Researchers from the Yale University School of Medicine have developed a novel murine model of Gaucher disease type I with the aim to investigate the impact of GBA1 deficiency on hematopoiesis and the immune system, in order to elucidate potential therapeutic targets.
Freeline Therapeutics plc is being taken private by its founding investor and majority shareholder Syncona Ltd, in an all-cash transaction that values the Nasdaq-listed gene therapy specialist at $28.3 million. Syncona also will provide up to $15 million cash to keep Freeline afloat as it awaits the next tranche of data on its lead program FLT-201, which is positioned as a one-off treatment for the lysosomal storage disorder, Gaucher’s disease.
Parkinson’s disease (PD) is one of the most common neurodegenerative diseases, and the role of ?-synuclein accumulation and the subsequent death of dopaminergic neurons in the midbrain have long been recognized as key steps in the disease. Progress in understanding genetic risk factors, meanwhile, has uncovered multiple genetic risk factors. Even though aging is the single biggest risk factor for PD, there are versions of the disorder that affect children.
Collectively, lysosomal storage disorders (LSDs) are caused by malfunctions in metabolic enzymes in the lysosome system. Depending on which enzyme is missing, toxic metabolites accumulate. While the LSDs are highly heterogenous – even within one disease, presentation can vary widely – neurodegeneration is a common feature in these disorders.
Collectively, lysosomal storage disorders (LSDs) are caused by malfunctions in metabolic enzymes in the lysosome system. Depending on which enzyme is missing, toxic metabolites accumulate. While the LSDs are highly heterogenous – even within one disease, presentation can vary widely – neurodegeneration is a common feature in these disorders.
Despite two recent clinical trial failures, Orphazyme A/S’s arimoclomol is still on track for its June 17 PDUFA date in treating Niemann-Pick disease type C. The newest stumble is in the pivotal study of arimoclomol for treating amyotrophic lateral sclerosis (ALS) as it failed to hit its primary and secondary endpoints.
Avrobio Inc. said Feb. 8 that the first person dosed with AVR-RD-01, an investigational ex vivo lentiviral gene therapy from its upgraded manufacturing platform, Plato, experienced a complete clearance of the toxic substrate lyso-Gb3 in a kidney biopsy.
Parkinson’s disease (PD) is a neurodegenerative disorder. But not just. And it may not start that way.
There is increasing evidence that a-synuclein, the protein whose aggregates eventually destroy midbrain dopaminergic neurons in PD (and that are the cause of other diseases collectively known as the synucleinopathies), first aggregates “in enteric neurons, the neurons that control gastrointestinal function,” Collin Challis told BioWorld.
