CONTEXT: Good to see real world data alongside clinical trial data to reinforce the need to diagnose children with SMA early so that effective treatment can be given.
IMPACT: Medium
READ TIME: 5 mins
Quality Level Mean [1 – 10]: 8
1. “Emerging findings from the RESTORE registry – designed to provide real-world data for enhancing our understanding of patients cared for in routine practice – indicate older children (≥6 months) achieved a clinically meaningful benefit when treated with Zolgensma alone, after switching to gene therapy or in combination with another SMA therapy, with safety events consistent with the previously described safety profile.”
2. “According to Shephard Mpofu, M.D., SVP, Chief Medical Officer, Novartis Gene Therapies, “With more than 1,000 patients now treated, these data presented at MDA further reinforce what we’ve come to expect from Zolgensma – consistent, significant and clinically meaningful therapeutic benefit in SMA, including prolonged event-free survival, achievement of motor milestones unseen in natural history of the disease, and durability now more than five years post-dosing.””
3. “Of these, 45 (64 percent) had SMA Type (onasemnogene abeparvovec) is the only gene therapy for spinal muscular atrophy (SMA) and the only SMA treatment designed to directly address the genetic root cause of the disease by replacing the function of the missing or non-working SMN gene to halt disease progression through sustained SMN protein expression with a single, one-time IV infusion.”
4. “About Spinal Muscular Atrophy (SMA) . SMA is the leading genetic cause of infant death.4,5 If left untreated, SMA Type 1 leads to death or the need for permanent ventilation by the age of two in more than 90% of cases.1 SMA is a rare, genetic neuromuscular disease caused by a lack of a functional SMN1 gene, resulting in the rapid and irreversible loss of motor neurons, affecting muscle functions, including breathing, swallowing and basic movement.4 It is imperative to diagnose SMA and begin treatment, including proactive supportive care, as early as possible to halt irreversible motor neuron loss and disease progression.6 This is especially critical in SMA Type 1, where motor neuron degeneration starts before birth and escalates quickly.”
5. “Loss of motor neurons cannot be reversed, so SMA patients with symptoms at the time of treatment will likely require some supportive respiratory, nutritional and/or musculoskeletal care to maximize functional abilities.7 More than 30% of patients with SMA Type 2 will die by age 25.8. About Novartis Gene Therapies . Novartis Gene Therapies (formerly AveXis) is reimagining medicine to transform the lives of people living with rare genetic diseases.”