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3rd European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU

3rd European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU
  • Endocrinology and metabolism
  • Phenylketonuria (PKU)
Symposium by Excemed
Friday, Mar 25 - Saturday, Mar 26 2011
Lisbon, Portugal

Accreditation

EACCME®
Registration status
Closed

To register for this event, contact

For information about hotel accommodation, please contact the Organizing Secretariat (s.guglielmini@meridiano.it)

Target audiences

Specialists in pediatric
Dietitians
nutritionists
clinical biochemists
experts in genetics
basic scientists

Overview

There is no doubt that the early identification of PKU and prompt intervention have allowed most individuals to escape from mental retardation. Dietary restriction of phenylalanine remains the mainstay of treatment but PKU is an active area of research and new treatment options are emerging that may reduce the burden of the difficult and restrictive diet on patients and their families.

The recent introduction of sapropterin dihydrochloride (BH4) into therapeutic use is likely to contribute to the management of PKU for a subset of patients who respond to this treatment. There is also an emerging need for evidence-based international guidelines to provide consensus concerning treatment initiation and determination of the response to therapy with sapropterin, as well as consensus on target blood Phe concentrations, and clarity on optimized treatment protocols for the management of PKU and HPA.

For this reason Serono Symposia International Foundation and the European Phenylketonuria Group (EPG), continuing their series of successful meetings, has organised the 2011 Annual Symposium dedicated to PKU. The aim of the meeting is to review the most important outcomes of research in the field and to provide a forum for participants to discuss solutions that can optimize patient management in clinical practice.

Learning objectives

After attending this symposium, the participants will have up-to-date knowledge about:

  •     Pathophysiology of PKU
  •     Diagnosis, classification, and genetics of PKU
  •     Maternal and adult PKU
  •     Nutritional treatment
  •     Current trials in PKU
  •     Advances in PKU research on pharma-chaperons
  •     Other treatment options

Accreditation details

Serono Symposia International Foundation (www.seronosymposia.org) has submitted this program 3rd EPG Symposium “Advances and Challenges in PKU” (March 25-26, 2011 – Lisbon, Portugal) for accreditation by the European Accreditation Council for Continuing Medical Education (EACCME). There is an official agreement for mutual recognition of CME credits between the European Accreditation Council for Continuing Medical Education (EACCME) and the American Medical Association (AMA).

Serono Symposia International Foundation (www.seronosymposia.org) has applied to the Royal College of Physicians, London, UK for CME accreditation of the conference 3rd EPG Symposium “Advances and Challenges in PKU” (March 25-26, 2011 – Lisbon, Portugal).

This program 3rd EPG Symposium “Advances and Challenges in PKU” (March 25-26, 2011 – Lisbon, Portugal) has been submitted for CME accreditation from the Italian Ministry of Health - Reference numbers: 13776 – 11005588 (physicians) and 13776 – 11005589 (dietitians).

Additional information

Learning effectiveness project

Serono Symposia International Foundation is conducting a Learning effectiveness project at selected meetings during 2011. The 3rd European Phenylketonuria Group meeting has been chosen to participate in this project. The world of CME is changing with many different live and online formats, and Serono Symposia International Foundation (SSIF) is continually trying to improve its CME activities. With your participation in a structured series of evaluations, SSIF can provide cutting-edge learning activities designed to give you the greatest value from the time you invest. SSIF will be running the learning effectiveness project for this meeting.

You will be involved in four main steps that will be explained in detail once you register.

Participant at CME activities will be asked to undertake the following steps:

  • Pre-event: when you register to the conference, you will be asked to complete a questionnaire via e-mail to evaluate your knowledge on the specific topics that will be covered during the conference. This will allow faculty members to adapt their presentations and make them relevant to your needs
  • During the conference: you will be asked to complete a feedback evaluation form to assess the program in various domains such as whether you were satisfied with the meeting, whether it met the stated learning objectives, whether the contents were neutral and will be applicable to your daily practice
  • Post-event: three weeks after the event we will email you a short questionnaire which will give you the opportunity to tell us how much of what you learned has had an affect on your know-how and daily practice
  • Follow-up: three-months after the event, we will contact you with the final questionnaire

 

We will collate and analyse your responses and use the results to improve and develop our ongoing programs. Of course, we commit to maintaining the confidentiality of the information you provide and we will inform you about the results of the process regarding the activity that you attended.

Scientific programme

Friday, March 25, 2011

 

Session I

Chairmen: Mübeccel Demirkol (Turkey); François Feillet (France)

 

 

Vitamin

 

Vitamin B12 deficiency in phenylketonuria and impact on brain function
John Walter, UK
Oxidative stress in patients with Phenylketonuria
Carmen Regla Vargas, Brazil
Progress in phenylalanine hydroxylase and chaperone research
Aurora Martinez, Norway
Current trials for alternative treatment of phenylketonuria
Rani H. Singh,USA

 

 

Workshop sessions: Current position of PKU disciplines in Europe

 

 

Workshop I: Diagnosis , classification and genetics

 

Blau Workshop l
N. Blau,  Switzerland
Langenbeck Workshop l
U. Langenbeck, Germany
Hennermann Workshop l
J.B. Hennermann, Germany
Lichter-Konecki Workshop l
U. Lichter-Konecki ,USA

 

 

Workshop II: Nutritional treatment

 

MacDonald Workshop ll
A. MacDonald, UK
van Rijn Workshop ll
M. van Rijn,Netherlands
Roch Workshop ll
J. C. Rocha, Portugal

 

 

Workshop III: Other treatment options

 

 

Experts panel:

 

Belanger-Quintana Workshop lll
Belanger-Quintana Workshop lll 2
A. Bélanger-Quintana, Spain
Muntau Workshop lll
A. Muntau, Germany
Burlina Workshop lll
A. Burlina, Italy
Harding Workshop lll
Harding Workshop lll 2
C.O. Harding, USA

 

 

Workshop IV: Maternal and adult PKU management

 

 

Experts panel:

 

Maternal PKU Workshop lV
Adult PKU Workshop lV
F.K. Trefz, Germany
F. Maillot, France
M. Schwarz, Germany
K. Motzfeldt, Norway

 

 

Workshop V: Follow-up of PKU patients

 

 

Experts panel:

 

Demirkol and Gizewska Workshop V
M. Demirkol, Turkey; M. Gizewska, Poland
Giovannini Workshop V 2
M. Giovannini, Italy; J. Walter, UK

 

 

Workshop VI: Outcome (neurology, neruopsychology, Qol, etc)

 

 

Experts panel:

 

Expert panel Workshop Vl
F.J. van Spronsen, Netherlands
Bosch Workshop Vl
A.M. Bosch, Netherlands
Huijbregts Workshop Vl
S. Huijbregts, Netherlands
Leuzzi Workshop Vl
V. Leuzzi, Italy

 

Saturday, March 26, 2011

 

Session II

Chairmen: Amaya Bélanger-Quintana (Spain); Friedrich K. Trefz (Germany)

 

Selected Oral Communications

G46s-hPAH: Study of a PKU Aggregation-prone Mutation

João Travassos Leandro, Portugal

Antisense oligonucleotides correct aberrant PTS-splicing: Therapeutical potential to treat hyperphenylalaninemia and brain monoamnie neurotransmitter deficiency

Sandra Brasil, Spain

Does BH4 treatment reduce depressive symptoms in C57B1/6 PKU mice

Martijn de Groot, Netherlands

Treatment and follow-up of tetrahydrobiopterindeficiencies

Patricia Janeiro, Portugal

The 48-hour BH4-loading test, what does it tell us. A Dutch multicenter study

Karen Anjema, Netherlands

BH4 withdrawal test in patients with phenylalanine hydroxylase deficiency on long term treatment with sapropterin

Iris Scala, Italy

BH4-responsiveness in south Portugal PKU patients

Isabel Antolin Rivera, Portugal

Management and registry of the Spanish phenylketonuric patients: results of the Collaborative Group of the Follow-up Units.

MªAntonia Vilaseca, Spain

 

 

Workshops summaries

Chairmen: Ania Muntau (Germany); Marcello Giovannini (Italy)

 

Workshop summaries presentations and discussion

Workshop l Summary

Workshop ll Summary

Workshop lll Summary

Workshop lV Summary

Workshop V Summary

Workshop Vl

 

 

Asbjørn Følling Lecture and Award

Chairmen: Anita MacDonald (UK); Francjan van Spronsen (Netherlands)

 

Tetrahydrobiopterin Research: Back to the Future

Nenad Blau, Switzerland

CME provider

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
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

Marcello Giovannini
Department of Pediatrics

San Paolo Hospital

University of Milan

Milan, Italy

Anita MacDonald
Dietetic Department

The Children’s Hospital

Birmingham, UK

Ania Muntau
Departments of Inborn Errors of Metabolism and of Molecular Pediatrics

Dr von Hauner Children’s Hospital

Ludwig-Maximilians-University

Munich, Germany

Friedrich K. Trefz
Medizinisches Versorgungszentrum Gammertingen

Kreiskliniken Reutlingen GmbH

Gammertingen, Germany

Francjan J. van Spronsen
Beatrix Childrens Hospital

University Medical Center of Groningen

Groningen, 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:

Karen Anjema Declared that the work presented was founded by a research grant of Merck, The Netherlands.

Amaya Bélanger-Quintana Declared receipt of honoraria or consultation fees from Mead Johnson and to be member of Merck Serono advisory board. Declared that her presentation will discuss current off-label but approved use of sapropterin as compassionate medication.

Nenad Blau Declared to be a member of MerckSerono SA. Switzerland PKU advisory board.

Annet M. Bosch Declared to be member of Merck Serono advisory board on development of a QoL questionnaire for PKU and of the Advisory board ELEMENT committee of Nutricia.

Sandra D. Arduim Brasil Declared no potential conflict of interest.

Alberto Burlina Declared to be member of KAMPER advisory board.

Martijn de Groot Declared that her work was funded by a research grant of Merck-the Netherlands.

Mübeccel Demirkol Declared to be member of Scientific Board of European PKU Group.

Lourdes Ruiz Desviat Declared no potential conflict of interest.

François Feillet Declared to be member of the advisory board of Merck Serono on PKU, member of the advisory board of the KAMPER registry and member of the advisory board of Nutricia on nutritional treatment of IEM.

Marcello Giovannini Declared to be member of Merck Serono advisory board – European PKU Group (SAB / EPG).

Maria Giżewska Declared receipt of honoraria or consultation fees from Nutricia Advanced Medical Nutrition for preparing educational materials for patients and professionals and to be member of Experts Leading Education in Metabolic Error Nutritional Therapy (ELEMENT), Nutricia Advanced Medical Nutrition. Declared also to have been speaker for Nutricia Advanced Medical Nutrition and Merck and invited guest for Merck “Luminaries meeting” Geneva 18-19 November 2010.

Cary O. Harding Declared receipt of contracts for clinical research with BioMarin Corp. and SHS Nutricia and receipt of honoraria for participation in BioMarin scientific workshops.

Julia B. Hennermann Declared to have participated in the KAMPER study and in the PKU – 001 - 008 studies.

Stephan Huijbregts Declared receipt of grants and contracts from NutsOhra Research Funding: Executive Function in Adolescents and Young Adults with PKU: A Follow-up Study after 10 years (with Dr. Van Spronsen and Dr. De Sonneville). Declared also receipt of honoraria and consultation fees as Consultant/Member of Steering Committee of Merck Serono S.A., Geneva, Switzerland – “A Multicenter, Double-Blind, Placebo-Controlled, Randomized, 2-Arm Phase IIIb Pilot Trial Assessing the Effect of Sapropterin on Cognitive Abilities in Young Adults in Phenylketonuria” (SIGNAL).

Patrícia Janeiro Declared no potential conflict of interest.

Ulrich Langenbeck Declared no potential conflict of interest.

João Travassos Leandro Declared that the investigational status of products used in in vitro studies will be clearly stated in the slides and presentation.

Vincenzo Leuzzi Declared no potential conflict of interest.

Uta Lichter-Konecki Declared receipt of grants and contracts to participate in the BIOMARIN PKU Registry which documents clinical data of patients on KUVAN and to be conducting clinical trials with Hyperion and Cytonet in patients with urea cycle disorders and to receive a reimbursement for the efforts of conducting the trials.

Anita MacDonald Declared receipt of research grant/posts from Nutricia and Vitaflo, of honoraria from Nutricia, Vitaflo and Merck Serono, member of Sapropterin PKU Advisory Board; Chair of ENEP; and Member of Nutricia Advisory Board for IMD.

François Maillot Declared no potential conflict of interest.

Aurora Martinez Declared that her presentation will include among other results with some compounds discovered by high throughput screening, already published in: Pey AL, Ying M, Cremades N, Velazquez-Campoy A, Scherer T, Thöny B, Sancho J and Martinez A (2008). Pharmacological chaperones as therapeutic agents to treat phenylketonuria. J. Clin. Invest. 118, 2858-2867

Kristina Motzfeldt Declared to be Member of ENEP, European Nutritional Expert Panel in PKU, sponsored by Merck Serono and that she will be sponsored by SHS International for travelling expenses to a meeting in Metabolic in April 2011 in London.

Ania Muntau Declared receipt of grants and contracts, honoraria or consultation fees from Merck Serono and to be member of Merck Serono advisory board.

Isabel Antolin Rivera Declared no potential conflict of interest.

Júlio César Rocha Declared participation at the Merck Serono’s Satellite Symposium – SSIEM 2010 and to be member of the European Nutritionist Expert Panel – Merck Serono

Rani H. Singh Declared receipt of contract with BioMarin and that her presentation will report investigator-sponsored trial results sponsored by US the company, BioMarin.

Martin Schwarz Declared no potential conflict of interest.

Isabel Tavares de Almeida Declared no potential conflict of interest.

Friedrich K. Trefz Declared to be member of the European PKU Advisory Board.

Kurt Ullrich Declared no potential conflict of interest.

Margreet van Rijn Declared receipt of honoraria or consultation fees as member of the ENEP Nutritionist expert panel.

Carmen Regla Vargas Declared no potential conflict of interest.

Hiu Man Viecelli Declared no potential conflict of interest.

MªAntonia Vilaseca Declared no potential conflict of interest.

John Walter 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 March 10, 2011.

Iris Scala

Francjan J. van Spronsen

Registration/Accommodation

Francjan J. van Spronsen

Beatrix Childrens Hospital

University Medical Center of Groningen

Groningen, Netherlands

Anita MacDonald
Dietetic Department

The Children’s Hospital

Birmingham, UK

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