Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy

• Main Authors: Sergio Muñoz (Author), Joan Bertolin (Author), Veronica Jimenez (Author), Maria Luisa Jaén (Author), Miquel Garcia (Author), Anna Pujol (Author), Laia Vilà (Author), Victor Sacristan (Author), Elena Barbon (Author), Giuseppe Ronzitti (Author), Jihad El Andari (Author), Warut Tulalamba (Author), Quang Hong Pham (Author), Jesus Ruberte (Author), Thierry VandenDriessche (Author), Marinee K. Chuah (Author), Dirk Grimm (Author), Federico Mingozzi (Author), Fatima Bosch (Author)
• Format: Book
• Published: Elsevier, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy with progressive muscle weakness. In the Infantile-Onset PD (IOPD), death generally occurs <1 year of age. There is no cure for...