This is an incomprehensible decision for patients suffering from a rare form of Charcot disease (ALS-SOD1 for amyotrophic lateral sclerosis linked to a mutation in the SOD1 gene). The High Authority of Health decided in October to no longer support an experimental treatment due to its uncertain benefit.
A real blow for the patients concerned; There are less than a hundred in France suffering from this serious degenerative disease. which causes progressive paralysis of the muscles and kills within a few years. This is the case of Sébastien Matt, 48-year-old business manager from Albertville. This father of two children aged 20 and 17 saw the first symptoms appear this year. It was in January. “I could no longer stand on my tiptoes, I no longer had any strength in my calves…” He consults his doctor, but his analyzes do not indicate anything abnormal. He, who runs a cleaning and snow removal company in Méribel (Savoie), initially puts it down to long days.
“You would have seen me in May, I had difficulty moving around”
The end of the season is coming and the symptoms are still there. He then carries out neurological tests and the diagnosis falls: Sébastien, like his mother, suffers from a rare form of Charcot disease.
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The doctors suggest that he benefit from an experimental treatment: Qalsody, based on the tofersen molecule, which aims to slow the progression of the diseaseand administered to certain patients in therapeutic impasse since 2021. Very quickly, Sébastien noticed a improvement in mobility. “You would have seen me in May, I had difficulty moving. They gave me a lift to help me lift my foot, and today, I no longer use it because I don’t I don’t need it anymore. It’s good that there is an evolution.”
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Progress that Sébastien is worried about seeing reduced to nothing, after the decision of the health authorities at the end of October. The authority has refused so-called “early” access to this treatment, a procedure which allows reimbursement of a drug even though ongoing studies have not yet fully demonstrated its benefit. “It hurts my heart”says Sébastien, who bursts into tears. “We give you something and we take it back from you…” His wife Delphine takes him in her arms. “There is the acceptance of the disease, then the fact that there is a treatment which allows you to extend your life. And now, this possibility is being taken away from us”she regrets, also moved to tears.
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“We have to fight”
If Delphine and Sébastien struggle to find the words because they are so moved, They explain to us that they wanted to testify to be helped in their fight. “I fight for my children. It’s quite simple. If I pass this disease on to them, I would like them to have something to overcome it”explains Sébastien. Delphine emphasizes the importance of signer the petition launched by the Association for Research on Amyotrophic Lateral Sclerosis (SLA).
“It is important that people who have ALS and very few of whom can benefit from this treatment can have it. It allows families to have a few extra years. Maybe Sébastien will be lucky enough to be able to be a grandfather with this treatment. Without it, there is very little chance. So it’s really something we need to fight for and make known. We cannot deprive people of something that exists and that can give them additional life expectancy.”
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HAS interviews the laboratory on November 20
The High Authority of Health (HAS) must to hear next Wednesday (November 20) the laboratory which developed the treatment with a view to a new opinion. In a “focus” published Friday November 8the institution claims to have “well aware of the seriousness of this pathology and shares the hope that the arrival of a treatment can give rise to for all the patients concerned”. But she explains “not having any conclusive data enabling it to respond favorably” to the laboratory’s request for early access and the“invites you to provide such data”.
HAS also emphasizes that “the evaluation of the drug Qalsody is continuing, at this very moment, during another procedure, the Biogen laboratory having also requested reimbursement under common law” in addition to its request for early access authorization. “Discussions with the laboratory, which is responsible, if necessary, for presenting any useful data or arguments, will continue in the coming weeks”with a view to a “new opinion”. It will then be up to the public authorities, on the basis of this opinion, to make their decision on the possible coverage of Qalsody by Health Insurance, as is the case for any medication.
