Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI

NEJM Evid. 2022 Jul;1(7):EVIDoa2200052. doi: 10.1056/EVIDoa2200052. Epub 2022 Jun 6.

Abstract

Gene Therapy for Mucopolysaccharidosis Type VIIn this open-label gene therapy study, infusions for MPS type VI occurred without severe adverse events. In the high-dose cohort, serum active arylsulfatase B reached 30% to 100% of normal. A modest urinary GAG increase did not require reintroduction of enzyme replacement therapy. Clinical deterioration was not noted for up to 2 years after therapy.