A lot is known about the underlying cause of the syndrome and it is thought that there is a good potential to find something that can alleviate or prevent the burden of the disease
Since the discovery of PTEN in 1997 as an important tumour suppressor, which is often lost or mutated in cancer. A vast amount of research has established PTEN as a pivotal regulator of cell growth and this has led to significant effort and investment by the pharmaceutical industry into targeting PTEN-controlled processes. 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 manifestations of PHTS.
Building on this existing knowledge, we are looking identify the key pieces of medical research which will harness the potential of these drugs to be developed as a therapy for PHTS.
Given that PHTS is very rare, developing a therapy requires the support of the community. Therefore our strategy focuses on three areas:
- funding medical research,
- building networks and strategic partnerships, and
- 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 on the natural history of PHTS.
We hope to enable clinical trials into PHTS which 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. For the clinical trials, drug candidates which have already been demonstrated to be safe in humans and have been or are likely to be approved will be prioritised.
We will also work with regulators to identify the best pathway to developing a therapy for PHTS.
Building networks and strategic partnerships
As this is a rare disease, the Foundation is 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
The Foundation aims to increase global PHTS awareness and diagnosis levels, leveraging the networks described above to achieve its mission.
Selected studies suggest that the incidence rate of PHTS is 1:200,000 individuals. 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, suggesting an incidence rate as high as 1:4500.
Low awareness and lack of diagnosis reduces an individual’s ability to seek appropriate screening and medical care.