Research from Unipd brings new hope for two neurodegenerative diseases
13.01.2026
A preclinical study published in "Molecular Therapy" by the University of Padua offers new hope for the treatment of GM1 Gangliosidosis and Mucopolysaccharidosis type IV-B (Morquio B disease), both part of the Lysosomal Storage Disorders (LSD). These conditions are caused by the malfunction of lysosomes, cellular organelles that degrade waste materials. The deficiency of the enzyme beta-galactosidase leads to the accumulation of toxic substances, causing neurodegeneration and severe systemic symptoms.
"The research has successfully tested an advanced gene therapy strategy in the mouse model affected by GM1 Gangliosidosis," says Valentina Poletti, the study director from the Department of Women's and Children's Health at the University of Padua. "The approach is based on the autologous transplantation of genetically corrected haematopoietic stem cells, avoiding rejection issues and regenerating all blood and immune system cells, including brain microglial cells."
In the animal model, the corrected stem cells were reinfused into the bloodstream or directly into the central nervous system. "The results were significant: the missing enzyme was effectively produced, with a marked reduction in pathological signs, improved motor and coordination abilities, and prolonged lifespan of the treated animals," Poletti highlights.
"These data suggest a strong therapeutic potential of this gene therapy platform for Mucopolysaccharidosis IV-B as well, sharing the same enzymatic cause. The study represents an important preclinical step towards a potentially definitive cure for these severe diseases, currently lacking definitive therapies," concludes Poletti. Gene therapy with stem cells represents a research frontier aiming at a permanent correction of the cause of these rare and severe conditions.
