Gaucher Disease is a genetic disorder in which a fatty substance called glucosylceramide accumulates in macrophages present in certain organs due to the lack of functional GCase. The disorder is hereditary and presents in various subtypes. Freeline is focused on Type 1 Gaucher Disease, which impacts the health of the spleen, liver, lungs and bones. The current standard of care is intravenous infusion of enzyme replacement therapy (ERT) every two weeks, which is a significant treatment burden on the patient. The aim of Freeline's investigational gene therapy programme is to deliver a one-time treatment of a long lasting gene therapy for Type 1 Gaucher Disease patients that will provide a consistent and therapeutically relevant level of endogenous GCase, thus eliminating the need for ERT.
Freeline’s preclinical data to be presented at EWGGD shows that a single infusion of FLT200 results in sustained GCase expression in the liver and greater bioavailability in the bloodstream as compared to ERT. Data collected from a combination of in vitro and in vivo experiments demonstrates that liver expression of GCase results in sustained blood levels of GCase and that the enzyme is taken up by the macrophages in target organs affected by Type 1 Gaucher Disease. FLT200 showed superior levels of GCase uptake in the target organs including spleen, liver, lungs and bone marrow compared tothe leading ERT, velaglucerase alfa (VPRIV®).
Professor Amit Nathwani, Founder and Chief Scientific Officer of Freeline and Professor at UCL Cancer Institute said:
“Freeline’s proprietary gene therapy platform has been used to generate these promising preclinical results for Gaucher Disease. We look forward to progressing the program into the clinic and hope to give patients whose lives are severely disrupted by Gaucher Disease the potential to live free of the effects of this disease.”
Chris Hollowood, Executive Chairman of Freeline said:
“We believe there is a significant opportunity for gene therapy to offer functional cures for a wide range of chronic diseases. Freeline’s technology has already shown clinical benefit to Haemophilia B patients and we look to leverage this same platform, for not just haemophilia, but also for lysosomal storage disorders (LSDs). Gaucher Disease is our second LSD program after Fabry and these preclinical Gaucher Disease data are very encouraging showing that we may be able to demonstrate a clear clinical benefit for these patients.”
Oral presentation details are as follows:
Presentation title: Liver-directed AAV gene therapy for Gaucher Disease results in sustained Gcase expression and greater bioavailability for macrophage uptake than velaglucerase alfa (n°3)
Presenter: Carlos Miranda
Date: Friday, 5 July, 2019 from 4:00 - 4:15 pm
Location: University Clermont Auvergne: The Faculty of Dentistry of Clermont - Ferrand: 2, rue de Braga - 63100 Clermont-Ferrand, France
- Ends -
+44 (0) 7818 430877
Freeline is a privately-held clinical-stage biotechnology company focused on AAV based gene therapy targeting the liver. Our vision is to create better lives for people suffering from chronic systemic diseases using the potential of gene therapy as a one-time curative treatment. Freeline is headquartered in the UK and has operations in Germany and the US.
About Gaucher Disease
Gaucher Disease is an inherited metabolic disorder, characterized by the build-up of glucocerebroside (GlcCer) in lysosomes throughout the body. It is caused by mutation of the GBA1 gene, which impairs the production of the enzyme glucocerebrosidase (GCase). Manifestations are variable and Gaucher Disease is divided into three subtypes, of which Freeline is targeting Type 1, the most common and non-neuronopathic form of the disease.
The condition ranges from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Current treatment consists of enzyme replacement therapy and substrate reduction therapy to reduce the load on the enzyme and the accumulation of glucocerebroside.