Spinal muscular atrophy Type 1 (SMA1) is a devastating monogenic neurodegenerative disease where afflicted children never sit unassisted or achieve any other significant motor milestone. A natural history study of SMA1 reported that none achieved a CHOP-INTEND score of >40 by 6 months of age (one transient exception). This trial explored safety and efficacy of a single intravenous administration of gene therapy (AVXS-101) in SMA1. In this study, 15 patients with SMA1 confirmed by genetic testing (with 2xSMN2 copies) were enrolled; all patients had bi-allelic Exon 7 deletions of SMN1 and no SMN2 disease modifying mutation predictive of a milder phenotype.

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