Krabbe disease (KD) is an autosomal recessive lysosomal disorder that imposes defective myelination in the peripheral and central nervous systems. Twitcher combining bone marrow transplantation with AAVrh10-mGALC can have a great extension of life in the murine model of KD.

Mohammad Rafi (Persian: محمد رفیع ) obtained his PhD from University of Montpellier, France, in 1970. Investigating lysosomal storage diseases, he focused on gene therapy of neurodegenerative disorders using globoid cell leukodystrophy (Krabbe disease) animal models. With successful AAVrh10-mediated therapy in animal models, his research is moving towards human clinical trials.

Our results demonstrate that, it may be possible to treat human KD patients with high dose AAVrh10 without blood stem cell transplantation which would eliminate the side effects of HSCT.

Cutting viral dose in half or using BM cells from heterozygote mice in a combination of BMT and gene therapy treatments result in a similar reduction in lifespan of the treated mice.