Supporting PHTS clinical care and research infrastructure in the UK

Introduction

Enhancing clinical care and expanding research infrastructure are key pillars to improve quality of life and patient outcomes in rare diseases.

Patient registries are an important resource in rare diseases as they provide longitudinal, real-world data that help define natural history, characterise phenotypic variability, support identification of clinically meaningful endpoints, facilitate clinical trials, and generate evidence that can inform clinical care and service.

In addition, the broad spectrum of associated manifestations, including an elevated risk of multiple malignancies, necessitates coordinated surveillance strategies. However, there is a lack of robust data evaluating the consistency and effectiveness of cancer surveillance pathways across the UK. Further, individuals and families with PHTS often have to manage appropriate cancer surveillance themselves, although examples exist of Centres of Excellence where families can experience coordinated care.

Another key aspect of supporting improved and equitable clinical care for individuals with PHTS is to ensure that healthcare professionals have a forum for sharing best practices and discuss clinical cases in the form of a virtual national multidisciplinary team (MDT).

To enhance opportunities for research as well as improved, coordinated and evidence-based care for people with PHTS, PTEN Research is supporting the UK PHTS registry and UK PHTS MDT.

Project 1 goals

The main goal of the PHTS National Registry is to identify and monitor symptoms of individuals with PHTS. The identification of well-characterised cohort of individuals with PHTS will enable the collection of high-quality clinical data that will allow clinicians and researchers all over the world to better understand the condition.

Project 1 overview

Prof Marc Tischkowitz and his team at Cambridge University (UK) have to date recruited over 150 people to the UK PHTS registry collecting genetic, clinical, and family history information.

Clinicians are encouraged to signpost patients with a constitutional PTEN variant to the registry. Participation in the registry does not require travel or in-person visits as information is collected from the participant’s local hospital or via post, email and telephone.

For further information, please see PHTS registry website or contact add-tr.phts@nhs.net.

The UK PHTS Registry collaborates closely with the National PHTS MDT led by Dr Katherine Lachlan (see below) and is supporting participant recruitment to ongoing and upcoming research studies, including the study Researching Early Cancer by quantifying ClonE dynamics in individuals with PTEN variants (RECCE-PTEN).

Project 2 goals

The aim of this grant is to develop a national co-ordinated network supporting PHTS care and research in the UK. This includes expansion of the newly established PHTS national virtual MDT, which builds on the existing Rare Disease Collaborative Network (RDCN) for PHTS, also led by Dr Katherine Lachlan. 

Project 2 overview

The MDT will facilitate the review of clinical cases and formulation of care recommendations by physicians with expertise in the management of the diverse manifestations associated with PHTS.

The project aims to create a digital tool for families and individuals with PHTS using the ‘My Medical Record’ platform developed by UHS Digital. The tool will contain alerts relating to cancer surveillance, as well as accessible resources families and their healthcare providers regarding PHTS.

In partnership with the Clinical Informatics Research Unit at the University of Southampton, a secure clinical database will be established to capture detailed phenotype data to better understand the diversity of symptoms in PHTS and to support future research.

Health care professionals can refer cases for MDT discussion at PTEN_RDCN@uhs.nhs.uk.

Project 2 anticipated outcomes

The project aims to bring together PHTS experts across the UK to discuss challenging cases and disseminate clinical guidelines, with the aim to standardise care for individuals across the UK with PHTS, irrespective of their geographical location.

It is hoped that the digital tool created as part of this project will support PHTS cancer surveillance compliance by making it easier for families to keep track of their cancer surveillance appointments and help them provide up-to-date information about PHTS to their clinical care team.

Longer term, it is hoped that the MDT will help build capacity for future PHTS research and trial readiness.