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Current innovative treatments for SMN1-related proximal spinal muscular atrophy in adults
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Prof. Cintas of the Toulouse Neuromuscular Reference Centre published in December 2022 a review of new therapies for SMN1-related proximal spinal muscular atrophy (SMA) in adults. It shows that :
- more than 80% of adults with SMA consider that a treatment that stabilises the evolution of their disease constitutes an important therapeutic advance.
- For nusinersen (Spinraza®), 61-75% of adults report improvement and only 2.5-25% deterioration, with persistent effects for more than one year. The treatment is well tolerated and the lack of a dose escalation study in adults means that the approved treatment of 12mg per injection is the same for newborn babies as for adults; a study is underway to evaluate higher doses.
- For risdiplam (Evrisdy®), the SUNFISH trial, which involved participants aged 2 to 25 years, included only 14 participants aged 18 to 25 years, making interpretation of the results difficult. The approval of risdiplam for all types of SMA, including adults, should provide more real-life data on the safety and efficacy of this compound in adults.
- for the onasemnogenic abeparvovec (Zolgensma®) gene therapy, reserved for the youngest patients, the dose necessary for the treatment of children over 21 kg and a fortiori adults would expose to too strong allergic reactions
- For salbutamol, a randomised placebo-controlled trial in participants aged 25 to 53 years confirms increased inclusion of exonPartie codante de l’ADN au sein d’un gène. 7 in SMN2 with an improvement in the 6-minute walk test by 30 metres at one year. Salbutamol is approved for SMA on a compassionate access basis (CAA).
- For reldesemtiv, a fast troponin activator, a phase IIAu cours d’un essai clinique de phase II, un médicament, dont il a été montré au préalable qu’il était bien toléré (au cours d’un essai de phase I) est administré à un groupe de malades dans le but de déterminer l’efficacité thérapeutique, les doses optimales et la sécurité du traitement (Quel est le mode d’administration et la dose maximale tolérée ?). La phase II peut être divisée en deux étapes : la phase IIa étudie le dosage et la phase IIb l’efficacité du traitement. trial in people with a mean age of 29.4 years showed encouraging results. Further studies are needed to confirm the value of this compound in SMA.