Case study: Setting up a registry of patients with PHTS in the UK
Key facts
Lead researcher: Professor Marc Tischkowitz
Institution: University of Cambridge, UK
Type of research: Study of people with PHTS
What do we hope this research will tell us?
The rarity of PHTS and the diverse nature of the condition means that it can be difficult for doctors to recognise when people have the syndrome and to manage the complex range of clinical complications. As an example, checking for cancer, a common complication, is an important part of PHTS care but there are no reliable data on how well this is co-ordinated across the UK.
By compiling a national register (registry) of people in the UK who have been diagnosed with PHTS, and monitoring their clinical condition, treatment and management, Professor Tischkowitz and his team hope to improve 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 clinical trials of potential medicines for PHTS.
What does it involve?
Professor 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 clinician. The registry is open to both adults and children with PHTS.
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. Participants may also be asked to provide blood samples and, if a tumour biopsy takes place as part of their routine care, allow the research team to have a part of it to study.
The data collected will be analysed by the researchers to look for regional and national differences in resources, treatment approach and healthcare delivery
