Spinal Muscular Atrophy: Single-Dose Gene-Replacement Therapy

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The results were encouraging. As of the data cutoff on August 7, 2017, all 15 patients were alive and event-free at 20 months of age, as compared with a rate of survival of 8% in a historical cohort. In the high-dose cohort, a rapid increase from baseline in the score on the CHOP INTEND scale followed gene delivery, with an increase of 9.8 points at 1 month and 15.4 points at 3 months, as compared with a decline in this score in a historical cohort. Of the 12 patients who had received the high dose, 11 sat unassisted, 9 rolled over, 11 fed orally and could speak, and 2 walked independently. Elevated serum aminotransferase levels occurred in 4 patients and were attenuated by prednisolone.

The researchers concluded that in patients with SMA1, a single intravenous infusion of adeno-associated viral vector containing DNA coding for SMN1 resulted in longer survival, superior achievement of motor milestones, and better motor function than in historical cohorts. However, further studies are still necessary to confirm the safety and efficacy of this type of gene therapy.

See here the design of the study in detail: ClinicalTrials.gov number, NCT02122952.)

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