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.
There are 2 main types of research in which people can volunteer to take part:
Also called non-interventional studies, natural history studies, or sometime registries, these studies look at the natural course of PHTS, and do not involve the use of any potential new medication. Some are “retrospective” which means they look backwards at the participant’s medical and treatment history prior to joining the study. Some are “prospective” which means they follow the participant’s medical progress over the coming months or years. Some are both. All usually require participants to allow researchers to access their medical records. They may also require the participant to provide samples, complete questionnaires and other assessments.
Listed below is information about and links to ongoing PHTS studies (as of June 2023), including both PTEN Research funded studies and others.
General PHTS studies
- The Clinicaltrials.gov website lists most clinical trials and many observational studies taking place around the world for many different conditions and investigational medications. The listings include information about participating research clinics, and contact details for more information.
- To find all listed PHTS studies that are looking for patient volunteers, you simply need to enter PHTS as the Condition in the Find a Study form, and select “Recruiting”.
- The PTEN Hamartoma Tumor Syndrome Foundation, a USA-based organisation founded by PHTS patients, has launched a "PTEN Patient powered registry and natural history study".
- PTEN Turkiye, a Turkey based organisation working with the Developmental Synapthopathies Consortium, has launched a Turkish PTEN registry (link in English, link in Turkish).
PTEN Research funded studies
The following studies are currently open to enrol people with PHTS:
- A clinical trial of Sirolimus for Cowden Syndrome with Colon Polyposis (USA) is recruiting participants.
- A UK based PHTS registry is looking for patient volunteers.
- The Development and Validation of an Online Neurobehavioral Evaluation Tool for PTEN Patients study is no longer open for new participants, but the follow-up stages of the study are still ongoing both in the US and UK for participants who have previously joined. This is an online study developing a new survey and performance measure for PTEN patients.
- The Natural History Study of Individuals with Autism and Germline Heterozygous PTEN Mutations is recruiting participants across several centres in the US.