the Huntington’s disease It is a devastating disease. It occurs in young people – between 30 and 50 years old – and at the age of 15 – 20 years of age it causesIt leads to cognitive impairment, movement problems, and mood swings.
It is easy to detect through genetic testing, due to a Mutation in the gene that encodes hongtininIt is a protein found in all nerve cells in the brain and is essential for their development. Since it was not coded well, this change It causes long-term damage and death of these cells.
Currently, it is estimated that there are 4000 cases in Spain Of this disease, but since it is hereditary and can be transmitted from parents to children at a rate of 50%, it will be necessary to add other diseases. 14,000 are at risk of developing it.
Although it is classified as a rare disease, after Alzheimer’s disease and Parkinson’s disease, it is the third most common neurodegenerative disease, and currently, there is no specific treatment or treatment, only Palliative treatments and symptoms.
However, this may change in the medium term, as shown Ruth Blanco, President of the Korean Society of Hispanic Huntington and FEPAEH (Spanish Federation of People Affected by Huntington’s Disease) “We are experiencing a very strong moment in research,” as there are many ongoing studies that could find a specific treatment within a reasonable period of time.
Some of these hopes, such as those pinned on gene therapy that promised good results, fell on deaf ears, but they do not lose hope, as currently 52 companies have research projects in Huntington“Many diseases are classified as minority.”
We are at a very strong moment in Huntington’s research
Two dashed hopes
In 2017, a Roche study gave Huntington’s patients hope for the first time by testing a treatment that promised to be effective for Huntington’s disease. However, it was discontinued soon after due to its ineffectiveness.
Eight years later, something similar happened. At the end of September, UniQure announced the results of a trial with… Gene therapy “It reduced the progression of the disease by 75%. “It’s a very impressive treatment, because they make trephine in your brain, they inject you with an adenovirus and you They change your genetic codeRuth Blanco explains.
However, although the news spread around the world, it was only after a few weeks, during “BLA” (Biological Products License Application). (Biology License Application in English), which is a process that companies must follow before… Food and Drug Administration To obtain marketing authorization for a drug in the United States, it was considered that it did not meet the requirements for approval in the first quarter of 2026, as planned, as the results were still very preliminary and it had been tested on too few people.
“The patients were very excited, because It could have been the first effective treatment in modifying the progression of the disease“But we from Roche do a lot of educational studies on what these experiments mean, which can have very positive impressions at first, but go nowhere,” Blanco says resignedly.
This new “patakazo” is joined by the fact that Either (The European regulatory agency) also did not approve the drug they were waiting for. It’s about Pridopidine It is an oral molecule that focuses on neuroprotection and is also being tested in patients with amyotrophic lateral sclerosis. This time, the reason was that its positive effect – slowing the progression of the disease – had only been proven in patients who were not taking it. Dopamine antagonista medication that, although not intended for Huntington’s disease, is taken by some patients due to the lack of therapeutic alternatives.
In this case, they have hope, although it will have to be later, as a new trial is scheduled for next year “aimed more at being able to refine the basic objectives so that the data is more consistent with their findings so far.”
Science will always arrive too late for many families, but we must be patient, careful, and understand that we must give researchers time
Despite these two new disappointments, hopes remain, because all over the world There are 52 companies conducting research into Huntington’s diseaseWhether in gene therapies, in drugs aimed at stopping the disease, or in drug repurposing, that is, in testing drugs that have already been approved to treat other diseases that they believe may be effective in treating Huntington’s disease.
Problem once Science does not move as quickly as patients’ needs“It will always arrive too late for many families, but we have to be patient and careful and understand that before we get the medicine, we must give the researchers time,” says the president.
They ask patients for time and caution, however Commitment to departments So that they can reach it as soon as possible when they finally get treatment.
Live while the cure arrives
While research materializes into treatments, families must continue to live and care for the patient with Huntington’s disease, “maybe the parent, maybe the child, maybe the grandchild… because this It is a generational disease Ruth Blanco emphasizes that this is more challenging than having just one patient in a family unit.
They do this without the specific treatments or institutional support they might need. “now, There are only symptomatic treatmentsthe same one that anyone can take to treat depression, a sleep disorder, a mood problem, or a loss of impulse control… which is why so many expectations are created every time a drug or clinical trial is updated.
They are also cautious, but optimistic, regarding administrations, as Huntington’s disease has finally been listed in the U.S. National Strategy for Neurodegenerative Diseases“We were the last to have the approach document, which is the road map on the basis of which real strategies are developed in the field of care, in the health field, in the social field… At the moment, for example, patients They do not have specialized centers We have great challenges in finding places that welcome them, because they are complex and unconventional patients: they are young, and they have behavioral, cognitive, physical and motor problems…”
There are social workers who keep files in dependency law and do not know about the disease, and therefore it is very difficult to assess the needs of patients.
To which it is added that there is Lack of training of professionals Social workers complain about this disease, “Unfortunately, there are social workers who keep files in the maintenance law and have never heard of the disease before, and therefore it is very difficult to assess patients’ needs.”
He hopes that this problem will be resolved, or begin to be addressed, once the document is approved at the next Regional Health Board. “We hope that it will not remain just a piece of paper and that it will begin to be effectively implemented in each autonomous community in terms of funding and services so that this will improve in time.” Patients’ quality of life“This is what we want.”
Regarding the amyotrophic lateral sclerosis law, they believe that, unfortunately, it will not benefit them much, “the coverage will be anecdotal due to the fact that some criteria must be met simultaneously, such as a significant reduction in life expectancy, income in the last six months or the issue of basic life support. These are peculiarities that are very difficult to occur simultaneously in a Huntington’s patient. whose life expectancy is between 15 and 20 yearsAlthough in very advanced stages they require life support.
At the request of associations of patients with other degenerative diseases, they wish to mobilize the resources proposed by this law for the benefit of patients with amyotrophic lateral sclerosis. May be made available to patients with similar needs“And it’s not just what the recent Care Act points out, but also the multidisciplinary teams and reference units… resources that can also be improved for the care of patients with Huntington’s disease, because the professionals are the same,” he insists.
All of this will be on the table in one day Promoted by Vibe Which will be held on Saturday, the 15th of this month, in the Assembly Hall Ramon y Cajal Hospital From Madrid. It will be attended by medical professionals, neurologists and researchers, and is aimed at families, professionals and “anyone interested in learning more about the disease.”
Also, to help with training, dissemination and awareness about the disease, on this day they will present the Huntington Academy, a website with free online training modules containing all kinds of information about the disease aimed at families and professionals alike.
Those interested in attending the event can click on this link.
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