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1st European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU

1st European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU
  • Endocrinology and metabolism
  • Phenylketonuria (PKU)
Symposium by Excemed
Friday, Jan 16 - Saturday, Jan 17 2009
Barcelona, Spain

Accreditation

EACCME®

Event format

Workshop session

Language

The official language of this Symposium will be English.

Registration status
Closed

Target audiences

pediatric and adult metabolic specialists
Dietitians
clinical biochemists
experts in genetics
basic scientists

Files

Overview

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.

Learning objectives

After participating in this symposium, the participants will have an updated knowledge on:

  • Treatment with large neutral amino acids
  • Treatment with tetrahydrobiopterin
  • Enzyme replacement and gene therapy
  • Compliance with the management of PKU
  • Nutritional care of PKU
  • Maternal PKU
  • Follow-up and outcome of PKU

Accreditation details

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.

Scientific programme

FRIDAY - JANUARY 16, 2009

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

SESSION I: LARGE NEUTRAL AMINO ACIDS

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

SESSION II: TETRAHYDROBIOPTERIN

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

 

SATURDAY - JANUARY 17, 2009

SESSION III: ENZYME REPLACEMENT AND GENE THERAPY

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

ASBJØRN FØLLING LECTURE “GIANTS IN PKU”

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

CME provider

Serono Symposia International Foundation

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

 

Scientific committee

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

Chair(s)

Nenad Blau

Senior Consultant in Biochemical Genetics
Dietmar-Hopp-Metabolic Center
Division of Clinical Chemistry and Biochemistry
University Children's Hospital
Heidelberg, Germany

Faculty

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

Registration/Accommodation

Meridiano Congress International

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

 

Organizing committee

 

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