of huntington’s disease It’s a devastating disease. It occurs in young people between the ages of 30 and 50 and progresses over 15 to 20 years.Cognitive impairment, movement disorders, mood swings.
It can be easily detected with genetic testing, but the causes are: Mutations in the gene encoding hangingtintina protein present in all neurons in the brain and required for their development. Because it was poorly coded, this change causes long-term damage and death of these cells.
At this time, it is estimated that there are: 4,000 people infected in Spain But other factors must be added, as it is hereditary and can be transmitted from parent to child in 50% of cases. 14,000 people are at risk of developing the disease.
Despite being classified as a rare disease, it is the third most common neurodegenerative disease after Alzheimer’s disease and Parkinson’s disease, and there is currently no cure or specific treatment for it. Palliative and symptomatic treatment.
However, as explained, this may change in the medium term. Ruth Blanco, President of the Spanish Huntington’s Disease Korean Association and FEPAEH (Spanish Federation of People Affected by Huntington’s Disease) “We are at a very powerful moment in the research field,” he said, noting that several studies are underway that could potentially lead to finding a specific treatment within a reasonable period of time.
Some of these hopes, such as gene therapy that promised good results, have fallen by the wayside, but hope is not lost. 52 companies with research projects in Huntington“Many are diseases that fall into the minority category.”
We are at a very powerful moment in research at Huntington.
two shattered hopes
In 2017, research from Roche brought hope to Huntington’s disease patients for the first time when a promising treatment was finally tested. However, it was quickly discontinued as it was ineffective.
Eight years later, something similar happened at the end of September, when UniQure announced the results of a joint study. gene therapy This reduced disease progression by 75%. “This is a very impressive treatment. Trephine is made in the brain, adenovirus is injected, they change your genetic code” explains Ruth Blanco.
However, although the news spread around the world, just a few weeks later, “BLA” (biological product license application) (Biologics License Application), the process companies must follow before applying for a license F.D.A. Obtaining marketing authorization for the drug in the United States is unlikely to meet the requirements for approval in the first quarter of 2026 as planned, as the results are still very preliminary and have been tested on a very small number of people.
“The patients were so excited. It would have been the first effective treatment to change the course of the diseasebut from Roche we have a lot of education about what these trials mean, which may seem very positive at first, but in the end it’s of no use, ”says Blanco resignedly.
This new “Batakaso” adds the following facts: EMA (European regulators also) did not approve the long-awaited drug. it is, Pridopidine It is an orally ingested molecule that focuses on neuroprotection and is also being tested in ALS patients. This time, because the positive effect of slowing the progression of the disease was proven only in patients who did not take it. antidopaminergic effectwhich is not specific to Huntington’s disease, is a drug that some patients take because there are no alternative treatments.
In this case, they have hope, although it will have to come later, because a new trial is planned for next year, “more aimed at allowing us to refine the main objective so that the data is more in line with the findings obtained so far.”
Science is always slow to arrive for many families, but we must be patient, cautious, and understand that we must give researchers time.
Despite these two new disappointments, hope remains. There are 52 companies researching Huntington’s disease.Whether it’s gene therapy, drugs aimed at stopping the disease, or drug repositioning – in trials of drugs already approved for other diseases that might be effective against Huntington’s disease.
The problem is once Science doesn’t move as fast as patients’ needs“For many families, the arrival of medicine is always delayed. But we must be patient, cautious, and understand that we must give researchers time before taking medicine,” says the president.
They ask for their time and attention, but Commitment to government This is to ensure that you receive treatment as soon as possible when it is finally available to you.
Stay alive until treatment arrives
While research materializes into treatments, families must continue to live and care for people with Huntington’s disease, “maybe parents, maybe children, maybe grandchildren…because this is it.” It’s a generational disease And that is an even bigger challenge than when there is only one patient in a family unit,” emphasizes Ruth Blanco.
And they do it without the special treatment or institutional support they might need. “Right now, There is only symptomatic treatmentThese are the same things anyone can take to treat depression, sleep disorders, mood issues, loss of impulse control, etc…and that’s why there’s so much anticipation every time there’s an update on a drug or clinical trial. ”
They are also cautiously optimistic about dosing now that Huntington’s disease is finally included. National strategy against neurodegenerative diseases“We have finally produced an approach document that is a roadmap for developing a real strategy in the field of care, in the field of health, in the field of society… For example, a patient now There is no specialized center And because they are complex and unconventional patients, there are big challenges in finding places that will accept them. They are young and have behavioral, cognitive, physical and motor problems…”
Some social workers who keep addiction law files are unaware of this disease, which makes it very difficult to assess the needs of their patients.
In addition to that, Lack of professional training When I ask social workers about the disease, he complains, “Unfortunately, some of the social workers who keep addiction law files have never heard of this disease before, which makes it very difficult to assess the needs of patients.”
He hopes that once the document is approved by the next Territorial Health Council, this issue will be resolved or started to be addressed. “We hope that this document will be more than just a piece of paper and will begin to be effectively applied in each autonomous community in terms of funding and services, and that improvements will be made in a timely manner.” patient quality of lifethat’s what we want. ”
As for the ALS Act, they believe it will unfortunately provide little benefit to them, stating that “coverage will be anecdotal due to the fact that several criteria must be met at the same time, such as a significant reduction in life expectancy, income in the past six months, and basic life support issues, which are peculiarities that are very difficult to co-occur in Huntington’s patients.” Average lifespan is between 15 and 20 yearsHowever, in very advanced stages life support is required. ”
In response to requests from patient groups for other degenerative diseases, they hope this legislation will mobilize the resources it proposes for patients with ALS. Can be made available to patients with similar needs“And we need not only what the latest medical legislation points to, but also because the experts are the same: multidisciplinary teams, reference units…resources that can also be optimized for the care of Huntington’s patients,” he argues.
All this will be on the table in one day driven by Fepae It will be held this Saturday, the 15th, at the Parliament House. Ramon y Cajal Hospital Born in Madrid. It includes medical experts, neurologists and researchers, and is aimed at families, professionals and “anyone who wants to learn more about this disease.”
Also, to help train, disseminate and raise awareness about this disease, on this day we will be introducing The Huntington Academy, a website with free online training modules containing all kinds of information about this disease for both families and professionals.
If you are interested in attending the event, please click this link.
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