Rare Diseases, Sma: Online Distance Learning for Emergency Management

The management of thespinal muscular atrophy (SMA)in emergency situations and access to the emergency room, is complex. To promote correct and timely care of people with this rare disease by professionals in emergency and urgency medicine, a training course has been createddistance learning (Fad) free and available on the Fad Simeu training portal, Italian Society of Medicine and Emergency Urgency. Online from July 15, 2024 to July 14, 2025 – reads a note – has already registered 343 reservations for the thousand places published, and 149 have already completed the course and obtained the ECM credits.

In Italy – the note reports – Every year, approximately 40-50 children are born with SMAa disease that progressively makes daily tasks such as sitting, standing and, in the most serious cases, swallowing and breathing difficult. The management of patients with this pathology in emergency situations does not always coincide with the normal procedure implemented for those who are not affected. To give a concrete example, if the standard protocol in the case of a respiratory crisis is the simple administration of oxygen, for a child or an adult with SMA this type of intervention could prove inappropriate and dangerous. Now, for the first time, in Italy emergency-urgency operators will be able to train by referring to shared recommendations developed thanks to a collaboration between the patient association Famiglie Sma, the Nemo clinical centers, Simeu and the Italian Society of Pediatric Emergency Medicine (Simeup), with the unconditional support of Roche.

“This project for us has a very important value and a deep meaning, because access to the emergency room has always been a critical issue for our community – he says Anita Pallarapresident of Famiglie Sma – Since these are emergency situations and times are hectic, exchanging information is complex, and we are aware that when faced with a rare disease like SMA, not all centers can be trained and informed enough. This is why this project is so precious to us. We thank the Nemo, Simeu and Simeup Clinical Centers for their effort and commitment in ensuring that every person has safe access in the most critical moments when their life is at risk. A deep thank you also to Roche Italia for having believed in and strongly wanted this project, understanding the importance “it has” for our entire community. We are confident that, thanks to the commitment and awareness in training healthcare personnel, the situation will improve and we are convinced that this is only a first step, today for people with spinal muscular atrophy, tomorrow for rare diseases”.

Second Fabio De Iaconational president of Simeu, “the objectives of emergency medicine cannot but be effectiveness and appropriateness, in every condition and for every patient. In this sense, rare diseases constitute a particularly demanding challenge. The initiative of the training course, which follows the drafting of shared recommendations, has the value of collaboration between specialists of different backgrounds, of the fundamental sharing with patients, of virtuous and ethical collaboration with the industry. The example of how Simeu wants and must work. Now, with the free course available to professionals who want to train – he adds – we face the most difficult challenge: that of the dissemination of the contents, as extensive as possible, in such a large and widespread national emergency network”.

As he observes Valeria Samsonclinical-scientific director of the Nemo Clinical Center in Milan, “despite having innovative therapies for SMA available today that are significantly changing the trajectories of the disease, it remains essential to maintain a multidisciplinary approach in taking charge and ensuring correct management of emergencies. Situations such as acute infectious episodes – he explains – or the management of trauma or, again, interventions under anesthesia, require more than ever adherence to recognized standards of care. For this reason, training emergency room professionals in the management of emergencies for this rare disease allows us to extend and standardize the same intervention approach, to guarantee an effective treatment response for everyone”.