Our central goal is to support the development of therapies for PHTS, with an initial focus on treatment options for non-malignant symptoms (Goal 1) that are clinically tractable and have a clear unmet need. Our ongoing clinical and pre-clinical work is centred on repurposing existing drugs that target the PI3K/AKT/mTOR signalling pathway. In addition, we are also exploring do novo drug discovery to build a pipeline of future opportunities for clinical development.
Longer term we will expand our focus to improving management and potential prevention of cancer in PHTS (Goal 2), including potential enhancements to cancer surveillance, consideration of ‘second hits’ in malignant disease, and the identification of potential biomarkers that may ultimately be used to diagnose or monitor for malignant disease.
Critical to enable these goals are:
Improved understanding of PHTS: A better understanding of the biology of PTEN and how mutations to the PTEN gene impact the pathobiology of PHTS is critical for guiding our future scientific strategy. In addition we are focusing on establishing pre-clinical models of PHTS, creating clinical datasets, and developing clinical outcome measures to support clinical development of potential therapeutics.
Partnerships: Also important is developing partnerships with and between the range of organisations and groups required to support the discovery, development and licensing of potential PHTS therapies, including PHTS and PTEN experts, rare disease organisations, patients and patient advocacy groups, contract research organisations, regulatory authorities, payers and pharmaceutical and biotechnology companies.
Sustainable Foundation: In order to progress towards achieving our long-term goals, we undertake careful stewardship of resources and conduct iterative reviews of priorities in light of emerging data. To support the longer-term ambitions of the Foundation, we will leverage potential income generation opportunities, such as shared intellectual property, where appropriate, from the research that we fund.