Another way to get involved with PHTS research is to seek out studies directly rather than finding out about them through a patient registry. You can find information about PHTS-related clinical trials at Clinicaltrials.gov, Orphanet and the EU Clinical Trials Register.
Bear in mind that all trials need to have ethical approval from a regulatory body before they can recruit participants and there will be inclusion criteria that participants have to meet. If it is a placebo-controlled trial, one group of participants will be given a treatment whereas the other group will be given a placebo, a treatment that is deliberately inactive. Some trials are designed so that the participants in the placebo group can receive the active treatment once the trial is finished.
Below is a list of the studies and clinical trials we are aware of that plan to include individuals with a PHTS or Cowden syndrome diagnosis. Other clinical trials, not listed here, may be relevant to people with PHTS or Cowden syndrome with specific symptoms e.g. cancer. This list is not intended as an endorsement by PTEN Research, or a recommendation to participate. If you are considering volunteering to take part in these or any other trial, you should contact your doctor to discuss your options.
What: A trial recruiting people aged between 5 and 45 years with a PTEN mutation and cognitive impairments. The main aim is to establish that everolimus is well-tolerated in this group but researchers are also looking for any improvements in cognitive functioning.
Who: Stanford University in California, Boston Children's Hospital in Massachusetts, Cleveland Clinic in Ohio, all in the US; partially funded by PTEN Research.
Status: Not currently recruiting
Travel bursaries: Yes
What: A natural history study in children and young people. The aim is to find out how autism spectrum disorder (ASD) progresses over time in people with a PTEN mutation, and whether it develops differently to people with ASD with macrocephaly (a large head) but without a PTEN mutation.
Who: University of California at Los Angeles, California; Stanford University in Palo Alto, California; Boston Children's Hospital in Boston, Massachusetts; Cleveland Clinic in Cleveland, Ohio, all in the US
What: People with symptoms associated with a PTEN mutation provide clinical information and a blood sample. This allows the team to calculate how common the different symptoms are and to explore the molecular mechanism underpinning PHTS.
Who: Cleveland Clinic in Ohio, US
What: A study investigating quality of life before and after a surgical procedure. People with Cowden syndrome and a PTEN mutation are among those eligible to take part.
Who: Hôpital Edouard Herriot in Lyon, France
Status: Not yet recruiting
Read more about different types of clinical trials.
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If you are a researcher and you would like us to post information about your study or trial here, get in touch at email@example.com, using ‘Clinical trial info’ as the subject line.
Patient groups provide support and practical advice, and raise awareness of the condition among doctors and the general public. The more members the groups have, the more notice others are going to take.
Here are some groups and blogs that we know about:
PTEN UK&I (UK and Ireland)
The PTEN Foundation (US)
PTEN World (US)
PTEN Italia (Italy)