Publications by authors named "F Hefti"
Article Synopsis
- GRN mutations lead to a condition known as FTD-GRN, which causes frontotemporal dementia; PR006 is a new gene therapy aimed at delivering the granulin gene using an adeno-associated virus.
- In initial studies, PR006 showed effectiveness in improving various pathological conditions related to FTD-GRN in animal models and was generally well tolerated in non-human primates.
- An ongoing human trial has reported that PR006 was safe for administration with some transient increases in progranulin levels in cerebrospinal fluid, although some patients experienced treatment-related adverse events, such as CSF pleocytosis and deep vein thrombosis.
Human genetic studies as well as studies in animal models indicate that lysosomal dysfunction plays a key role in the pathogenesis of Parkinson's disease. Among the lysosomal genes involved, GBA1 has the largest impact on Parkinson's disease risk. Deficiency in the GBA1 encoded enzyme glucocerebrosidase (GCase) leads to the accumulation of the GCase glycolipid substrates glucosylceramide and glucosylsphingosine and ultimately results in toxicity and inflammation and negatively affect many clinical aspects of Parkinson's disease, including disease risk, the severity of presentation, age of onset, and likelihood of progression to dementia.
View Article and Find Full Text PDFThe engineered fusion protein NPT088 targets amyloid in vitro and in animal models of Alzheimer's disease. Previous studies showed that NPT088 treatment reduced β-amyloid plaque and tau aggregate loads in mouse disease models. Here, we present the results from an initial clinical study of NPT088 in patients with mild to moderate Alzheimer's disease.
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