Click here to close now.

Welcome!

News Feed Item

European Society for Phenylketonuria calls for Minimum Standard of Care Across Europe

ALTER, Belgium, January 20, 2014 /PRNewswire/ --

- First ever pan-European perspective on optimal care identifies key challenges in this rare genetic disease

The first ever pan-European patient/carer perspective on optimal care of the rare genetic disorder phenylketonuria (PKU) has been published in the Orphanet Journal of Rare Diseases. This paper, supported by the European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU), underpins significant deficiencies and inequalities in medical and social care, and psychological support of those with PKU. It also makes the case for action to be taken to improve the detection and management of the condition on a number of fronts, including:

  • Mandatory, universal screening for PKU in newborns
  • Equal access to treatment and monitoring of the condition throughout Europe
  • Agreeing new standards of best practice
  • Establishing European Centres of Expertise
  • Reimbursing all aspects of treatment
  • Specific interventions for high-risk groups
  • Increasing the number of available healthcare professionals where required and elevating the status of dietitians
  • Access for patients to multi-disciplinary teams
  • Training for carers to provide more comprehensive social support for people with PKU

     (Logo: http://photos.prnewswire.com/prnh/20140117/663799 )

The paper was been developed by consensus of a working group led by Tobias S Hagedorn, Executive Board member of the E.S.PKU and Chairman of the German PKU Society (Deutsche Interessengemeinschaft für Phenylketonurie und verwandte Stoffwechselstörungen DIG PKU), following a multi-national stakeholder workshop involving representatives from 15 different countries, and of the findings from a benchmark report previously developed by the E.S.PKU and presented at the European Parliament in February 2012.

Eric Lange, President of E.S.PKU said: "The publication of this consensus paper is a significant milestone in the collective effort to improve the treatment and management of PKU in Europe. It represents the most far-reaching attempt to date to capture the views of patients, professionals and advocates, providing a blueprint for universally supported guidance for clinical practice. Despite the availability of accurate screening techniques, dietary management protocols and effective treatments, PKU management remains under-resourced with unacceptable variations in care across a number of countries."

It is now hoped that European healthcare professionals will develop evidence-based guidelines for use in clinical practice based on the principles set out in the consensus paper. EU policy makers will also be briefed on the importance of taking a comprehensive, standardised approach to the management of the condition across the region.

The paper is an open access publication and freely available here: http://www.ojrd.com/content/8/1/191. Development of the paper was supported by an unrestricted grant from Merck Serono, a division of Merck KGaA, Darmstadt, Germany, with no influence on any content.

About Phenylketonuria (PKU)

PKU is a rare inherited disorder that affects around one in every 10,000 children born in Europe, with significant variations between countries. People with PKU have a deficient liver enzyme, making them unable to break down an amino acid found in food, called phenylalanine. Consequently, levels of this amino acid build up in the blood eventually causing damage to the brain and nervous system. PKU can be managed by life-long adherence to a special diet. In children, PKU, if left unmanaged, can cause irreversible brain damage resulting in decreased IQ, executive function deficits and mental retardation. The condition can also lead to slow reaction times, poor concentration, poor memory and emotional issues including depression, anxiety and irritability.

About E.S.PKU

The European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU), established in 1987, is the umbrella organisation of around 30 national and regional associations from 28 countries. It represents the interests of people with PKU and those who care for them across Europe, supporting its members through EU advocacy work and engagement with the clinical community. The E.S.PKU itself is composed of a six-member Executive Board as well as a Scientific Advisory Committee, which keeps the board informed about the latest scientific developments on PKU. For more information, please visit: http://www.espku.org

For press enquiries, please contact:
Tobias S. Hagedorn
Secretary E.S.PKU
Wilhelm-Mellies-Strasse 10
D-32120 Hiddenhausen
Germany
E-mail: [email protected]
Phone: +49-5221-122066 (It is best to contact Mr Hagedorn between 8 p.m. and 9 p.m. CET)

More Stories By PR Newswire

Copyright © 2007 PR Newswire. All rights reserved. Republication or redistribution of PRNewswire content is expressly prohibited without the prior written consent of PRNewswire. PRNewswire shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon.

Latest Stories
The 5th International DevOps Summit, co-located with 17th International Cloud Expo – being held November 3-5, 2015, at the Santa Clara Convention Center in Santa Clara, CA – announces that its Call for Papers is open. Born out of proven success in agile development, cloud computing, and process automation, DevOps is a macro trend you cannot afford to miss. From showcase success stories from early adopters and web-scale businesses, DevOps is expanding to organizations of all sizes, including the ...
DevOps Summit, taking place Nov 3-5, 2015, at the Santa Clara Convention Center in Santa Clara, CA, is co-located with 17th Cloud Expo and will feature technical sessions from a rock star conference faculty and the leading industry players in the world. The widespread success of cloud computing is driving the DevOps revolution in enterprise IT. Now as never before, development teams must communicate and collaborate in a dynamic, 24/7/365 environment. There is no time to wait for long development...
IT data is typically silo'd by the various tools in place. Unifying all the log, metric and event data in one analytics platform stops finger pointing and provides the end-to-end correlation. Logs, metrics and custom event data can be joined to tell the holistic story of your software and operations. For example, users can correlate code deploys to system performance to application error codes. In his session at DevOps Summit, Michael Demmer, VP of Engineering at Jut, will discuss how this can...
"Plutora provides release and testing environment capabilities to the enterprise," explained Dalibor Siroky, Director and Co-founder of Plutora, in this SYS-CON.tv interview at @DevOpsSummit, held June 9-11, 2015, at the Javits Center in New York City.
The 17th International Cloud Expo has announced that its Call for Papers is open. 17th International Cloud Expo, to be held November 3-5, 2015, at the Santa Clara Convention Center in Santa Clara, CA, brings together Cloud Computing, APM, APIs, Microservices, Security, Big Data, Internet of Things, DevOps and WebRTC to one location. With cloud computing driving a higher percentage of enterprise IT budgets every year, it becomes increasingly important to plant your flag in this fast-expanding bu...
"AgilData is the next generation of dbShards. It just adds a whole bunch more functionality to improve the developer experience," noted Dan Lynn, CEO of AgilData, in this SYS-CON.tv interview at 16th Cloud Expo, held June 9-11, 2015, at the Javits Center in New York City.
The basic integration architecture, as defined by ESBs, hasn’t changed for more than a decade. Most cloud integration providers still rely on an ESB architecture and their proprietary connectors. As a result, enterprise integration projects suffer from constraints of availability and reliability of these connectors that are not re-usable across other integration vendors. However, the rapid adoption of APIs and almost ubiquitous availability of APIs amongst most SaaS and Cloud applications are ra...
SYS-CON Events announced today that Secure Infrastructure & Services will exhibit at SYS-CON's 17th International Cloud Expo®, which will take place on November 3–5, 2015, at the Santa Clara Convention Center in Santa Clara, CA. Secure Infrastructure & Services (SIAS) is a managed services provider of cloud computing solutions for the IBM Power Systems market. The company helps mid-market firms built on IBM hardware platforms to deploy new levels of reliable and cost-effective computing and hig...
The most often asked question post-DevOps introduction is: “How do I get started?” There’s plenty of information on why DevOps is valid and important, but many managers still struggle with simple basics for how to initiate a DevOps program in their business. They struggle with issues related to current organizational inertia, the lack of experience on Continuous Integration/Delivery, understanding where DevOps will affect revenue and budget, etc. In their session at DevOps Summit, JP Morgenthal...
"We help to transform an organization and their operations and make them more efficient, more agile, and more nimble to move into the cloud or to move between cloud providers and create an agnostic tool set," noted Jeremy Steinert, DevOps Services Practice Lead at WSM International, in this SYS-CON.tv interview at @DevOpsSummit, held June 9-11, 2015, at the Javits Center in New York City.
The time is ripe for high speed resilient software defined storage solutions with unlimited scalability. ISS has been working with the leading open source projects and developed a commercial high performance solution that is able to grow forever without performance limitations. In his session at Cloud Expo, Alex Gorbachev, President of Intelligent Systems Services Inc., shared foundation principles of Ceph architecture, as well as the design to deliver this storage to traditional SAN storage co...
One of the hottest areas in cloud right now is DRaaS and related offerings. In his session at 16th Cloud Expo, Dale Levesque, Disaster Recovery Product Manager with Windstream's Cloud and Data Center Marketing team, will discuss the benefits of the cloud model, which far outweigh the traditional approach, and how enterprises need to ensure that their needs are properly being met.
17th Cloud Expo, taking place Nov 3-5, 2015, at the Santa Clara Convention Center in Santa Clara, CA, will feature technical sessions from a rock star conference faculty and the leading industry players in the world. Cloud computing is now being embraced by a majority of enterprises of all sizes. Yesterday's debate about public vs. private has transformed into the reality of hybrid cloud: a recent survey shows that 74% of enterprises have a hybrid cloud strategy. Meanwhile, 94% of enterprises ar...
Overgrown applications have given way to modular applications, driven by the need to break larger problems into smaller problems. Similarly large monolithic development processes have been forced to be broken into smaller agile development cycles. Looking at trends in software development, microservices architectures meet the same demands. Additional benefits of microservices architectures are compartmentalization and a limited impact of service failure versus a complete software malfunction. ...
Discussions about cloud computing are evolving into discussions about enterprise IT in general. As enterprises increasingly migrate toward their own unique clouds, new issues such as the use of containers and microservices emerge to keep things interesting. In this Power Panel at 16th Cloud Expo, moderated by Conference Chair Roger Strukhoff, panelists addressed the state of cloud computing today, and what enterprise IT professionals need to know about how the latest topics and trends affect t...