Since its discovery in 1997, a vast amount of research has established PTEN as an important tumour suppressor gene, which is often lost or mutated in cancer. PTEN acts as a negative regulator of a pivotal cellular growth pathway that has been the focus of intense drug development by the pharmaceutical industry over the years. As a result, a number of drugs targeting the downstream effectors of PTEN are in development or, in some cases, have already been approved for the treatment of cancer or other diseases.
We believe that these drugs have high potential to also be useful in treating the various manifestations of PHTS.
Building on this existing knowledge, we are looking to identifying key pieces of medical research that will harness the potential of these drugs to be developed as a therapy for PHTS.
Given that PHTS is a rare syndrome, developing a targeted therapy requires the support of the clinical, research and patient communities. Therefore our strategy focuses on three areas:
- Funding medical research
- Building networks and strategic partnerships
- Increasing awareness and diagnosis
Funding medical research
Our grant funding is aimed at supporting academic research projects to increase the mechanistic understanding of the impact of PTEN mutations in the context of PHTS and to test treatments that will complement clinical research. We will also fund longitudinal studies, to increase the understanding of the natural history of PHTS.
We hope to enable clinical trials into PHTS to test drugs that have the potential to reverse the impact that a PTEN gene mutation has on the cells and tissues and thereby alleviate, reverse or prevent the manifestations of PHTS. We will prioritise drug candidates that have already been demonstrated to be safe in humans and have been, or are likely to be, approved.
We will also work with regulatory agencies to identify the best pathway to developing a therapy for PHTS.
Building networks and strategic partnerships
As PHTS is a rare disease, we are focused on promoting communication, information sharing and cross-fertilisation of ideas amongst clinical practitioners, researchers, and the pharmaceutical and biotech industries to accelerate progress.
We aim to facilitate the building of a cohesive community around PHTS, engaging the leaders of the community to think creatively about potential treatment paths. More specifically, we are looking to support the creation of national and international clinical and research networks. We aim to hold symposia that bring together researchers, clinicians, regulators, pharma, patients, and partners with the objective to share learnings and enhance collaboration.
Lastly, we believe partnerships with other rare disease organisations, that may have overlapping research interests, will be important in leveraging our joint resources.
Increasing awareness and diagnosis
Low awareness and lack of a correct PHTS diagnosis reduces an individual’s ability to seek appropriate screening and medical care.
Studies have estimated the incidence rate of PHTS to be 1:200,000. However, it is likely that the condition is underdiagnosed, largely due to lack of awareness. In particular, it is believed that there is a strong link with individuals with autism and macrocephaly.
We aim to increase global PHTS awareness and diagnosis levels by leveraging the networks described above to achieve our mission.