Adnkronos (Adnkronos) – There's a before and after in the history of spinal muscular atrophy (SMA). Until a few years ago, especially in the more severe forms, a diagnosis meant facing a progressive disease and a limited life expectancy. Today, the scenario is profoundly different: people born with SMA can grow into adults, study, work, build relationships, and imagine their future.
And as therapeutic innovation evolves, life prospects are also changing, thanks to disease management that is increasingly compatible with daily life. A statement says that the new formulation of risdiplam in tablets, now available to Italian patients, fits into this path. It complements the oral syrup solution and represents a further evolution in the way the therapy is administered.
This transformation was made possible by a process built over time.
Advances in research and the arrival of therapies capable of modifying the course of the disease have been accompanied by a growing capacity for networking between the medical and scientific community, patient associations, institutions, and industry. Knowledge of SMA has evolved, as have the therapeutic options and the ability to diagnose it early. Above all, the way we manage the disease and view the person living with it has changed: no longer just a patient to be treated, but a person to be accompanied along a life journey that is now longer, more complex, and richer in perspective.
This is the new reality that emerged during "Brunch & Science: Let's Talk Spinal Muscular Atrophy – The Evolution of SMA Treatment: When Innovation Paves the Way to Independence," sponsored by Roche Italy. A discussion between the medical and scientific community, patient associations, institutions, and the company highlighted not only how much the management of the disease has changed, but above all how much the lives of those who live with SMA every day have changed.
"The SMA we see today is profoundly different from what we knew in the past," explains Valeria Sansone, Professor of Neurology at the University of Milan and Clinical and Scientific Director of the Nemo Clinical Center in Milan. "Therapeutic innovation has allowed us to modify the disease's trajectory, and today we follow people through stages of life that we previously had difficulty observing, especially in the most severe forms. This presents us with a new challenge: we must no longer focus solely on the disease, but on the person throughout their entire life journey." In this new scenario, the concept of stability also takes on a central role: preserving what has been achieved over time and being able to count on the continuity of the therapeutic path means creating the conditions for a more predictable daily life, in which the disease can gradually give way to greater life plans.
"In spinal muscular atrophy, a chronic and progressive disease," emphasizes Lorenzo Maggi, director of Neurology 4 – Neuroimmunology and Neuromuscular Diseases at the Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, "ensuring continuity of treatment and maintaining efficacy over time is essential to preserving patients' motor skills and independence. The availability of risdiplam in tablet form, with equal efficacy and safety to the oral solution, represents an additional opportunity, especially for adults, simplifying daily management of therapy. The new formulation also offers organizational advantages for hospitals and expands the options available based on individual needs, in the pursuit of increasingly personalized and patient-centered medicine."
The change becomes truly understandable when it's shared by those who live with SMA every day. "Advances in research, along with the ability to detect SMA early through neonatal screening, have profoundly changed families' perspectives, allowing them to look to the future with greater confidence," comments Anita Pallara, president of Famiglie SMA. Stefania Pedroni, national president of Uildm, adds: "For adults, being able to rely on increasingly simple and effective intake methods means gaining independence in everyday life and feeling more free to build their own plans." As Valentina Baldini, president of Asamsi, emphasizes, "this is the most concrete value of research: transforming people's needs into new possibilities. To continue doing so, it is essential to work together with a common goal: to continually improve the quality of life."
The transformation of SMA, however, requires more than just scientific innovation. Early diagnosis, screening, management, access to treatment, recognition of needs, and inclusion require a model capable of connecting different skills and responsibilities. Over the years, the medical and scientific community, patient associations, institutions, and companies have contributed, each in their own role, to building a new SMA culture: integrating people's needs into the research and treatment process, promoting increasingly earlier diagnosis, and working to ensure that innovation translates into concrete opportunities.
"The expansion of newborn screening for SMA across Italy is a shining example of how synergy between associations, the scientific community, and institutions can make a difference," comments Lisa Noja, Lombardy Regional Councilor and coordinator of the Intergroup 'Rare Diseases, Neurodegenerative Diseases, and Neuroscience'. "Today, timely diagnosis means allowing new drugs and the most advanced medical discoveries to reach their full potential. The relentless evolution of pharmaceutical research is now offering us extraordinary therapeutic tools that were unthinkable just a few years ago. Continuing to work together is the only way to ensure that every scientific innovation translates promptly into a right to fair, uniform, and accessible care for all."
The new challenge is to ensure that the progress made is accessible equally across Italy. "The evolution of SMA treatment is moving toward increasingly integrated care into people's lives," observes Katia Patanella, a neurologist at the Nemo Armida Barelli Clinical Center in Rome. "Simplifying the intake process means reducing the burden that therapy can place on daily life and, at the same time, promoting greater continuity and adherence to treatment. For an adult with SMA, being able to manage their treatment more easily and independently isn't a minor detail: it means having treatment that better fits their life, rather than a life that must constantly adapt to it." The new formulation thus becomes another piece of a broader shift: from the innovation that has helped change the course of the disease to an innovation that continues to evolve alongside patients, striving to progressively reduce the burden of treatment management on daily life. Because today, in SMA, being able to count on stability and continuity of the treatment process also means having more room to plan for the future.
"I am proud of the contribution that Roche has made and continues to make, through research, to the evolution of treatment options for people with SMA," concludes Anna Maria Porrini, Medical Director of Roche Italy. "The progress made in recent years demonstrates how research and innovation, when combined with listening to people's needs and collaboration between the scientific community, patient associations, and institutions, can significantly change the course of a disease and the life outlook of those who face it. This model must also guide us in other neurological diseases where significant needs remain. Our commitment is to continue researching and working together so that scientific advances can translate into new treatment options and a better quality of life for an ever-increasing number of people."
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