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Phenylketonuria (PKU) is still a challenge for clinicians and researchers. Dietary restriction of phenylalanine (Phe) remains the main therapy, with some patients being suitable for medical treatment with sapropterin. Today’s research is focusing on the pathophysiology of this disease, on its neurocognitive impact, on its appropriate management and on possible new therapies. Ongoing work by many scientists is leading towards the development of evidence-based European guidelines that will provide the best standard of care to all patients with PKU. This symposium will review the most important research achievements in this field, and provide a unique opportunity to share knowledge and best practice in the clinical management of PKU.
After attending this live educational symposium, learners will have up-to- date knowledge about the latest developments in research and clinical management of PKU, and will be able to:
EXCEMED (www.excemed.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 CME ‘2014 Annual Multidisciplinary European Phenylketonuria Symposium - PKU: a lifetime of challenges’ held on 6 – 7 June 2014 in Zagreb, Croatia, 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 recognised 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.
EXCEMED adheres to the principles of the Good CME Practice Group (gCMEp).
Friday 6 June
08.45 PKU in Croatia and southeastern European countries
Urh Grošelj, Slovenia, Vlado Sarnavka, Croatia
Session I New perspectives in therapy
Chairs: Alberto Burlina, Italy, Ivo Barić, Croatia
09.15 PEG-PAL: the latest evidence
Nicola Longo, USA
09.40 Pharmacological chaperones in PKU: where are we now?
Aurora Martinez, Norway
10.05 BH4 in children under 4 years
Harvey L. Levy, USA
Session II Brain function
Chairs: Julio Cesar Rocha, Portugal, Friedrich Trefz, Germany
11.25 L5 Brain function in children: the lower the Phe the better the outcomes
Rianne Jahja, The Netherlands
11.50 L6 Brain function and adolescence: foundation for adulthood
Maureen Cleary, UK
12.15 Optimal Phe concentrations in adults
Robin Lachmann, UK
12.40 L8 Nutritional changes and micronutrient supply with BH4
Skadi Beblo, Germany
Session III Oral communication
Chair: Francois Feillet, France
14.30 OC1 Prediction of phenotypes and BH4-responsiveness in phenylketonuria by linking data from genotypes and locus-specific database
Sarah Wettstein, Switzerland
14.45 OC2 Sapropterin dihydrochloride treatment in under 4 years of age Turkish hyperphenylalaninemic patients
Serap Sivri, Turkey
15.00 OC3 Comparing PKU patients with and without BH4 treatment: blood prolactin and serotonin concentrations
Danique van Vliet, The Netherlands
15.15 OC4 Cholinergic alterations are caused by hyperphenylalaninemia in rat brain
Patrícia Fernanda Schuck, Brazil
15.30 OC5 Three girls with microcephaly and hyperphenylalaninemia
Serap Sivri, Turkey
15.45 BH4 responsiveness: Ege University experience
Sema Kalkan Uçar, Turkey
Session IV Parallel workshops
16.30 Workshop 1: Maternal PKU - Interactive clinical case presentations
Friedrich Trefz, Germany
Louise Robertson, UK
16.30 Workshop 2: European and USA guidelines - controversies
Francjan van Spronsen, The Netherlands
Alberto Burlina, Italy
Nicola Longo, USA
16.30 Workshop 3: Diet plus sapropterin in clinical practice - Interactive clinical case presentations
Amaya Belanger-Quintana, Spain
Margreet van Rijn, The Netherlands
Saturday, 7 June
Session V From basic knowledge to daily management
Chairs: Hulya Gokmen-Ozel, Turkey, Valentina Uroić, Croatia
08.35 L9 PKU mouse models: what do they tell us?
Beat Thöny, Switzerland
09.00 Oxidative stress: the evidence in PKU
Priscila Mazzola, The Netherlands
09.25 Feeding development and nutritional issues in PKU: latest research
Anita MacDonald, UK
09.50 Genes involved in early aging and cognitive loss: is PKU also at risk?
Andrea Pilotto, Germany
Session VI European guidelines
Chair: Francjan van Spronsen, The Netherlands
11.10 European guidelines statements: have your say
Annemiek van Wegberg, The Netherlands
Session VII Asbjørn Følling and PKU awards PKU Academy fellowship
Chairs: Amaya Bélanger-Quintana, Spain, Anita MacDonald, UK
12.10 Asbjørn Følling lecture and award
Friedrich Trefz, Germany
12.40 EXCEMED award for best oral communication in PKU
To be announced at the meeting
12.55 PKU Academy fellowship 2012: final results
Priscila Mazzola, The Netherlands
13.10 PKU Academy fellowship 2013: winner presentation
Patrícia Fernanda Schuck, Brazil
Ivo Barić
Department of Pediatrics
University Hospital Center Zagreb
Zagreb, Croatia
Amaya Bélanger Quintana
Unidad de Enfermedades Metabólicas
Servicio de Pediatría
Hospital Ramón y Caja
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
François Feillet
Centre de Référence des
Maladies Héréditaires du Métabolisme
Hôpital d’Enfants, CHU Brabois
Vandoeuvre les Nancy, France
Hulya Gokmen-Ozel
Department of Nutrition and Dietetics
Hacettepe University, Ankara, Turkey
Anita MacDonald
Dietetic Department
The Children's Hospital
Birmingham, UK
Júlio César Rocha
Center of Medical Genetics
Centro Hospitalar do Porto
Porto, Portugal
Friedrich K. Trefz
Children’s Hospital
Kreis Kliniken Reutlingen GmbH
Klinikum am Steinberg
School of Medicine
University of Tuebingen Reutlingen, Germany
Margreet van Rijn
Section of Metabolic Diseases
Beatrix Children's Hospital
University Medical Center Groningen
Groningen, The Netherlands
Francjan J. van Spronsen
Beatrix Childrens Hospital
University Medical Center of Groningen
Groningen, the Netherlands
Valentina Uroić
Department of Nutrition and Dietetics
University Hospital Centre Zagreb
Zagreb, Croatia
EXCEMED adheres to guidelines of the European Accreditation Council for Continuing Medical Education (EACCME) and all other professional organisations, as applicable, which state that programmes 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 programme (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 participants may form their own judgements, based on full disclosure of the facts.
Further, all opinions and recommendations presented during the programme and all programme-related materials neither imply an endorsement, nor a recommendation, on the part of EXCEMED. All presentations solely represent 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:
Ivo Barić No potential conflict of interest
Amaya Bélanger-Quintana Honoraria & consultation fees from Nutricia, Nestle, Merck Serono
Nenad Blau Grants and contracts from Merck Serono and BioMarin Pharmaceutical Inc
Alberto Burlina Member of a company advisory board: Merck Serono
Maureen Cleary Honoraria & consultation fees from: Merck Serono. Member of Merck-Serono advisory board
François Feillet Honoraria & consultation fees from: Merk Serono, Genzyme, BioMarin
Hulya Gokmen-Ozel Honoraria & consultation fees from Enep group
Urh Grošelj No potential conflict of interest
Rianne Jahja Honoraria & consultation fees for the MEMG in December 2013
Robin Lachmann No potential conflict of interest
Harvey L. Levy Grants and contracts from BioMarin Pharmaceutical Inc
Nicola Longo Grants and contracts from Biomarin Pharmaceutical Inc. (to the University of the Utah). Member of a company advisory board: Biomarin Pharmaceutical Inc
Anita MacDonald Grants and contracts from Nutricia, Vitaflo, Merck Serono
Aurora Martinez Grants from Novoseeds (NovoNordisk 2011-2014)
Priscila Mazzola No potential conflict of interest
Andrea Pilotto No potential conflict of interest
Louise Robertson No potential conflict of interest
Júlio César Rocha Member of the European Nutritionist expert panel in PW - Merk Serono
Vlado Sarnavka No potential conflict of interest
Beat Thöny No potential conflict of interest
Friedrich K. Trefz Honoraria & consultation fees from: Merk Serono
Valentina Uroić No potential conflict of interest
Margreet van Rijn Honoraria & consultation fees from: Danone, Nutircia, Merk Serono
Francjan J. van Spronsen Honoraria & consultation fees from: Merk Serono, Nutricia Grants and contracts from: Merk Serono, Nutricia
Annemiek van Wegberg No potential conflict of interestDisclosure of faculty relationships
The following faculty has 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 27/05/2014
Skadi Melanie Beblo
Patrícia Fernanda Schuck
