EU CPA on PKU and ESPKU join to launch a new campaign

gregor.hammerschmidt Cross Party Alliance

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 …

E.S.PKU Patient Survey

gregor.hammerschmidt Announcements

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 …

Situation of refugee rare metabolic disorder patients (Updated)

gregor.hammerschmidt Announcements

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 …

The forgotten children

gregor.hammerschmidt Publications

A touching documentary by the German Association for Phenylketonuria and allied inherited disorders (DIG PKU) calls attention to the fate of late diagnosed and untreated patients Phenylketonuria (PKU) is a rare, inherited disorder of protein metabolism. Patients are unable to metabolise the amino acid phenylalanine. Early diagnosed by newborn screening and treated with a low protein diet and an  amino acid substitution, patients can develop normally and live their life to the full. In untreated patients, high phenylalanine-levels in the brain cause severe impairments to mental and physical development. Neurological abnormalities such as hyperactivity, aggressiveness and lack of concentration, fitting …

PKU Day Website launched

gregor.hammerschmidt Announcements

We are happy to announce the launch of the new website. PKU Day is coming up June 28th. For this year we have planned some special events and hope that everybody will take part in. Spreading the word about Phenylketonuria (PKU) is important. International PKU Day gives us the chance to promote PKU and make it known better. Please help by sharing the website and social media accounts of International PKU Day. The biggest event for this year will be the “Robert Guthrie Memorial Dinner”. Read all about it on the PKUDay Website.

Call for Papers

gregor.hammerschmidt Conferences

Dear professionals, We would like to announce that we created a form where you can upload your abstract for the E.S.PKU conference 2016 in Dublin, Ireland. You can view the submission form here: – Submission Closed -. Submissions will be forwarded to the Scientific Advisory Committee of E.S.PKU. You can find more information about this years conference on the dedicated conference page. Please take note of the deadline: August 20th – last day of call for papers! Also don’t forget to subscribe to the conference newsletter so you don’t miss out on important updates.   If you have questions, you can use …

E.S.PKU 2015 Conference Experiences

gregor.hammerschmidt Conferences

We are looking back at a very successful E.S.PKU conference 2015. As you might have seen there are quite a lot of official videos available for our conference 2015 in Berlin, Germany. If you haven’t seen them yet – or want to watch them again – they are all linked on our conference page. There you can also experience a lot more about the conference. But of course there aren’t just our conference experiences, but those of participants. We are happy that this year we had some attendees who brought along their own cameras, blogs, etc. to capture their experience with the …

Video source missing

European Phenylketonuria – PKU Guidelines

gregor.hammerschmidt Announcements, Publications

The European Guidelines for Phenylketonuria is one of the latest projects funded by E.S.PKU. The project was started after the publication of the consensus paper, written by delegates of E.S.PKU, showing the needs and wishes for guidelines. Under the lead of Professor Francjan J. van Spronsen and E.S.PKU SAC (scientific advisory committee) those independent PKU guidelines have been developed, with the help of about 20 professionals, experts in PKU, over the past three years. At the annual E.S.PKU conference 2015 in Berlin, Germany- excerpts from these guidelines were presented to the professionals as well as parents/patients. One of the main aims of the Guidelines is that they …

Passing of Ass. Prof. Flemming Güttler, M.D., Ph.D.

gregor.hammerschmidt General

We are mourning the passing of the former chairman of the ESPKU Scientific Advisory Committee Ass. Prof. Flemming Güttler, M.D., Ph.D. On December 30th 2015, Flemming Güttler passed away at the age of 81. Officers and members of ESPKU remember him being an active Chairman of the ESPKU Scientific Advisory Committee from 1988 until 2000. With his professional experience and his great personal commitment he helped ESPKU connect to professionals and patients from all over Europe and to make our Society well known and accepted in the scientific world. It was his passion to prevent the devastating outcomes of untreated …

E.S.PKU & PKUBoard present: PKU Travel Network

gregor.hammerschmidt Announcements

In the past E.S.PKU has been approached to set up a travel network for PKU patients. In order to achieve this goal we have partnered with PKUBoard1, an online messaging board. There are two reasons why E.S.PKU has decided to work together with PKUBoard on this matter: The E.S.PKU website is an information page and does not allow member registration Besides the conference E.S.PKU does not interact with patients directly, but offers an umbrella organization to it’s members (local organizations) The travel network has been introduced at the annual E.S.PKU Conference 2015 at the patients session. Here you can get the idea in …