Oral treatment in patients with SMA type 2 and type 3 is effective for at least 4 years

● Improvements in motor function in patients from the SUNFISH study, observed in the first year of oral treatment, persisted into the fourth year.

● Both patients and their caregivers noted steady improvement or at least stabilization in their ability to perform daily activities, such as eating, drinking, combing their hair, brushing their teeth or fastening buttons independently.

● Adverse events and serious adverse events were related to the disease itself, not
to the treatment. The percentage of adverse events decreased over 48 months.

The SUNFISH clinical trial was one of the studies that registered the oral drug risdiplam for use in patients with spinal muscular atrophy (SMA). The study involved 180 patients between the ages of 2 and 25 years old with SMA type 2, i.e., those who never started walking independently, and with SMA type 3, who have lost the ability to walk independently. This is the only registration study of a drug for SMA that includes adult patients. Importantly, patients who had been excluded from trials of other drugs due to high disease severity were also eligible for the SUNFISH study. The majority of participants in the SUNFISH study were patients with scoliosis, severe scoliosis, past spinal surgery and generally low baseline scores on scales assessing motor function.

Advantageous 2-year results were the basis for registration of the drug

The most significant parameter analyzed in the SUNFISH study was the change in the MFM-32 (Motor Function Measure) scale, which is a validated instrument used to assess motor abilities in children and adults with SMA. In the natural course of spinal muscular atrophy, there is always a gradual deterioration of motor function, i.e. patients lose more points, while among the participants in the SUNFISH study there was a noticeable improvement over the 12 and 24 months of treatment. Patients, receiving risdiplam treatment, gained further points on the MFM scale. Improvement was also seen in the Hammersmith Functional Motor Scale (HFMS) and the Revised Upper Limb Module (RULM) scale for upper limb function. In addition, the effects of oral therapy were assessed using the SMAIS (SMA Independence Scale) questionnaire, concerning patients' subjective assessment of their degree of independence. This questionnaire is completed by the patients themselves, or in the case of younger children, less than 12 years old, by their caregivers. It is a scale developed by Roche to assess the level of assistance that patients with spinal muscular atrophy need to perform various daily activities. It turned out that with risdiplam treatment, patients required less and less help from caregivers and were able to perform more and more daily activities on their own. The increase in independence was already evident within the first 12 months of risdiplam treatment. The SUNFISH study also demonstrated the high safety of risdiplam - no significant treatment-related adverse events were observed during the study period.

New data shows long-term therapeutic benefits

In March of this year, new data covering 4 years of follow-up of patients participating in the SUNFISH study, taking the drug risdiplam, were presented. It turned out that the improvement in motor function from baseline observed in the first year of the study, as measured by the MFM-32 scale, was maintained until the fourth year of treatment. Such long-lasting stabilization, for patients with severely advanced SMA, is a major success. What's more, participants in the SUNFISH study continued to improve or stabilize after 4 years of treatment on the RULM scale (which assesses upper limb function) and improved on the SMAIS scale (which assesses patients' independence) - according to both patients and caregivers. Patients and their relatives noted that they were better at eating, drinking, washing themselves, combing their hair, brushing their teeth, fastening buttons or lifting various objects independently. During the four years of treatment, the rate of adverse events decreased, confirming the favorable safety profile of risdiplam in people with spinal muscular atrophy types 2 and 3.

Among the new results are data on patients' adherence to taking the drug. It turned out that they were very satisfactory - the average actual intake of the daily dose of the drug was nearly 99%, of which more than 98% of patients took more than 80% of the recommended doses of the drug. This means that adherence to oral therapy recommendations is not a problem for patients.

The drug risdiplam is currently approved in more than 90 countries around the world. It is successfully used by more than 8,500 people with SMA - from newborns to people over 60. As of September 2022, the drug is also reimbursed for Polish patients from 2 months of age who have contraindications to intrathecal treatment.

Source: press mat.