Gene therapy of animal models of lysosomal storage diseases

Leader of the workpackage is Andrea Ballabio from the Telethon Institute of Genetics and Medicine (Naples, Italy).

This workpackage will focus on state-of-the-art gene transfer technologies for treatment of systemic signs in animal models of Gaucher and Pompe diseases as well as of Mucopolysaccharidosis VI (MPS VI) and Multiple Sulfatase Deficiency (MSD).

We selected these disease targets because:

1. They are common LSDs (Gaucher and Pompe).
2. Involvement of non-CNS sites is the sole or most important feature of the disease (Gaucher, MPS VI and Pompe).
3. The disease models are extremely severe and therefore the therapeutic success is both highly desirable and paradigmatic for other types of LSDs (MSD).

As gene transfer strategies we propose to pursue:

1. Ex vivo modification of autologous hematopoietic stem cells (HSC) for type I Gaucher.
2. In vivo gene transfer to tissues like liver and muscle using adeno-associated viral (AAV) vectors for Pompe, MPS VI and MSD.