Supporting research that will help develop treatments for PHTS
We fund scientific and medical research that we hope will result in the development of therapy options for adults and children with PHTS within the next 10 years. The pursuit of this goal should also lead to improvements in the care of people with PHTS.
This is a significant task but we are not starting at the beginning. 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 gained a great deal of knowledge about how these genes work in cells and tissues, which is helpful for those researching PHTS.
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 help us understand what would make the most difference to their lives.
Developing new medicines is a long and complicated process. It starts with research designed to understand exactly what causes the condition, so that medicine candidates which target the cause can be identified. It finishes with large scale clinical trials in people with the condition to show that a new medicine is effective and safe enough to be prescribed by doctors.
Find out more about how new medicines are developed here.
The research we fund covers this whole process. Supported projects include both the discovery of completely new potential medicines for PHTS, and finding out if existing medicines, already used to treat other conditions, might also help people with PHTS.
What types of research are funded?
Our current and planned research projects include:
These studies recruit volunteers with PHTS, and record both what happened in their past and then follow them up over time. The information collected is analysed to better understand how PHTS-related symptoms change over time in different people. These are sometimes described as natural history studies.
Find out here how one of our projects is studying cancer outcomes in a large group of people with PHTS
Find out here how another is studying people in the UK who have PHTS.
These laboratory-based studies research how alterations in the PTEN gene, together possibly with other factors, ultimately cause the wide range and combinations of symptoms and characteristics associated with PHTS. This improved understanding may help us to discover new medicines for PHTS. Find out here how one of our projects is sequencing the whole genome of hundreds of people with PHTS, to understand more about how DNA abnormalities beyond the PTEN gene alteration may be important in influencing different PHTS symptoms and characteristics.
Before potential PHTS medicines can be tested in people in clinical trials, researchers must first do research in the laboratory to show that they are likely to work and likely to be safe. To help with this, we are funding research to create cell-based and non-human-based “models” with PTEN gene alterations which mimic aspects of PHTS. These models are designed to have some of the specific biological characteristics seen in PHTS, such as, for example, features of developmental delay, blood vessel-related problems and cancer. Models like this can be used to test large numbers of potential medicines quite quickly to see if they might be able to treat PHTS. This way, researchers can then short-list candidate medicines for testing in people in clinical trials. Find out here about our policy on using animals in research.
On the same cellular pathway as that affected by the PTEN protein. Currently these medicines are intended to treat other conditions, including cancer. Using clinical trials and pre-clinical models of PHTS, we are funding research to see if these medicines might be re-purposed to treat PHTS. Find out here about the clinical trials that we are funding to test if two different existing medicines may be helpful to treat symptoms of colon polyposis and cognitive problems in people with PHTS.
To conduct clinical trials, in addition to having a potential new medicine to test, it is necessary to have established ways to measure whether or not a medicine is working. Therefore, we fund research projects to develop specific tools to measure the most significant symptoms and characteristics of PHTS, such as the cognitive problems seen in some children with PHTS, which persist into adulthood.
We are planning to fund initiatives designed to establish and share best practices in the ongoing management of PHTS. This includes supporting the development of management guidelines, and studies that monitor how they are being applied in clinical practice.
How are research projects chosen?
We invite researchers to send us proposals for PHTS research projects in two different ways:
They can send us proposals that match up with one or more parts of our general research priorities, as outlined above.
From time to time, we may request proposals on a specific research topic that we feel is important to prioritise. This second approach is referred to as “Targeted Calls”.
All research proposals are reviewed in detail by the Foundation, and in most cases by external experts in the field of the proposed research project. The proposals that are considered of outstanding value to the Foundation after this review are also evaluated by our Scientific Advisory Board, which includes experts in PHTS basic and clinical research, and in medicines development. Only the projects these experts feel meet our requirements will be recommended for funding. Ultimately, our Trustees, who are responsible for ensuring that PTEN Research charity funding is used responsibly, have the final say on what is funded and what is not.