclusion criteria. It’s not just taking a pill,” said Kostyk. “You need close follow-up, and it needs to be done at a site that won’t be available everywhere. But we will need volunteers.”
“One of the things that we encourage people to do is to participate in the international observational trial where we’re continuing to learn, to get more data on the progression of the disease,” she said.
Moser says that, as Huntington’s is a rare disease, it can be challenging to find research participants.
“I think the most important thing to take away is that the research is not over yet, and they’re going to need people to participate in clinical trials in order to bring this exciting news onto the next phase,” she said. “The faster that they recruit for that, the faster they get results.”
Vetter says that her organization is encouraging families affected by Huntington’s to participate in ongoing and future studies.
“While we await the start of the next trial of this compound by Roche to test efficacy, the most important thing that HD families can do is to get involved with ENROLL-HD, a global observational study for the HD community which is an important tool in deciding the sites for upcoming trials,” said Vetter. “And, of course, sign up for HDTrialFinder.org so that when new studies launch, you get the news quickly.”
As a disease that was poorly understood until a few decades ago, Ann says there’s still a pressing need for continued study of what factors influence Huntington’s.
“We still need a lot of research,” she says. “Until then, we go on with each person who has it having a 50 percent chance of passing it to their children. It’s still a roll of the dice whether or not you get the gene.”
“Because of the genetic nature of HD, many families choose to hide their HD risk and disengage from the HD community at large,” says Vetter. “For those most hopeless families, this news is tangible evidence of the scientific commitment to ending this disease. We will not rest until the burden of HD is lifted.”