Take part in research

More research is essential if we are to improve our understanding of PHTS and develop better treatments. This can’t happen without the help of people with PHTS.

We don’t understand PHTS as a disease. There are a lot of things that make us feel, as researchers, that this is really bizarre, why is this happening? Whenever you read a PTEN paper there is always a single sentence which mentions ‘germline mutations in PTEN causes PHTS’ full stop, that’s it. It is about time that it gets more attention and people understand it a bit more.

Priyanka Tibarewal, University College London, UK
In Spain, we need research to transform the way PHTS is treated. At the moment, each autonomous region has its own healthcare policy, and in many PHTS is not considered a rare disease. Instead, the focus is on treating the symptoms – for instance if you develop cancer.

Maria Ercibengoa Arana, Biodonostia, Spain
It allows us to develop new treatments, use the ones we have better and provide information to people about how their disease is likely to progress.

Nick Leslie, Heriot-Watt University, UK
It allows us to uncover the underlying mechanisms that drive PHTS.

Maria Whitehead, PTEN Research, UK

A patient registry is a database containing clinical information, systematically collected, about people who share a condition. For rare diseases, it is an essential tool to increase knowledge and understanding of the condition. Data in the registry can be used to map a condition’s natural history (how it progresses) and answer epidemiological questions such as who and how many people have it. This kind of data is required to draw up national and international health policy and care guidelines, and can be used to convince pharmaceutical companies to invest in the condition.

Currently, a number of institutional and national PHTS registries exist, or are planned that people with PHTS can sign up to.

These include:

PTEN Hamartoma Tumour Syndrome Foundation Patient Powered Registry
Cleveland Clinic Registry

One of the best ways for people with PHTS to help is to participate in research. Patients are also our strongest ambassadors, and can help by spreading the word about the condition. Patients can also get involved in local efforts and financially support research so assets are available to pursue novel therapies.

Charis Eng, Cleveland Clinic
It is vital we work with the professionals in our area to give them the information they need to conduct their research. Without us, the information is invalid and unrepresentative of our condition! They may not always be able to find us so we need to look out for them!

Ellie Collins, PTEN UK & Ireland Patient Group
Joining patient groups and engaging with researchers. I have learned a lot from my meetings with patient groups because they give me insights into what it is like to live with PHTS.

Nick Leslie, Heriot-Watt University
Participating in research studies and fundraising for research and for education.

Antonio Hardan, Stanford University
Patients can help us see the little things that might add up to a bigger picture. We always say, ‘whenever you see anything out of the ordinary, make a note of it, tell your doctor’. We ask clinicians to record every symptom the patient has because, you never know, there might be a pattern and that might lead to the next breakthrough.

Priyanka Tibarewal, University College London
If you have PHTS, be your own advocate! Do your own research! Go to your doctor’s appointments armed with information – they will read it, research more themselves and thank you for the knowledge you have provided to them.

Ken Pincumbe, PHTS patient and advocate, USA

Research is important because...

In Spain, we need research to transform the way PHTS is treated. At the moment, each autonomous region has its own healthcare policy, and in many PHTS is not considered a rare disease. Instead, the focus is on treating the symptoms – for instance if you develop cancer.

It allows us to develop new treatments, use the ones we have better and provide information to people about how their disease is likely to progress.

It allows us to uncover the underlying mechanisms that drive PHTS.

Patients can help by...

It is vital we work with the professionals in our area to give them the information they need to conduct their research. Without us, the information is invalid and unrepresentative of our condition! They may not always be able to find us so we need to look out for them!

Joining patient groups and engaging with researchers. I have learned a lot from my meetings with patient groups because they give me insights into what it is like to live with PHTS.

Participating in research studies and fundraising for research and for education.

If you have PHTS, be your own advocate! Do your own research! Go to your doctor’s appointments armed with information – they will read it, research more themselves and thank you for the knowledge you have provided to them.

Get Involved