“Objectives
Spinal muscular atrophy (SMA) is a rare disease characterized by progressive motor neuron degeneration caused by insufficient levels of the SMN protein. Risdiplam is a SMN2-directed RNA splicing modifier and the first oral drug developed. We describe clinical findings and evolution of a cohort of Risdiplam-treated patients.

Patient and Methods
We report real-world findings on efficacy and safety in 18 SMA patients treated for at least 12 months. Our sample included 4 SMA1, 6 SMA2, and 8 SMA3 patients, followed up for a mean of 21.2 months. Changes in life endpoints (respiratory and/or nutritional support) and motor outcomes were evaluated, and AEs data were collected.

Results
The mean disease duration at the beginning of therapy was 30.2 years. At baseline, 55.6% were non-sitters, 27.8% sitters, 16.7% walkers. Swallowing problems were present in 44.4% of them, with 27.8% fed through PEG;16.7% had a tracheostomy. No changes in these parameters were seen during follow-up.
The average CHOP-intend score passed from 6.3/64 to 6.2/64 points. The average HFMSE passed from 1.0/66 to 1.3/66 points in SMA2 patients and from 19.5/66 to 19.4/66 points in SMA3 patients. The average RULM score from 2.5/37 to 1.0/37 in SMA2 patients and 18.4/37 to 18.2/37 in SMA3 patients.
No deaths were registered. 3 patients reported mild side effects such as weight gain, asthenia, and radicular pain.

Conclusion
We observed a substantial clinical stabilization in all the patients during treatment. Some minor worsening in motor abilities was only observed in upper limb function (RULM) in SMA2 patients. Real-world experience confirms good tolerance for the treatment.”