IN patients with spinal muscular atrophy (SMA) of Type 2 or 3, the improvements obtained thanks to the oral risdiplam therapy (approved in Italy for just one month) are maintained after a period of three years of treatment, and at the same time decrease the adverse effects . This is shown by new data from the Sunfish study presented at the Muscular Dystrophy Association (MDA) Clinical and Scientific Conference 2022, which confirm the long-term efficacy and safety of the drug in a large population of patients between 2 and 25 years old.
Sma, the first oral therapy at home approved
by Mara Magistroni
What is Sma and how does risdiplam work
Spinal muscular atrophy is a rare degenerative disease that weakens motor skills due to the progressive death of motor neurons, and mainly affects the lower limbs and respiratory muscles. In 95% of cases, it is caused by specific mutations in the SMN1 gene that produce insufficient levels of the Survival Motor Neuron (SMN) protein. Patients with SMA have a variable number of copies of a second gene, SMN2, and it is this copy number that determines the variability of the disease, with more or less severe forms. The drug risdiplam works by enhancing the activity of the SMN2 gene, to increase the levels of SMN protein at the central and peripheral level.
Based on the age of onset of the disease and the severity of symptoms, four forms of SMA are distinguished: the first is the most severe and affects about half of patients (the signs of the disease are visible already at birth or in the first months and the acquisition of motor skills, breathing and swallowing is impaired); the second and third are less severe forms (the onset of SMA2 occurs, approximately, between 6 and 18 months of life, while SMA3 appears after 12 months of life, usually between childhood and adolescence) ; finally, the fourth begins in adulthood and represents the less severe form.
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by Dario Rubino
The new results
To date, more than 5,000 people have been treated with risdiplam in clinical trials, within compassionate use programs or in real-world. “The goal of treatment is to empower people with SMA or to preserve their independence,” explains Laurent Servais, Professor of Pediatric Neuromuscular Disorders at MDUK Oxford Neuromuscular Center: “Patients in the SUNFISH study reported steady improvement or stabilization the level of assistance needed in daily life. The positive long-term efficacy and safety results achieved by risdiplam in a large population with SMA are important information for physicians. ” In fact, the increase in the Motor Function Measure-32 (MFM-32) score observed at the completion of the first year was maintained until the third year in people treated with risdiplam, as were the scores measured in other rating scales. Furthermore, for the first time, a comparative analysis of the two-year data was conducted with an untreated external control group, showing a marked improvement or stabilization of motor function thanks to risdiplam.
Sma, what patients ask (and don’t ask)
by Anna Lisa Bonfranceschi
The study in newborns
During the congress, updated data from another SMA study, RAINBOWFISH, involving pre-symptomatic infants less than two months of age, were also announced, demonstrating the safety and efficacy of risdiplam in infants. In January, the US Food and Drug Administration (FDA) granted the Priority Review of an additional application for authorization for the use of risdiplam in the treatment of these patients.