PKU Day June 28 help research & raise awareness of Phenylketonuria

PKU Day is a chance for this rare disease community to raise awareness of this inherited metabolic condition, Phenylketonuria (PKU). June 28th was chosen as it marks the birthday of two important figures in the history of PKU.

In the 1950s, Dr Horst Bickel helped to develop a treatment for PKU. In 1960, Dr Robert Guthrie developed a simple, accurate test for national screening. Both of these developments drastically improved the diagnosis and treatment of those born with PKU.

Help PKU research — now!

The recent NSPKU conference shone a spotlight on new research, and clinical trials in the UK, which you can support for PKU Day 2024.

Sepiapterin trials, children only

Sepiapterin is a drug similar to sapropterin (Kuvan), but which works in a slightly different way. This means it is likely to be effective for more people with PKU — you can read more about sepiapterin here.

There are currently trials on sepiapterin in the UK, in both London and Birmingham. However, these trials are all on children only. I do not know why, and am keen to discover how such age discrimination is allowed to exist.

If you would like to learn more, ask your clinic about possible trials near you. I suggest asking even if you are an adult with PKU. We need to establish a demand for trials regardless of age.

Sapropterin (Kuvan) survey

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.

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.

Quality of life survey

This research survey is asking about the lived experiences of eating behaviours on the restricted diet therapy, psychological wellbeing, and support needs in adults with PKU.

The research is run by Michelle Marchant from the University of the West of England, Bristol. The survey is here, and the results will be anonymised. It took me about 20 minutes to do a good rant…

https://uwe.eu.qualtrics.com/jfe/form/SV_9NBaiwYzcEvXsGy

Sport, exercise, and physical activity in PKU

Back to Birmingham for a research project run by Annie Skidmore, & Lewis Gough, Associate Professor in Nutrition and Physiology, of Birmingham City University.

The research project has three aims:

To identify perspectives of quality of life and participation rates in physical activity and exercise behaviours in PKU patients.
To explore perspectives on physical activity, exercise, and nutrition habits differ among PKU adults, caregivers, industry, and clinicians.
Also, to understand barriers and facilitators for patients with PKU to perform exercise.

The study consists of three parts: an online survey looking at physical activity and exercise participation, a second quick survey about quality of life, and then an in-person focus group.

You have the option to take part in as little or as much as you wish

Participation survey: https://app.onlinesurveys.jisc.ac.uk/s/bcu/pku-survey

Quality of life survey: https://app.onlinesurveys.jisc.ac.uk/s/bcu/who-quality-of-life-survey

Raise awareness this PKUDay2024

Whether you chose to participate in some active research, fundraise for charities, or tell just one more person about PKU — I hope you have a super PKU day on June 28, 2024.