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5th European Phenylketonuria Group Symposium 'Advances and Challenges in PKU'

5th European Phenylketonuria Group Symposium 'Advances and Challenges in PKU'
  • Endocrinology and metabolism
  • Phenylketonuria (PKU)
Symposium by Excemed
Friday, Mar 15 - Saturday, Mar 16 2013
Istanbul, Turkey

Accreditation

EACCME®

Event format

Workshop session
Registration status
Closed

Target audiences

Specialists in pediatric
Dietitians
nutritionists
clinical biochemists
genetists
basic scientists
psychologists
Nurses
Healthcare professionals

Files

Overview

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.

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
  • Management of BH4 deficiencies
  • Assessment of executive function in PKU
  • Neuropsychological assessment in PKU
  • Enzyme substitution therapy for PKU
  • Development of EU guidelines for PKU management
  • Metabolomics in PKU

Accreditation details

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.

Additional information

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.

Scientific programme

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

CME provider

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

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 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

Slide kit
Endocrinology and metabolism
Publication
Endocrinology and metabolism
Article
Endocrinology and metabolism
Article
Endocrinology and metabolism
Slide kit
Michael Gibson
Endocrinology and metabolism
Slide kit
Uta Ceglarek
Endocrinology and metabolism
Slide kit
Ehud Gazit
Endocrinology and metabolism
Slide kit
Niels Gregersen
Endocrinology and metabolism
Slide kit
Endocrinology and metabolism