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

• DOI: 10.1056/evidoa2200052
• Publication Date: 2022-06-06T15:00:12Z
• Authors: Nicola Brunetti-P...; Rita Ferla; Virginia Maria Gi...; Alessandro Rossi; Simona Fecarotta; Roberta Romano; Giancarlo Parenti; Yilmaz Yildiz; Stefano Zancan; Valentina Pecorella; Margherita Dell’Anno; Mafalda Graziano; Marialuisa Alliegro; Generoso Andria; Francesca Santamaria; Raffaella Brunett...; Francesca Simonelli; Vincenzo Nigro; Maria Vargas; Giuseppe Servillo; Francesco Borgia; Ernesto Soscia; Marco Gargaro; Silvia Funghini; Novella Tedesco; Pierre Romain Le ...; Charles A. Rupar; Chitra Prasad; Mar O’Callaghan; John J. Mitchell; Olivier Danos; Jean-Brice Marteau; Stefania Galimberti; Maria Grazia Vals...; Philippe Veron; Federico Mingozzi; Francesca Fallarino; Giancarlo la Marca; H. Serap Sivri; Alberto Auricchio
• Keywords: 0301 basic medicine; 03 medical and health sciences; gene therapy, MPS VI

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.