SMA: incremental innovation makes treatment ‘easier’ and improves quality of life

If you were to pick up medical textbooks from a few decades ago, under the heading ‘Spinal Muscular Atrophy’ or ‘SMA’, you might find a definition which, for the most severe forms at least, spoke of a substantial lack of effective treatments capable of altering the very course of the condition. Today, the same textbook would probably present a genuine paradigm shift. The world has changed: thanks to the support network that looks after those living with the condition, people with SMA can study, work and plan for the future. The cornerstone that has enabled this revolution lies in screening and, consequently, the opportunity for early diagnosis (there is even talk of targeted prenatal testing, specifically with a view to gaining time) and unfolds through the intricacies of therapeutic innovation. It is precisely thanks to the availability of treatments that, over time, we have not only achieved better control of the condition but also found it increasingly easier to manage day-to-day life, whilst maintaining stable control of the condition. And it is in this context that a new development is set to offer even greater autonomy and freedom to those undergoing treatment: a new tablet formulation of risdiplam is now available, complementing the oral syrup solution and representing a further evolution in how this therapy is administered.

This development is merely the latest, chronologically speaking, in a journey marked by milestones that have enabled steady progress, and it is currently undergoing a series of treatments, both past and future. “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 innovation has enabled us to alter the course of the disease, and today we are supporting people through stages of life that we previously, particularly in the most severe forms, were rarely able to observe. 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 short, the way we manage the condition and view the person living with it has changed: no longer just a patient to be treated, but a person to be supported throughout a life journey that is now longer, more complex and full of possibilities. In this sense, continuity of care becomes fundamental.

“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 –. The availability of risdiplam in tablet form, with the same efficacy and safety profile as the oral solution, represents a further opportunity, particularly for adults, simplifying the day-to-day management of treatment. The new formulation also offers organisational benefits for hospitals and broadens the range of options available to suit individual needs, in line with the trend towards increasingly personalised and patient-centred medicine”,

The constant evolution of treatments, however, is just one piece of the jigsaw that shapes the present and future of the approach to SMA. “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. Early diagnosis, screening, care management, access to treatments, recognition of needs and inclusion therefore require a model capable of bringing together different areas of expertise and responsibilities. After all, over the years this multi-stakeholder network has helped to build a new culture around SMA, bringing people’s needs into the research and care pathway, promoting ever-earlier diagnosis and working to ensure that innovation translates into concrete opportunities. Now it is vital that these advances become accessible to everyone across Italia, starting precisely with screening and early diagnosis, to ensure that a new outlook on life can truly be a possibility for all people with SMA – perhaps even by capitalising on advances that come about through simplifying the way care is accessed.”

“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, a neurologist at the NeMO Armida Barelli Clinical Centre in Rome.