Novartis' latest clinical results of SMA gene therapy announced to improve multiple indicators in children

On March 14, 2022, Novartis announced updated data from a clinical trial of Zolgensma (onasemnogene abeparvovec)

Spinal muscular atrophy (SMA) is a rare, inherited neuromuscular disease and a leading genetic cause of infant mortality

Zolgensma loaded a transgene that normally expresses the SMN protein into an AAV9 viral vector and modified the transgene to increase its ability to generate the SMN protein

This open-label, single-arm, multicenter Phase 3 clinical trial was designed to evaluate the safety and efficacy of a single intravenous infusion of Zolgensma prior to onset of symptoms in patients with SMA with 2 or 3 copies of SMN2, in patients aged ≤6 week

Final results for the cohort of patients with 3 copies (n=15):

100% of patients (15/15) achieved the primary endpoint of unassisted standing for ≥3 seconds by 24 months of age, and 14 of them reached this milestone within the World Health Organization (WHO) normal developmental window

Fourteen patients (93%) achieved independent walking, 11 of whom achieved this milestone within the WHO normal developmental window

All patients (100%) were independent of nutritional and respiratory support during the trial

All patients experienced at least one adverse event (AE) after dosing, of which 8 (53%) were considered treatment-related

In addition, a post hoc analysis descriptively evaluated pooled data from one phase 1 and two phase 3 clinical trials to assess medullary function in children with symptomatic type 1 SMA following Zolgensma treatment, including those aged <6 months at the time of Zolgensma treatment.

References:

[1] Novartis data again demonstrate age-appropriate development when Zolgensma is used presymptomatically, and post-hoc data reveal SMA Type 1 patients could speak, swallow and maintain airway protection.

(Original abridged)