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The research made possible by the Telethon has helped change the lives of thousands of children and families. Even if many challenges remain to be met, it is important to take a few moments to focus on some of these victories against the inevitability of rare diseases. Advances that can benefit much more common diseases.
From research to the development of treatments, the AFM-Téléthon can today celebrate several victories. President for 20 years, Laurence Tiennot-Herment measures the progress made: “We, families affected by rare diseases that have long been ignored, have not given up, determined to find therapeutic solutions for our children and our loved ones. Today, the first treatments are reversing the course of the disease and saving the lives of formerly doomed children“. Here are some of those victories.
Myotubular myopathy: gene therapy changed their lives
Myotubular myopathy is a rare genetic disease of skeletal muscles that only affects boys. In the majority of cases, the course is fatal in the first months of life, and half of the children die before the age of two.
In 1996, with the support of the AFM-Téléthon, French researchers discovered the gene responsible for the disease. In 2004, researcher Ana Buj-Bello worked on gene therapy to deliver the healthy gene into muscle cells using a transporter, a virus rendered harmless. In 2009, she joined Généthon, the AFM-Téléthon laboratory. In 2017, the trial resulting from more than 20 years of research can finally begin.
“Years of research were necessary to imagine and design the drug vector and demonstrate its effectiveness for this very severe and complex disease. Although we absolutely must understand the reasons for the side effects observed in this clinical study, it is exceptional to see children who were known to be doomed make incredible progress thanks to this drug candidate.” confides the researcher.
Confirmed by studies1, this progress is spectacular, as is the case for Jules. While he needed a machine 24 hours a day to breathe, today he breathes alone; he eats alone; he talks nonstop… Before the treatment, he didn’t realize he had legs. From now on, he discovers the joys of pony riding; he managed to walk, and after discovering cycling, he was able to introduce himself to the pleasures of skiing by going for winter sports! And because pictures are worth a thousand words, check out the video below.
Spinal muscular atrophy: the challenge is to detect it at birth to treat as many children as possible
Spinal muscular atrophy, a rare disease that affects motor neurons, stops muscles from functioning. She often takes children before the age of 2. In 1995, Judith Melki identified the gene responsible for spinal muscular atrophy, thanks to donations from the Telethon. Between 2004 and 2011, within Généthon, Martine Barkats’ team developed gene therapy and demonstrated its effectiveness in repairing motor neurons in mice suffering from this disease. It was then in the United States that a private laboratory raised the funds necessary for human trials and demonstrated the effectiveness of this revolutionary therapy, available since 2019.
Since then, 3,000 children have benefited from it around the world and around a hundred in France. The results are spectacular: the treated babies are able to breathe without assistance, and they acquire the strength allowing them to eat alone, to sit up without assistance, to play with their brothers and sisters, to grow… to live!
Gene therapy stops the progression of spinal muscular atrophy. The earlier it is administered, even before the first symptoms appear, the more effective it is. The challenge is therefore to detect and treat affected children as early as possible. To improve this screening, the AFM-Téléthon financed and launched an experiment in neonatal genetic screening for spinal muscular atrophy in voluntary maternity hospitals in the Grand Est and Nouvelle Aquitaine regions, called Depisma2. The objective is to demonstrate the large-scale feasibility of genetic screening at birth in order to allow affected children to benefit from one of the available medications before the appearance of symptoms and thus give them the chance of a better life. Five babies have been treated since the start of the year following this early detection.
Crigler-Najjar disease: treatment allows patients to change their lives
Crigler-Najjar disease is a very rare genetic liver disease. In these patients, the liver can no longer eliminate a toxic waste, bilurubin, which is formed during the recycling of red blood cells. This causes jaundice which, if left untreated, can cause irreversible neurological damage and even death. The only treatment (apart from liver transplantation) is based on phototherapy, which requires remaining naked for several hours under blue lamps (10 to 14 hours per day) to limit this accumulation of bilirubrin. This greatly impacts the quality of life of patients.
A Généthon team has designed a gene therapy drug currently being tested in a European clinical trial. According to the results published in The New England Journal of Medicine3, this compound made it possible to lower the bilirubin level of 3 treated patients, enough to stop phototherapy for at least 18 months! “I can now go out with my friends, I no longer have to tell myself that I have to come home quickly to do my 8 hours of lamps, I can do things unexpectedly, I no longer have this sword of Damocles above the head” declares Stefania, treated in June 2021.
Even if their bilurubin level is not zero, the treated patients have a quality of life compared to what they experienced before. If these results are confirmed, it could be a first treatment against this previously incurable disease.
A “cell juice” to treat heart failure
Research on rare diseases can help treat more common diseases, as Professor Serge Braun, scientific director of the AFM-Téléthon, points out: “Today, nearly 30 gene therapy drugs are available, including some to treat cancers, the pancreas and even cardiovascular diseases.” underlines Prof. Serge Braun, scientific director of the AFM-Téléthon.
In this last area, ongoing research concerns heart failure (which is very present in cases of neuromuscular diseases, but which affects a total of 1.5 million people in France, particularly those over 60). With the support of the Telethon, a clinical trial led by Professor Philippe Ménasché, cardiac surgeon at the Georges Pompidou Hospital, has just been launched.
For several years, Professor Ménasché and his team have been working on stem cell transplantation in the heart to try to restore function to destroyed heart cells. After using muscle stem cells, then stem cells differentiated into cardiac cells, the teams realized that the action of these cells was mainly linked to the substances they secreted. This “cell juice” or “secretrome” could act as a medicine4.5.
The aim of the current trial is to test the safety and effectiveness of a “cell juice” obtained with stem cells in patients with dilated cardiomyopathy. The principle of this treatment is therefore to use the “repair” factors produced naturally by cardiac stem cells to treat the heart6.
Although the destiny of many patients has already been disrupted, 95% of rare diseases remain untreated today and many diseases still await a diagnosis. To meet these challenges, your donations are essential.
These innovative therapies developed as part of the Telethon – gene therapy and cell therapy in particular – are in fact tested in common diseases such as neurodegenerative diseases (Parkinson’s), vision diseases (AMD), heart diseases (Myocardial infarction) . CAR-T cells, a form of cancer immunotherapy, use technology initially developed to treat immune deficiencies. “Donating to the Telethon means supporting research that can benefit each of us” concludes Prof. Serge Braun, scientific director of the AFM-Téléthon.