Below we have collated PHTS patient registries, clinical cohorts, and natural history studies that have been established globally.
Dr Marc Tischkowitz and his team at Cambridge University (UK) have recruited over 100 people to the UK PHTS registry collecting genetic, clinical, and family history information. The registry aims to improve our understanding of the natural history of PHTS, the current status of care, and to support improvements where needed. The registry will also be an important way to identify people who might be interested in volunteering to take part in future studies. This work is receiving funding from PTEN Research.
Dr Hande Kaymakçalan Çelebiler and colleagues from the Istanbul Bilim University (Turkey) have published data on the prevalence of PTEN mutations in Turkish children. This study was the first of its kind in Turkey and South-eastern Europe to investigate PTEN mutations in ASD and macrocephaly. Patients that were recruited are now part of a patient registry, PTEN Türkiye.
The initial work assessing the prevalence of PTEN mutations in the Turkish population received funding from PTEN Research (and may have received funding from other sources). The PTEN Türkiye registry (NCT06462430), mainly including paediatric participants, is funded by the NIH Rare Disease Clinical Research Network Developmental Synaptopathies Consortium (RDCRN DSC) and has not received funding from PTEN Research.
Dr Denise Adams at the Children’s Hospital of Philadelphia (US) together with collaborators from Boston Children’s Hospital (US), University of Utah (US), Radboud University (The Netherlands), Université Catholique de Louvain (Belgium), and La Paz Hospital (Spain) have undertaken a validation of the classification of vascular anomalies in PHTS using pathology and radiology data from US and European patient cohorts. This work, which is currently ongoing, is receiving funding from PTEN Research.
Prof Charis Eng’s team at the Cleveland Clinic (US) has been following a large cohort of individuals with PHTS or phenotypic features of PHTS to improve understanding of the molecular mechanisms underlying susceptibility to cancer development and other PHTS symptoms.
This ongoing natural history study is a collaborative effort between Boston Children’s Hospital, Cincinnati Children’s Hospital Medical Center, Cleveland Clinic, Stanford University and University of California at Los Angeles to learn more about the symptoms and characteristics of individuals with autism spectrum disorders and PTEN mutations. The study (NCT02461446) collects information from physical exams, medical history, assessments, questionnaires and, for a subset of participants, electroencephalogram measures. The study collects longitudinal data over the course of 2-4 years.The work is funded by the National Institutes of Health grant (U54NS092090) to the Developmental Synaptopathies Consortium with supplementary funding provided by PTEN Research for the year 2024-2025.
For further information and contact details, please see
The Spanish National Cancer Research Centre (CNIO) hosts a cohort of individuals with germline PTEN mutations. The cohort consists of DNA samples, derived from peripheral blood, and clinical information from approximately 50 individuals. Tissue samples are also available for some of them.
Dr Virginie Bubien and her team at the Insitut Bergonié, Comprehensive Cancer Center, have established an observational study (NCT05630105) which will involve approximately 430 PHTS patients. Patient medical history and events, including information regarding tumours, is acquired through an annual questionnaire.
Dr Cyril Mignot of APHP-Sorbonne Université (France) has established a study called COSEA, as part of the Ithaca European Reference Network, to recruit PHTS patients aged 0-18 years of age. The aim of this study is to assess phenotypes in PHTS from a young age, with a focus on neurodevelopmental issues.
The BNDMR is an epidemiological and public health tool that is funded by the 3rd National Plan for Rare Diseases (PNMR3). It consists of medical data acquired from patients with rare diseases, including PHTS, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRRS), and Proteus syndrome, across multiple qualified medical centres in France.
