MILAN, Italy – Just a few decades ago, medical textbooks described spinal muscular atrophy (SMA), particularly its most severe forms, as a condition for which effective treatments capable of changing the course of the disease were largely unavailable. Today, that picture has changed dramatically. Thanks to advances in research, early diagnosis and therapeutic innovation, people living with SMA have greater opportunities to study, work, plan for the future and lead more independent lives.
This transformation is the result of several interconnected developments, beginning with screening and early diagnosis and extending to increasingly effective treatment options and comprehensive support networks. Together, these advances have improved disease management and made it easier for people with SMA to maintain their abilities and manage their daily lives over time.
The latest development is the availability of a new tablet formulation of risdiplam, which complements the existing oral solution. This additional option represents a further step towards simplifying treatment administration and giving people, particularly adults, greater flexibility and autonomy in managing their therapy.
Beyond the disease: Supporting people throughout life
The introduction of risdiplam tablets is the latest milestone in a broader journey of progress that has transformed the understanding and management of SMA.
“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 Milan Clinical Centre. Therapeutic advances have changed the course of the disease, enabling healthcare professionals to support people through different stages of life that were rarely observed in the past, particularly among those with the most severe forms of SMA.
This progress also brings a new challenge: care must extend beyond managing the disease itself to supporting each individual throughout their life. People with SMA need comprehensive, continuous care that takes into account their evolving needs, personal goals and quality of life.
Continuity of care is therefore essential. “Ensuring this, as well as maintaining efficacy over time, is essential for preserving patients’ motor skills and independence,” emphasises Lorenzo Maggi, Director of Neurology Unit 4 – Neuroimmunology and Neuromuscular Diseases at the IRCCS Carlo Besta Neurological Institute.
In this context, the new tablet formulation of risdiplam, which has the same efficacy and safety profile as the oral solution, offers an additional treatment option, particularly for adults. By making daily administration more convenient, it can help simplify treatment management and better accommodate individual lifestyles. The formulation may also offer organisational advantages for hospitals, while expanding the range of options available to support increasingly personalised, patient-centred care.
The importance of screening and a coordinated support network
Although therapeutic innovation has been central to the transformation of SMA care, it is only one part of a broader system of progress. Early diagnosis, access to treatment, coordinated care and social inclusion are equally important in ensuring that advances in medicine translate into meaningful improvements in people’s lives.
“Advances in research, together with the possibility of early detection of SMA through newborn screening, have profoundly changed families’ outlook, allowing them to look to the future with greater confidence,” says Anita Pallara, President of Famiglie SMA.
Newborn screening and early diagnosis can help families and healthcare professionals identify the condition sooner and consider appropriate interventions earlier. Looking ahead, targeted prenatal testing is also being discussed as a potential way to identify SMA before birth and gain valuable time for planning and care.
Achieving these goals requires close collaboration among healthcare professionals, researchers, patient organisations, families and institutions. Over the years, this network has helped reshape the approach to SMA by placing people’s needs at the centre of research and care, promoting earlier diagnosis and advocating for access to innovative treatments.
The next priority is to ensure that these advances are available to everyone across Italy. Equitable access to screening, early diagnosis, treatment and ongoing support is essential if all people with SMA are to benefit from the opportunities created by scientific progress. Simplifying access to care and treatment may be an important part of this effort.
Treatment that adapts to everyday life
As people with SMA live longer and experience new possibilities, treatment must evolve alongside their needs. Convenience, independence and flexibility are increasingly important aspects of care, particularly for adults balancing therapy with work, relationships and everyday responsibilities.
“For an adult with SMA, being able to manage their treatment more easily and independently is no small matter: it means having a treatment that is better suited to their life, rather than a life that has to constantly adapt to the treatment,” concludes Katia Patanella, neurologist at the NeMO Armida Barelli Clinical Centre in Rome.
The evolution of SMA care is therefore about more than medical progress alone. It is about creating the conditions in which people can preserve their independence, pursue their ambitions and participate fully in society. From newborn screening and therapeutic innovation to more flexible treatment options and coordinated support, the goal is to ensure that progress translates into better care and a better quality of life for everyone living with SMA.
Contact
Prof. Valeria Sansone
University of Milan