Zafra-Puerta et al., Gene therapy for Lafora disease in the Epm2a ^-/- mouse model, Molecular Therapy (2024)

“Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model” (2023)

The publication is proof of concept that a Gys1-ASO therapy halts Lafora Disease progression of EPM2B mutations in mice.

“Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data” (2023)

Federica Pondrelli, Raffaella Minardi, Lorenzo Muccioli, Corrado Zenesini, Luca Vignatelli, Laura Licchetta, Barbara Mostacci, Paolo Tinuper, Craig W. Vander Kooi, Matthew S. Gentry, Francesca Bisulli

“Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders” (2023)

Dr. Jordi Duran published a review on how the accumulation of glycogen in astrocytes, glial cells in the central nervous system, contribute to Lafora disease and other neurodegenerative conditions.

“AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models” (2022)

Dr. Berge Minassian’s lab has developed and tested an AAV gene therapy for Lafora Disease to reduce glycogen synthesis and halt Lafora Body aggregation in mice. We are still a long way from being able to use gene therapy to treat Lafora Disease, however, this is an important step toward curing it for future generations.

“Malin restoration as proof of concept for gene therapy for Lafora disease” (2022)

This paper shows that restoring malin expression in a mouse model that lacks it can reduce Lafora Body accumulation and neuroinflammation. This proof-of-concept suggests that it would be beneficial to develop gene therapy for restoring malin expression in patients where malin is mutated or missing.

“Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease” (2022)

“Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora” (2021)

Dr. Jordi Duran from the Institute for Research in Biomedicine (IRB Barcelona) in Barcelona, Spain simplified his paper for the Lafora disease community to read. This paper discusses the accumulation of glycogen aggregates and understanding the role of the protein p62

“Scientists at IRB Barcelona discover the cause of neurodegeneration in Lafora disease” (2021)

One of the more horrifying impacts of Lafora Disease is the neurodegeneration that these children suffer. Families bear witness as their children suffer in frustration from their own cognitive decline. Researchers now understand the cause of this degeneration. As Dr. Jordi Duran explains in this article, “For years it was believed that the disease was caused by the accumulation of Lafora bodies only in neurons, but now we have shown that neurodegeneration is caused by accumulations in glial cells.”

Chelsea’s Hope is thrilled to thank Dr. Guinovart, Dr. Duran, and their entire staff of researchers for this great discovery. We also offer our sincere thanks to Dr. Matt Gentry and Dr. Jose Antonio del Rio for their important support and contributions to this discovery.

Chelsea’s Hope and all the Lafora families desperately hope for a cure for Lafora. Drs. Guinovart and Duran have gotten us a step closer.