Conferences
Adults’ experience of PKU clinic
There was a wide discrepancy in the services which UK adults received at their PKU appointments.
Conferences
Updates and latest research from PKU & brain injury conferences. Includes workshops, treatments, products and patient surveys. Phenylketonuria, low protein, concussion, post-concussion, brain bleed
Conferences
Rare Minds Workshop
The NSPKU contacted a mental health charity specialising in supporting those with rare diseases—Rare Minds.
Conferences
All of our voices, together
The fight for sapropterin means the NSPKU team now know a great deal about the licensing process. This bodes well for future campaigns. As does the experience, which shows that the advocacy of patients tipped the balance.
Advocacy
PKU United panel
One of the consistent highlights of NSPKU conferences over the years has been the patient panel. This year, the panel was called PKU United. Because we are stronger as a united community.
Conferences
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
#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).
News
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.
News
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?
News
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.
News
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...
News
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