Lived Experiences of Sapropterin
An NSPKU presentation on a forthcoming 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”.
Conferences
My notes from conferences and workshops
#PKUDay2024
Exciting new research and clinical trials in the UK, which you can support for PKU Day 2024. June 28 is a chance for this rare disease community to raise awareness of the inherited metabolic condition, Phenylketonuria (PKU).
Review of the EU Guidelines on PKU
The guidelines...help inform policy changes and establish the best treatment practices in places where those are still being developed, and to support those in areas where treatment falls short.
PKU News, June 2024
Update on sepiapterin and other groundbreaking treatments. A primer on the PKU injection treatment PegPal, AKA Pegvaliase or Palynziq. A new way to distribute treatments for Rare Disease?
PKU future treatment update
The NSPKU conference held from 17-19 May 2024 included an update on possible new treatments for PKU. These are my notes from the sessions on sepiapterin, mRNA, gene therapy, solute carrier 6, and options for PegPal.
PKU news May 2024
Looking for a massive online resource with recipe & product ideas, managing PKU and fitness, and honesty about living with PKU? Check out Tristan’s blog...
Starting the Conversation
We wanted a space where adults with PKU felt able to hold an open discussion about managing PKU, and to collect data about our concerns in real time.
What is LNAA?
Large Neutral Amino Acid (LNAA) treatment for PKU
This is a supplementary therapy for PKU which is in use in some European countries. It is particularly aimed at those with mild PKU
Campaign update at NSPKU2022.
Liz Twist MP spoke to the conference in her role as Chair of the All Party Parliamentary Group (APPG) for PKU. She began by extolling the difference which Sapropterin makes for those who respond, but she also acknowledged the need to work for those who do not respond.
Art and Music Therapy in a Pandemic
The use of music as a reabilitation tool alongside other therapies had never occurred to me. Elizabeth Nightingale, the Neurological Services lead at Chiltern Neuro and Medical services provided an introduction to this fascinating field.
