FIRST SCIENTIFIC ANNOUNCEMENT

5th European Phenylketonuria Group (EPG) Symposium “Advances and Challenges in PKU” Istanbul, Turkey - 15-16 March 2013

5th European Phenylketonuria Group (EPG) Symposium “Advances and Challenges in PKU” Aims of the symposium Phenylketonuria (PKU) is an active field of rare diseases, and new diagnostic and treatment options are emerging that may reduce the burden of a life-long and restrictive disease 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 tests, 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.

Learning objectives 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: • Brain pathology in PKU • New chemical chaperons for PKU • Genetic modifiers and PKU • Diet with sapropterin therapy in PKU • Management of BH4 deficiencies • Assessment of executive function in PKU • Sapropterin in patients below 4 years old • Neuropsychological assessment in PKU • Enzyme substitution therapy for PKU • Development of EU guidelines • Equity and access to PKU care

Target audience Specialists in pediatric and adult inherited metabolic disorders, dietitians, nutritionists, clinical biochemists and genetists, basic scientists, psychologists, nurses and all health care professionals dealing with PKU.

Accreditation Serono Symposia International Foundation (www.seronosymposia.org) will submit this program 5th European Phenylketonuria Group (EPG) Symposium “Advances and Challenges in PKU” (15-16 March 2013 Istanbul, Turkey) for accreditation by the European Accreditation Council for Continuing Medical Education (EACCME®).

Scientific secretariat Serono Symposia International Foundation Salita di San Nicola da Tolentino, 1/b - 00187 Rome, Italy Senior Project Manager: Flaminia Masprone Specialist Medical Advisor: Davide Mineo Tel.: +39-06-420 413 206 - Fax: +39-06-420 413 677 E-mail: [email protected] Serono Symposia International Foundation is a Swiss Foundation with headquarters in 14, rue du Rhône, 1204 Geneva, Switzerland

Organizing secretariat Meridiano Congress International Via Sapri, 6 - 00185 Rome, Italy Congress Coordinator: Sara Guglielmini Tel.: +39 06 88595 211 - Fax: +39 06 88595 234 E-mail: [email protected]

All Serono Symposia International Foundation programs are organized solely to promote the exchange and dissemination of scientific and medical information. No forms of promotional activities are permitted. All Serono Symposia International Foundation programs are made possible thanks to educational grants received from: Arseus Medical, Celgene, Centre d’Esclerosi Multiple de Catalunya (Vall d'Hebron University Hospital), ComtecMed, Congrex Sweden, Congrex Switzerland, Cryo-Save, Datanalysis, Esaote, European Society of Endocrinology, Ferring NV, Fondazione Humanitas, Fundación IVI, GlaxoSmithKline Pharmaceuticals, Johnson & Johnson Medical, ISFP International Society for Fertility Preservation, ISMH International Society of Men’s Health, K.I.T.E., Karl Storz GmbH & Co. KG, Lumenis Ltd., Merck Serono, PregLem, Richard Wolf Endoscopie, Sanofi-Aventis, Stallergenes, Stopler, Teva Pharma Belgium, Toshiba Medical Systems Belgium, Université catholique de Louvain (UCL), University of Catania.

Symposium President Nenad Blau University Children's Hospitals Heidelberg, Germany and Zürich, Switzerland

Scientific Committee Amaya Bélanger Quintana Unidad de Enfermedades Metabólicas Servicio de Pediatría Hospital Ramón y Cajal Madrid, Spain

Maria Giżewska Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology Pomeranian Medical University Szczecin Szczecin, Poland

Nenad Blau University Children's Hospitals Heidelberg, Germany and Zürich, Switzerland

Anita MacDonald Dietetic Department The Children's Hospital Birmingham, UK

Alberto Burlina Division of Metabolic diseases Department of Pediatrics University Hospital Padua Padua, Italy

Ania Muntau Department of Molecular Pediatrics Dr von Hauner Children's Hospital Ludwig-Maximilians-University Munich, Germany

Maureen Clearly Metabolic Office Great Ormond Street Hospital NHS Trust London, UK

Friedrich K. Trefz Children’s Hospital Kreis Kliniken Reutlingen GmbH Klinikum am Steinberg School of Medicine University of Tuebingen Reutlingen, Germany

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

Francjan J. van Spronsen Beatrix Childrens Hospital University Medical Center of Groningen Groningen, The Netherlands

Main topics Friday - 15 March 2013 Session I

Advances in PKU research

• Novel mechanisms of PKU brain pathology • Importance of genetic modifiers in PKU • Novel chemical and pharmacological chaperons for PKU Session II

Free oral communications

Session III

Parallel workshops

• European guidelines for PKU • How to test executive function • Combining PKU diet with BH4 therapy • Pitfalls in the management of BH4 deficiencies Session IV

Attended poster presentations

Saturday, 16 March 2013 Session V

Management of PKU in daily practice

• Use of BH4 in patients less than 4 years old (SPARK study) • Clinical trials with the PEG-PAL enzyme substitution • Neuropsychological assessment in PKU • Equity and access to PKU care Session VI

Workshop summaries presentations

Session VII Asbjørn Følling Lecture and Award Session VIII SSIF award for best oral presentation Session IX

PKU Academy fellowship presentation

General information Venue Hilton Istanbul Hotel Cumhuriyet Caddesi Harbiye - Istanbul, Turkey

Language The official language of the symposium will be English.

Registration fee - The registration fees are: - Full registration - including the Symposium dinner on 15 March 2013. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . € 400,00 - Full registration - not including the Symposium dinner on 15 March 2013. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . € 320,00 - Students, trainees, young fellows (post-doctoral and PhD fellows) and registered participants of the 3rd Dietitians Workshop registration - not including the Symposium dinner on 15 March 2013. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . € 250,00 For students, trainees and young fellows (post-doctoral and PhD fellows) a letter from the institution head certifying status must accompany the registration.

These fees include: • Symposium sessions • Symposium material • Symposium coffee breaks, luncheons • Certificate of attendance The symposium will start on Friday, 15 March at 09.00 and will close on Saturday, 16 March at 13.30

Call for abstracts The Scientific Committee invites the submission of abstracts to be considered for oral/poster presentation. Authors are requested to send their abstract by e-mail by November 15, 2012 at the following address: [email protected] Topic choice - “Clinical and research aspects of PKU and BH4 disorders” Abstract format: Title, Authors, Affiliations, Main text including background, aims, materials & methods, results and conclusions (max 400 words) The Scientific Committee will review the submitted abstracts choosing the best abstracts for oral or poster presentation. The selected abstracts will be published in the congress abstract book to be distributed on-site to all participants. Authors of abstracts selected for oral and poster presentations will have their registration fee reimbursed after the conference. Register to PKU Academy website: www.pkuacademy.org

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