JCA should not hamper access to transformative ATMPs
“The fact that the benefits from PKU treatment in childhood are ‘clear and immediate’ does not equate that there are no benefits for PKU treatment in adulthood” On June 28th PKU community celebrates International PKU Day. This year, E.S.PKU decided to raise awareness of adults with PKU by running a successful campaign “The Life of adults with PKU”. Throughout June on E.S.PKU social media various statements were published about the challenges of adults with Phenylketonuria. Since Phenylketonuria (PKU) is diagnosed in the early stages of life (nowadays in newborn screening), it has traditionally been perceived as a childhood disease. The …
‘You’re dead if you aim only at kids. Adults are kids grown up anyways.’[1] Every year, June 28th is celebrated in the PKU Community as it is International PKU Day. The popularity of this day is increasing every year. For 2024, the E.S.PKU has decided to use this day to raise awareness about the lives of adults with Phenylketonuria. In 2013 in Antwerp E.S.PKU delegates decided to initiate a day to raise awareness about Phenylketonuria. They decided that International PKU Day would be celebrated on June 28th every year. This day is also a celebration of the legacy of two …
International PKU Day: European Parliament Cross-Party Alliance on PKU and ESPKU jointly launch campaign to ensure all rare disease patients continue to benefit from future innovation Today, International PKU Day, marks the launch of an advocacy campaign to ensure that the foreseen revision of the EU Orphan Medicinal Products (OMP) Regulation will continue to benefit all people living with rare diseases, including Phenylketonuria (PKU). This campaign is led by the European Parliament Cross-Party Alliance on PKU and the European Society for Phenylketonuria (ESPKU)[1]. Prior to the existence of the OMP Regulation, only 8 medicinal products were available for patients living …
Dear ESPKU Member Organisations I hope you are all well, and , on behalf of the ESPKU Board , thank you all, for your tremendous support for Ukrainian PKU patients. The ESPKU has embarked on a project to assess the differences between care recommended in the European Guidelines on the treatment for PKU- and the reality in care delivered in European Countries. We wish to identify gaps between the two if they exist. The findings will be analysed, peer reviewed and published in a reputable scientific publication. We have developed a questionnaire for all PKU patients/carers to complete. The more responses …
In MemoriamProfessor Louis Isaac Woolf, BSc, PhD, University College London 24 April 1919 – 7 February 2021 Professor Louis Isaac Woolf died aged 101 on 7 February 2021 in Vancouver, Canada, from a heart condition. He is best known for developing his dietary treatment concept for phenylketonuria, PKU, based on a phenylalanine-depleted acid-treated milk protein. In the late 1940s, when he was a biochemistry Research Fellow at Great Ormond Street Hospital, GOSH, in London, he had been pondering on possible treatments for the ‘untreatable, incurable’ PKU children seen there. In what could now be considered translational research, a bridge between …
We are happy to share with you the full video of the first ever virtual E.S.PKU conference. 2020 was a special year forcing us to not host our physical meeting in Spain but rather to have an online event instead. While this is not closely what a physical meeting can offer we think that we had a very interesting and smooth first online conference. In case you have missed it when it streamed live – you have now the unique chance to revisit the complete conference on our YouTube channel. Please also don’t forget to subsribe to our YouTube channel …
Covid-19 is a serious infectious disease which can cause severe complications, including death. It is important that we do everything we can to prevent the spread of Covid-19 and a global vaccination programme is a crucial part of this. It is imperative that everyone with PKU who can participate in the Covid-19 vaccination programme should do so. REMEMBER, COVID-19 IS NOT LIKE FLU. IT IS MORE CONTAGIOUS, MORE DEADLY, AND IS SPREADING ACROSS A WORLD WHERE NO-ONE IS IMMUNE. If you do develop Covid-19, as with other infections, it is likely to cause high blood phenylalanine levels due to the …
SHEILA – UNLOCKING THE TREATMENT FOR PKU(Published by Brewin Books) By Anne Green In 1951, at two years of age, Sheila Jones was diagnosed with Phenylketonuria (PKU). With no treatment available, Sheila’s mother Mary persevered until she obtained help from three pioneering doctors at Birmingham Children’s Hospital. They worked tirelessly to prepare a special formula for Sheila making her the first person in the world to receive dietary treatment for PKU. In this new book to be published in October 2020 Anne tells the remarkable story of Sheila and her important legacy – the introduction of newborn screening and worldwide …
Authors: We are celebrating World Mental Health Day on 10 October. This provides a useful occasion to focus on the many aspects related to mental ill health – including how mental health can be a ‘hidden’ but important co-morbidity of other conditions which are normally not directly associated with mental ill health. Phenylketonuria (PKU) is such a condition. It is a rare, multi-faceted, complex and lifelong condition, with seriously challenging consequences for day-to-day living for those affected and their families and carers. It is usually regarded as a metabolic condition as, in essence, a particular liver enzyme (phenylalanine hydroxylase) is …
