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The official language of this Symposium will be English.
The aim of the Symposium is to create an interdisciplinary forum for discussing present and future developments in the field of phenylketonuria (PKU). PKU was formerly one of the most frequent definable causes of mental retardation. Thanks to newborn screening and early dietary therapy, mental retardation is now rarely seen in PKU. As a consequence of this remarkable and dramatic development, PKU has become the flagship for treatable genetic disease. Despite this wonderful advance, however, there remains a number of very troubling problems in long term outcome. Included among these is disagreement on how long the diet should be continued. Thus, new approaches such as enzyme replacement therapy, gene therapy, large neutral amino acids (LNAA), and tetrahydrobiopterin are of interest. This Symposium is the first in the series of CME events and is organized by the European PKU Group (EPG). Discussed will be past, present and future efforts on PKU treatment and four workshops will be included. The end results of these synergistic and open communications will benefit the patients and their families.
After participating in this symposium, the participants will have an updated knowledge on:
Serono Symposia International Foundation (www.seronosymposia.org) has submitted this program “1st European Phenylketonuria Group (EPG) Symposium - Advances and Challenges in PKU” (January 16-17, 2009 - Barcelona, Spain) for accreditation by the European Accreditation Council for Continuing Medical Education (EACCME), by the Royal College of Physicians, UK, and by the Italian Ministry of Health (ref. number: 13776 - 9000514).
The Royal College of Physicians, UK, has accredited this program “1st European Phenylketonuria Group (EPG) Symposium - Advances and Challenges in PKU” (January 16-17, 2009 - Barcelona, Spain) with 7 (seven) credit hours.
11.00 Welcome Lunch and Registration
12.25 Welcome
Host Chairman: Jaime Campistol Plana, Spain
12.30 Serono Symposia International Foundation (SSIF) Opening
Olivier Dunant, Switzerland
12.35 Introduction
Chairman: Nenad Blau, Switzerland
12.40 Introduction:
Francjan J. van Spronsen, The Netherlands
12.50 L1: Serine and LNAA transport
Olaf A. Bodamer, Austria
13.10 L2: Dietary glycomacropeptide and LNAA transport
Denise M. Ney, USA
13.30 L3: LNAA in daily practice
Kirsten Kiaer Ahring, Denmark
13.50 Discussion
14.00 Coffee break
14.25 Introduction:
Nenad Blau, Switzerland
14.35 L4: Treatment modalities with BH4 in PKU patients
Amaya Bélanger Quintana, Spain
14.55 L5: BH4 or BH4 + PKU diet?
Rani H. Singh, USA
15.15 L6: Long-term follow-up of PKU patients on BH4
Friedrich K. Trefz, Germany
15.35 Discussion
15.45 Coffee break and transfer to parallel workshop rooms
16.15 PARALLEL WORKSHOPS
WORKSHOP 1: Compliance with the management of PKU
Chairmen: Peter Burgard, Germany - Anita MacDonald, UK
• What is the definition of good compliance in PKU?
• What is compliance with diet (compared with national
recommendations)?
• Children
• Teenagers
• Adults
• How good is the evidence?
• Is there any evidence to suggest that trends are changing?
• What data should we be collecting nationally and internationally
about compliance?
WORKSHOP 2: Nutritional care of PKU
Chairmen: François Feillet, France - Carlo Agostoni, Italy
• Identify main nutritional issues?
• What is the magnitude of each issue and why?
• What are the trends from country to country?
• How well is the nutritional state of patients monitored?
• Define minimal routine nutritional status data (and its frequency)
that should be collected?
WORKSHOP 3: Maternal PKU
Chairmen: Friedrich K. Trefz, Germany - Harvey L. Levy, USA
• How well is maternal PKU managed on an International basis?
• What is the proportion of women managed pre-conception and during
pregnancy?
• What are the gaps in the knowledge about maternal PKU care?
• How should maternal PKU women be monitored throughout pregnancy:
define minimal and optimal standards of care?
• Long term follow up of their children - what do we know and don’t
know?
WORKSHOP 4: Follow-up and outcome of PKU
Chairmen: Francjan J. van Spronsen, The Netherlands
Amaya Bélanger Quintana, Spain
• What is known about the long term outcome of adult patients?
• How robust is the data? What are the gaps in knowledge? What
minimal follow-up data should be collected internationally?
• What do we know about the psychosocial outcome of patients- school
achievement, work, relationships etc?
• How frequently should patients be monitored (clinics and blood testing)?
• Children, teenagers, adults
• What should be monitored?
• Blood phenylalanine, psycho-metric tests?, Other
18.15 End of the day
08.30 Introduction:
Cary Harding, USA
08.40 L7: PKU: Gene therapy, enzyme therapy, molecular chaperones?
Philip J. Laipis, USA
09.00 L8: Long-term correction of PKU by a viral gene transfer: liver vs.
muscle
Beat Thöny, Switzerland
09.20 L9: Therapeutic liver repopulation for PKU
Cary Harding, USA
09.40 Discussion
09.50 Coffee break
10.20 Workshop summaries and general discussion
Moderators Workshops 1-4
11.50 Introduction:
Ivar Følling, Norway
12.00 L10: The Giant Achievers in Phenylketonuria Research
Richard Koch, USA
12.25 Presentation of the Award
Nenad Blau, Switzerland - Ivar Følling, Norway
12.30 Closing remarks and end of the Symposium
Salita di San Nicola da Tolentino, 1/b - 00187 Rome, Italy
Senior Project Manager: Annamaria Nesticò
Tel.: +39-06-420413 591 - Fax: +39-06-420413 677
E-mail: info@seronosymposia.org
Serono Symposia International Foundation is a Swiss Foundation with headquarters in 14, rue du Rhône, 1204 Genève, Switzerland
Amaya Bélanger Quintana
Unidad de Enfermedades Metabólicas
Servicio de Pediatría
Hospital Ramón y Caja
Madrid, Spain
Nenad Blau
Division of Clinical Chemistry and Biochemistry
University Children's Hospital
Zürich, Switzerland
Mübeccel Demirkol
Department of Nutrition and Metabolism
Istanbul Faculty of Medicine
Children's Hospital
Istanbul, Turkey
François Feillet
Centre de Référence des Maladies Héréditaires du Métabolisme
Hôpital d’Enfants, CHU Brabois
Vandoeuvre les Nancy, France
Marcello Giovannini
Department of Pediatrics
San Paolo Hospital
University of Milan
Milan, Italy
Anita MacDonald
Dietetic Department
The Children's Hospital
Birmingham, UK
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 participants may form their own judgments, 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 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:
Carlo Agostoni Declared no potential conflict of interest.
Kirsten Kiaer Ahring Declared no potential conflict of interest.
Amaya Bélanger Quintana Declared that her presentation will contain discussion of off-labelled or otherwise non-approved use of products. The product is currently approved in the US and in the process of being approved in Europe. It has been used as a “compassive use” medication, approved by the Spanish legislation, with the informed consent of patients or their legal guardians.
Nenad Blau Declared to be a member of Merck Serono SA Advisory Board.
Olaf A. Bodamer Declared no potential conflict of interest.
Peter Burgard Declared no potential conflict of interest.
Jaime Campistol Plana Declared no potential conflict of interest.
François Feillet Declared to be a member of Merck Serono SA Advisory Board.
Ivar Følling Declared no potential conflict of interest.
Cary Harding Declared no potential conflict of interest.
Philip J. Laipis Declared receipt of a research grant and contract from BioMarin Pharmaceuticals Inc. and from the University of Florida.
Harvey L. Levy Declared receipt of honoraria or consultation fees from BioMarin Pharmaceuticals, Inc. and to be a member of company advisory board, board of directors or other similar group of the same company.
Anita MacDonald Declared no potential conflict of interest.
Denise M. Ney Declared receipt of grants and contracts from NIH at the end of July 2008
Rani H. Singh Declared no potential conflict of interest.
Beat Thöny Declared no potential conflict of interest.
Francjan J. Van Spronsen Declared receipt of honoraria or consultation fees from European Working Group on Tyrosinemia Type 1 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 December 18, 2008.
Richard Koch
Friedrich K. Trefz
Via Mentana, 2/B - 00185 Rome - Italy
Point Person: Simona Germoni
Phone: +39-06-88595 209 - Fax: +39-06-88595 234
E-mail: s.germoni@meridiano.it
Nenad Blau
Division of Clinical Chemistry and Biochemistry
University Children's Hospital
Zürich, Switzerland
Anita MacDonald
Dietetic Department
The Children's Hospital
Birmingham, UK
Francjan J. van Spronsen
Beatrix Childrens Hospital
University Medical Center Groningen
Groningen, The Netherlands
