Our strategy

The problem

PHTS is a lifelong condition characterised by a diverse array of symptoms, including an increased risk of cancer. People with PHTS are monitored closely and their symptoms are managed when they arise. However, there are no therapies that are specifically designed to treat the symptoms of PHTS and no therapies that can prevent symptoms from developing in the first place. In other words, there are no targeted therapies for PHTS.

PHTS is a rare condition. This means that it is not completely understood, and it has not received the same amount of focus that more common diseases get. For example, it is still not clear how PHTS progresses over the course of an individual’s life or how many people have the condition.

  • I’m excited about the opportunity to harness existing knowledge of PTEN and PHTS to create lasting change for everyone affected by PTEN mutations.

    Maria Whitehead, Director of Research

The opportunity

Our aim is to fund research that will lead to new and better treatments for PHTS. We hope to develop therapies with the potential to transform people’s lives within the next ten years. The pursuit of this goal will also lead to improvements in the care of people with PHTS.

This is a bold ambition, but we are not starting from scratch.

Although PHTS is not well understood, a lot is known about the PTEN gene itself. This is because, as well as being involved in PHTS, PTEN and other genes like it are often altered in cancers that spontaneously arise. Since the discovery of PTEN 20 years ago, scientists have amassed a wealth of knowledge about how these genes work in cells and tissues.

As well as drawing on existing knowledge about how PTEN works, we can also draw on existing knowledge about PHTS. People directly affected by PHTS are experts on the condition and can help us understand what would make the most difference to their lives.

Although more research is needed, research already conducted by scientists around the world and clinical data already gathered about patients means we are building on an established foundation of scientific knowledge.

How we’ll get there

We recognise how complex a condition PHTS is, how incremental the progress in research can be and how challenging it is to develop a new therapy. We aren’t expecting any quick fixes - but we are optimistic that we can play a part in making life better for people with PHTS.

  • The research we fund will be directed by what the science tells us, but it will be guided by people with PHTS together with advice from the most qualified experts and conducted in partnership with the wider PHTS research community.

    Siobhain McCullagh, Director of Programme Management

We are committed to being transparent about what we are doing so we have outlined our current thinking below. Click on the Why and How buttons for more information.

Over the next ten years, we want to...

Improve understanding of PHTS

The development of an effective treatment requires a good understanding of the syndrome. We need to know basic things such as how many people have PHTS, how it progresses over time and what an individual’s risk is of developing the different symptoms over their lifetime. Clinical data from people with PHTS stored in patient registries is needed to answer these questions. Clinical data is normally gathered by medically trained professionals. This information is key for improving the diagnosis and management of PHTS. It will also be needed to judge the effectiveness of any therapy developed to treat symptoms of PHTS.

Improve outcomes for people with PHTS who develop cancer

For most people with PHTS, the increased risk of cancer is the most anxiety-provoking aspect of the diagnosis. Addressing this is an important long-term goal for us. However, within the next ten years, our aim is to improve the way cancer is diagnosed and managed in PHTS so that people can lead healthier and happier lives.  

Develop therapies to treat the non-cancerous symptoms of PHTS

Developing a therapy is a big task. To maximise our chances of success, we will explore a number of avenues, including investigating: 

Whether existing drugs can be used to treat symptoms of PHTS

Thanks to twenty years of research into the PTEN gene, we know that a molecular sequence of events in the cell called the ‘PI3K pathway’ is often disrupted when PTEN doesn’t function properly. A class of drugs called rapalogs have already been developed that target this particular molecular sequence. Given our understanding of the molecular biology of PHTS, we think that these drugs may have the potential to relieve some symptoms of PHTS.

Whether there are new drugs that could help

As well as rapalogs, there may be other ways to target the disrupted PI3K pathway that may be developed into drugs.   

Whether we need to develop new drugs and a new approach

Although twenty years of research suggests that the PI3K pathway is a good starting point, it may be that a treatment for PHTS won’t come from targeting this pathway. To increase our chances of success, alongside our PI3K work, we will also look elsewhere.

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