GM1 gangliosidosis, or Landing disease, is a rare inherited neurodegenerative lysosomal storage disorder characterized by severe cognitive and motor developmental delays resulting in the death of most patients at a very young age. It is caused by mutations in the GLB1 gene, which encodes an enzyme called beta-galactosidase necessary for the recycling of a molecule (GM1-ganglioside) in neurons. This brain lipid is indispensable for normal function, but its overabundance causes neurodegeneration, resulting in severe neurological symptoms. GM1 gangliosidosis affects 1 in 100,000 - 200,000 newborns and is inherited in an autosomal recessive pattern. GM1 gangliosidosis can be classified into three major clinical phenotypes according to the age of onset and severity of symptoms: Type I (infantile), Type II (late infantile/juvenile) and Type III (adult). There is currently no treatment.
In collaboration with the University of Massachusetts Medical School (UMMS) and Auburn University (AU), Lysogene is developing IND-supporting preclinical studies using AAV gene therapy technology to translate the initial proof of concept into a viable drug development program to the benefit of patients in urgent need. More information on our GM1 gangliosidosis program.
A recording of the presentations is available:
Lysogene organised the first-ever scientific workshop focused solely on GM-1 gangliosidosis (GM1) research for families and others with an interest in the disorder. Cynthia Tifft, M.D., Ph.D., Director of the Pediatric Undiagnosed Diseases Program at the National Human Genome Research Institute/NIH, a preeminent GM-1 research scientist and clinician, chaired the workshop on Saturday, April 9, 2016. It was held in conjunction with the National Tay-Sachs and Allied Diseases Association (NTSAD) 38th Annual Family Conference in Orlando, Florida and in collaboration with the Cure GM1 Foundation.