First winner of the Sheila Jones Award

Laura Petreuș is the first winner of the Sheila Jones Award. An patient advocate award launched by the E.S.PKU in 2017. You can learn more about the award on our dedicated page: Sheila Jones Award. Be sure to check back at a later time to view the award ceremony that took place at #ESPKU2018. Laura Petreuș – Winner 2018Seila Jones Award

Addressing the high burden and significant unmet needs in Phenylketonuria (PKU)

Read this executive summary and download the full report. Download the full report This Policy Roundtable, organised by the European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (ESPKU), was hosted by MEPs Deirdre Clune (Ireland, EPP) and Nessa Childers (Ireland, S&D). Objectives to have an informed discussion on phenylketonuria (PKU) and its impact;to support understanding of the true nature of the condition;to identify the unmet needs in the area of PKU;to gather expert opinions on what can still be done to advance the interests of people living with PKU;to generate political momentum. Potential areas of action, arising from …

ESPKU calls for new born screening for every new born worldwide!

At the occasion of International #PKUDay 2018, ESPKU calls to implement and maintain newborn screening for all newborns around the world! E.S.PKU delegates call for new born screening worldwide 1) Agata Bak, Spain2) Duncan Noble-Nesbitt, United Kingdom3) Sanja Peric, Croatia4) Kate Hall (ISNS), UK 5) Laura Momme, Denmark6) Malgorzata Henek, Poland7) Paul van Berkel, The Netherlands8) Tobias S. Hagedorn, Germany

Pegvaliase (PalynzigTM) has been approved

Fresh from the Press: Pegvaliase (now called PalynzigTM) has been approved by the FDA for use in adult PKU patients in the USA with phenylalanine > 600 micromol/l. Francjan J van Spronsen, Maria Gizewska, Anita MacDonald, Kirsten Ahring Why is a different treatment needed? ‘You are not lucky when you have PKU’ I explained to a colleague. He replied “Why? What you’ve always told me is that when left untreated, patients with PKU have severe developmental disability, epilepsy, and difficult behavioural issues. Now they lead an almost normal life by following a diet. This does not seem too bad a …

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Announcing: Sheila Jones Award

E.S.PKU is very happy to announce the launch of the “Sheila Jones Award”. It’s the first time there is a patient advocate award in the field of PKU and it will be presented at this years annual E.S.PKU conference. If you are interested to learn more about the award and how to submit your entry follow this link: Sheila Jones Award Watch this video for a brief introduction to the award: Sheila Jones Award Annoucement

PKUDay 2018

International PKU Day is taking place on June 28th. This year once again marks a special year for this important day for Phenylketonuria.  It’s time to celebrate 100th birthday of Horst Bickel. As one of the grounding farther for the PKU diet the E.S.PKU has published the report “The three landmarks of phenylketonuria” once again. You can find it on the official PKUDay website: https://www.pkuday.org/about/pku-day-2018/. Of course you are very keen to learn more about your plans for International PKU Day. Getting it online on the PKUDay website will increase the attention for it – it’s easy – just contact the …

Application deadline for hosting the 2018 ESPKU Annual Conference expired (Updated)

Following the decision of the 2017 ESPKU General Meeting in Hell (Norway), the ESPKU legal members had the opportunity to apply for hosting the 2018 ESPKU Annual Conference until October 31st, 2017. Several applications and proposals have been submitted and will now be evaluated by the ESPKU Executive Board. The final decision will be announced before December 1st, 2017. After careful deliberation the ESPKU Board have awarded the 2018 Conference to Italy. Further details on location and date to follow

Situation of refugee rare metabolic disorder patients (Updated)

According to UNHCR data, currently there are more than 65.000.000 people fleeing from war, conflicts and persecution, as much as never before in history. About 20.000.000 people left their native countries and seek shelter abroad, most of them in Europe. It is a matter of fact that there are a significant number of people amongst these refugees, who suffer from any diagnosed or even undiagnosed rare disease, such as Phenylketonuria (PKU) or other treatable metabolic disorders. All signatory states of the Convention of the United Nations on the rights of persons with disabilities are committed “to take all necessary measures …

European PKU Guidelines Published

With their benchmark report in 2012, the European patient organization E.S.PKU has identified significant inconsistencies in PKU treatment and access to care in Europe, and called for uniform guidelines. Coordinated by the Chairman of the Scientific Advisory Committee of the E.S.PKU, since then a group of renowned metabolic experts independently developed 70 statements based on available evidence and taking into account nearly 500 scientific publications. Prof. van Spronsen stated: “Remaining within national frameworks is now outdated practice.” At the beginning of 2017 the ten key statements of the European guidelines were already published in Lancet Diabetes, Endocrinology and Metabolism. With …