Amyotrophic lateral sclerosis

SMA patients: following innovation, the new challenge is quality of life

We must not have to choose between scientific innovation and social revolution: the two must go hand in hand

by Anita Pallara *

18 September 2026

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3' min read

Translated by AI

Versione italiana

3' min read

Translated by AI

Versione italiana

There are times when a community pauses to look back on the journey it has taken and realises that, in the meantime, almost everything has changed. For people with spinal muscular atrophy (SMA), this is one of those times.

After the therapeutic revolution

New treatments have profoundly altered the natural history of the disease and opened up prospects that, until just a few years ago, were difficult even to imagine. But it is precisely these advances that now require us to change the way we view SMA. The therapeutic revolution cannot be the end point: it must become the starting point for a new era, one centred on people and their quality of life.

This is the common thread that ran through our national conference: the changes taking place within our community and the need to ensure that these are accompanied by an equally significant evolution in the healthcare and support system.

The person at the centre

For far too long, we have talked about SMA almost exclusively in clinical terms. Today we know that treating a disease does not necessarily mean ensuring a good quality of life. A person with SMA is not merely the result of a test, a motor function assessment or a response to treatment. They are a person who studies, works, plays sport, builds relationships, travels, falls in love, becomes a parent and makes plans. They have desires, expectations and needs that change over the course of their life.

Putting the individual at the centre therefore means recognising their uniqueness and building a care programme around them that looks beyond their condition. It means focusing on health, but also on independence, inclusion, education, work, mobility, psychological support and support for families and carers.

The challenge facing the NHS

This is a challenge that also concerns the National Health Service. Innovation only makes sense if it translates into equitable access to care, regardless of where a person is born or lives. And care should not end when the most clinically intensive phase is over, but should support the person throughout their entire life.

Priority neonatal screening

In this context, newborn screening remains a priority for Famiglie Sma. Once again, during the conference, clinicians reminded us just how much early diagnosis and the prompt initiation of care can radically alter the course of the disease. Today, we have a real opportunity to intervene before the damage becomes irreversible. That is why we cannot accept that this opportunity should depend on the area in which a child is born.

I would add that effective care must also be prepared to deal with the unexpected. This is why the renewal of our partnership with the Italian Society of Emergency and Urgent Medicine (Simeu), aimed at improving the management of people with SMA in emergency situations, is particularly important to us. A&E is often a setting where time is short and knowledge of a patient’s medical history may necessarily be limited. Having agreed guidelines, appropriate protocols and trained professionals means reducing the risk of inappropriate interventions and ensuring greater safety.

This, too, is part of quality of life: knowing that, when something happens, the system is equipped to recognise the specific needs of a person with SMA.

Upcoming milestones

We have come a long way. We owe this to research, to clinicians, to families, to institutions and, above all, to people with SMA who, for years, have helped to change the very way we view the disease. But it is precisely the results we have achieved that call on us to raise the bar even higher.

The challenges ahead will be ensuring equitable access to treatment, the scope and consistency of screening, continuity of care, emergency management, support for carers and, more generally, the opportunity for every person to shape their own life path.

We must not have to choose between scientific innovation and social revolution. These two aspects must go hand in hand.

Nowadays, it is no longer enough to ask ourselves how much we have managed to change the disease. We must ask ourselves how much we have managed to change people’s lives.

This is where we will truly gauge the value of innovation. And this, for our community, is the next major challenge.

* President of Famiglie SMA