Supporting PHTS clinical care and research infrastructure in the UK

Introduction

Improving clinical care and being able to efficiently undertake research are two important aspects of improving life for people with rare diseases.

A UK national registry of people with a rare disease such as PHTS can help understand how the condition progresses over time, how symptoms vary from one individual to another and can also help prepare for future clinical trials as well as support improvement of clinical services.

Currently in the UK there are no reliable data on how well or consistently the complex care needs of people with PHTS are met, including how cancer surveillance (planned checks to look for cancer as early as possible) is undertaken. Further, many families have to organise these cancer surveillance appointments themselves, which can be stressful and time-consuming, although some specialist centres help coordinate all PHTS care which can make it easier to ensure that families receive the correct support.

In addition to the information that can be gained from the registry other approaches are important to help improve consistency of care. One such approach is to provide a forum for healthcare professionals from all over the UK caring for people with PHTS to share best practices and discuss the care of people with PHTS. This is called a multidisciplinary team (MDT).

To enhance opportunities for research and improve clinical care for people with PHTS in the UK, 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 data collected from people with PHTS agreeing to participate will allow clinicians and researchers all over the world to better understand the condition.

Project 1 overview

Prof Marc Tischkowitz is inviting individuals with PHTS from anywhere in the UK to join the registry. People may approach the team directly via the UK PHTS registry website, or may be invited to take part by their own doctor.  The registry is open to both adults and children with PHTS.

Currently over 150 people with PHTS have already joined the registry. Thank you to everyone who is supporting this important endeavour!

Once the individual or their parent/guardian has consented to participate in the registry, the researchers will collect historical and future medical, and other, information from their medical records. 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.

Project 2 goals

This project aims to improve care for people with PHTS across the UK. It will expand a national virtual MDT, which means a group of experienced specialists who can review cases together and agree on care recommendations, so that care is more consistent wherever a family lives.

Project 2 overview

The members of the MDT will be able to discuss the care of individuals with PHTS to ensure that people are cared for in the best and most consistent way across the country.

This project will also develop online materials to provide more information about PHTS, and a digital tool to remind families about cancer surveillance when it is due. 

Additionally, a secure database will be created to record the problems people with PHTS experience, to help doctors understand the condition better and improve future care. The project will work closely in collaboration with the UK PHTS Registry.