Lived Experiences of Sapropterin

The NSPKU conference, held from 17-19 May 2024, included several updates on forthcoming research. These are my notes from the session by Giana de Sousa, Lead Paediatric IMD dietitian, Nottingham & NIHR researcher.

Gina de Sousa, a Children’s Metabolic Dietitian and PhD researcher at the University of Nottingham, is gathering the views of healthcare service users and professionals regarding the UK roll out of sapropterin (Kuvan, BH4) treatment for PKU. This is in preparation for a study with the working title: SAPHIRE—Sapropterin Application for PKU Healthcare Insights in England research to guide our future

Gina presented at the NSPKU Conference in May, and I have included a selection of slides from her presentation below (apologies for the angle, it was a packed hall). She is planning a PhD “to collect information about the rollout and response testing for sapropterin treatment in England since its availability on the NHS for all ages in 2021”.

The researchers need your help.

Many readers will be familiar with the problems of the sapropterin rolls out. Gina noted that a key concern was the lack of formal training for staff. Further, many staff members were expected to do the rollout work on top of current workloads.

The research plan

The research impact

As Gina said, we need to be ready for the next new treatments. There are more details on the survey website, a Google form. There are 15 questions, and it should take about 10–15 minutes to complete. All responses will be strictly anonymous.

Please get involved, as Gina’s work will improve the system — and help us to be ready for the next new treatments.