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Phenylketonuria (PKU) is an active field of investigation, and new diagnostic and treatment options are emerging that may reduce the burden of a life-long and limiting dietary management for these patients, their families and the society.
Basic and clinical research is today focusing on brain metabolism in PKU patients and its repercussion on neurological functions, on a better clinical characterization by biochemical and genetic analysis, and also on developing new therapeutic strategies or implementing the use of those already available, such as diet and sapropterin dihydrochloride,
Furthermore, evidence-based international guidelines are being developed to provide standardization in PKU management, including appropriate biomolecular diagnosis, treatment’s choice, evaluation of response to therapy, and achievement of targeted blood phenylalanine levels, also considering the social and economical impact of this disease.
The European Phenylketonuria Group (EPG) together with Serono Symposia International Foundation (SSIF) consider essential to continue their series of successful meetings on PKU, and are organizing the 2013 annual symposium dedicated to that. Aims of this meeting are to review the most important achievements of research in the field of PKU and to provide participants with solutions for optimizing patient management in their daily clinical practice.
After attending the symposium, participants will better understand the importance of and will be able to improve their clinical practice on the following aspects of PKU:
Serono Symposia International Foundation (www.seronosymposia.org) is accredited by the European Accreditation Council for Continuing Medical Education (EACCME ® ) to provide the following CME activity for medical specialists. The EACCME ® is an institution of the European Union of Medical Specialists (UEMS), www.uems.net
The conference 5 th European Phenylketonuria Group (EPG) Symposium “Advances and Challenges in PKU” (15-16 March 2013 -Istanbul, Turkey) is designated for a maximum of 9 (nine) hours of European CME credits (ECMEC). Each medical specialist should claim only those credits that he/she actually spent in the educational activity. EACCME ® credits are recognized by the American
Medical Association (AMA) towards the Physician's Recognition Award (PRA). To convert EACCME ® credit to AMA PRA category 1 credit, please contact the AMA.
Learning Effectiveness Project
Serono Symposia International Foundation is conducting a Learning Effectiveness Project at meetings during 2013. The meeting ' 5th European Phenylketonuria Group Symposium 'Advances and Challenges in PKU' has been chosen to participate in this project.
Friday 15 March
Session 1 Advances in PKU research
Session chair: François Feillet (France)
09.00 Novel mechanisms of PKU brain pathology
Ehud Gazit (Israel)
09.30 L2: Importance of gene modifiers in PKU: what we can learn from other diseases?
Niels Gregersen (Denmark)
10.00 L3: Interallelic complementation in PKU
Ania C. Muntau (Germany)
Session II Free oral communications
11.15 OC1: Structure-function relationship of the pharmacological chaperone tetrahydrobiopterin stabilizing phenylalanine hydroxylase
Marta K. Danecka (Germany)
11.30 OC2: Man made disease: effects of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse model
Ben Pode-Shakked (Israel)
11.45 OC3: Living with PKU: quality of life and the effect of tetrahydrobiopterin (BH4): a prospective multicenter cohort study
Serwet Demirdas (The Netherlands)
12.00 OC4: Cost and time burden of living with phenylketonuria in the Netherlands
Serwet Demirdas (The Netherlands)
12.15 OC5: Testing neonatal BH4 responsiveness: treat first, diagnose later
Karen Anjema (The Netherlands)
12.30 OC6: Executive functioning and behaviour problems in adult phenylketonuria patients: preliminary results
Rianne Jahja (The Netherlands)
12.45 OC7: Long-term treatment with tetrahydrobiopterin in BH4-responsive PKU patients: effect on quality of life and cognitive function
Chiara Cazzorla (Italy)
13.00 OC8: Undiagnosed phenylketonuria in parents of phenylketonuria patients, is it worthy to be checked?
Arnaud Wiedemann-Fodé (France)
Session III Parallel workshop sessions
1. European guidelines for PKU
Francjan J. van Spronsen (The Netherlands)
François Maillot (France)
2. How to test executive function in PKU
Stephan Hujibregts (The Netherlands)
Jaime Campistol Plana (Spain)
3. Overweight in PKU
Anita MacDonald (UK)
Júlio César Rocha (Portugal)
Friedrich K. Trefz (Germany)
4. Pitfalls in the management of BH4 deficiencies
Nenad Blau (Germany/Switzerland)
Alberto Burlina (Italy)
Saturday 16 March
Session V Advances in PKU management
Session chair: Maureen Clearly (UK)
08.30 L4: Clinical trials with the PEG-PAL enzyme substitution
Cary O. Harding (USA)
09.00 L5: Novel chemical and pharmacological therapies for PKU
K. Michael Gibson (USA) View the presentation
09.30 L6: Neuropsychological assessment in PKU
Josef Weglage (Germany) View video lecture
10.00 L7: Metabolomics in patients with phenylketonuria
Uta Ceglarek (Germany) View video lecture
Amaya Bélanger Quintana
Unidad de Enfermedades Metabólicas
Servicio de Pediatría
Hospital Ramón y Cajal
Madrid, Spain
Nenad Blau
University Children's Hospitals
Heidelberg, Germany
and
Zürich, Switzerland
Alberto Burlina
Division of Metabolic diseases
Department of Pediatrics
University Hospital Padua
Padua, Italy
Maureen Clearly
Metabolic Office
Great Ormond Street Hospital
NHS Trust
London, UK
Mübeccel Demirkol
Children's Hospital
Istanbul Faculty of Medicine
Istanbul University
Istanbul, Turkey
François Feillet
Centre de Référence des
Maladies Héréditaires du Métabolisme
Hôpital d’Enfants, CHU Brabois
Vandoeuvre les Nancy, France
Maria Giżewska
Department of Pediatrics,
Endocrinology, Diabetology,
Metabolic Diseases and Cardiology
Pomeranian Medical University Szczecin
Szczecin, Poland
Anita MacDonald
Dietetic Department
The Children's Hospital
Birmingham, UK
Ania Muntau
Department of Molecular Pediatrics
Dr von Hauner Children's Hospital
Ludwig-Maximilians-University
Munich, Germany
Friedrich K. Trefz
Children’s Hospital
Kreis Kliniken Reutlingen GmbH
Klinikum am Steinberg
School of Medicine University of Tuebingen
Reutlingen, Germany
Francjan J. van Spronsen
Beatrix Childrens Hospital
University Medical Center of Groningen
Groningen, The Netherlands
Serono Symposia International Foundation adheres to guidelines of the European Accreditation Council for Continuing Medical Education (EACCME) and all other professional organizations, as applicable, which state that programs awarding continuing education credits must be balanced, independent, objective, and scientifically rigorous. Investigative and other uses for pharmaceutical agents, medical devices, and other products (other than those uses indicated in approved product labeling/package insert for the product) may be presented in the program (which may reflect clinical experience, the professional literature or other clinical sources known to the presenter). We ask all presenters to provide participants with information about relationships with pharmaceutical or medical equipment companies that may have relevance to their lectures. This policy is not intended to exclude faculty who have relationships with such companies; it is only intended to inform participants of any potential conflicts so that participants may form their own judgements, based on full disclosure of the facts. Further, all opinions and recommendations presented during the program and all program-related materials neither imply an endorsement nor a recommendation on the part of Serono Symposia International Foundation. All presentations represent solely the independent views of the presenters/authors.
The following faculty provided information regarding significant commercial relationships and/or discussions of investigational or non-EMEA/FDA approved (off-label) uses of drugs:
Amaya Belanger-Quintana Declared no potential conflict of interest.
Nenad Blau Declared to be member of Merck Serono Germany advisory board.
Alberto Burlina Declared to be member of the SAB Kamper Study.
Jaime Campistol Plana Declared no potential conflict of interest.
Chiara Cazzorla Declared no potential conflict of interest.
Uta Ceglarek Declared no potential conflict of interest.
Maureen Clearly Declared receipt of honoraria or consultation fees related to the EPG Committee work and to be member of the EPG Group.
Turgay Coskun Declared no potential conflict of interest.
Serwet Demirdas Declared no potential conflict of interest.
Mübeccel Demirkol Declared no potential conflict of interest.
François Feillet Declared receipt of honoraria or consultation fees from Merck Serono and Nutricia and to be member of Merck Serono, Shire and Nutricia advisory boards.
Ehud Gazit Declared no potential conflict of interest.
K. Michael Gibson Declared no potential conflict of interest.
Niels Gregersen Declared no potential conflict of interest.
Cary O. Harding Declared receipt of grants and contracts, honoraria or consultation fees from BioMarin Corp. Novato, CA and that his presentation will include discussion on off-labeled or otherwise non-approved uses of products, i.e. progress on clinical trials of an investigational drug.
Stephan Huijbregts Declared receipt of grants and contracts from NutsOhra Foundation, PKU Research Foundation, European Society for PKU (ESPKU) and of honoraria or consultation fees from Merck Serono S.A.
Anita MacDonald Declared receipt of grants and contracts, of honoraria or consultation fees from Nutricia, Vitaflo and Merck Serono and to be member of Vitaflo and Merck Serono advisory boards.
Ania C. Muntau Declared receipt of grants and contracts from Merck Serono and Vitaflo, of honoraria or consultation fees from Merck Serono and to be member of Merck Serono advisory board.
Júlio César Rocha Declared to be member of the European Nutritionist Expert Panel in PKU of Merck Serono.
Francjan J. van Spronsen Declared receipt of grants and contracts, honoraria or consultation fees from Merck Serono and Nutricia, to be member of Merck Serono and Nutricia advisory boards and that his presentation will include discussion on off-labeled or otherwise non-approved uses of products.
Ursula Wachtel Declared no potential conflict of interest.
Josef Weglage Declared no potential conflict of interest.
The following faculty have provided no information regarding significant relationship with commercial supporters and/or discussion of investigational or non-EMEA/FDA approved (off-label) uses of drugs as of 28 February 2013.
Karen Anjema
Maria Gizewska
Rianne Jahja
François Maillot
Priscila Mazzola
Ben Pode-Shakked
D.D. Reiss
Friedrich K. Trefz
Arnaud Wiedemann-Fodé
