Supplementary Materials

Supplementary Material for:

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase

Francesco Puzzo, Pasqualina Colella, Maria G. Biferi, Deeksha Bali, Nicole K. Paulk, Patrice Vidal, Fanny Collaud, Marcelo Simon-Sola, Severine Charles, Romain Hardet, Christian Leborgne, Amine Meliani, Mathilde Cohen-Tannoudji, Stephanie Astord, Bernard Gjata, Pauline Sellier, Laetitia van Wittenberghe, Alban Vignaud, Florence Boisgerault, Martine Barkats, Pascal Laforet, Mark A. Kay, Dwight D. Koeberl, Giuseppe Ronzitti,* Federico Mingozzi*

*Corresponding author. Email: gronzitti{at}genethon.fr (G.R.); fmingozzi{at}genethon.fr (F.M.)

Published 29 November 2017, Sci. Transl. Med. 9, eaam6375 (2017)
DOI: 10.1126/scitranslmed.aam6375

This PDF file includes:

  • Materials and Methods
  • Fig. S1. Human GAA transgene engineering.
  • Fig. S2. Selection of engineered human GAA transgenes in vitro and in vivo.
  • Fig. S3. GAA activity and liver vector transduction in vivo.
  • Fig. S4. Histological evaluation of hearth, diaphragm, and quadriceps of treated Gaa−/− mice and controls.
  • Fig. S5. GAA uptake and autophagic buildup in quadriceps of Pompe mice.
  • Fig. S6. Quantification of lysosomal GAA in brain of mouse model of Pompe disease.
  • Fig. S7. Anti-human GAA transgene humoral immune responses in Gaa−/− mice.
  • Fig. S8. Weight of treated Gaa−/− mice and controls.
  • Fig. S9. Baseline measurements in Gaa−/− mice and controls.
  • Fig. S10. Long-term outcome of gene therapy in treated Gaa−/− mice and controls.
  • Fig. S11. Liver transduction of NHPs treated with AAV8 encoding for the engineered sp7-Δ8-coGAA transgene.
  • Table S1. GAA activity and glycogen content in Pompe mice 3 months after treatment at a vector dose of 5 × 1011 vg/kg.
  • Table S2. GAA activity and glycogen content in Pompe mice 3 months after treatment at a vector dose of 2 × 1012 vg/kg.
  • Table S3. GAA activity and glycogen content in Pompe mice 10 months after treatment at a vector dose of 2 × 1012 vg/kg.
  • Table S4. Long-term outcome of respiratory functions after gene therapy in treated Gaa−/− mice and controls.
  • References (6569)

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