Volume 7 Supplement 2

6th European Conference on Rare Diseases and Orphan Products

Meeting abstracts

Edited by Kasia Peala and Alice Elliott

This publication (or activity) has been funded with support from the European Union's Health Programme. This material only reflects the views of the author, and funders cannot be held responsible for any use which may be made of the information contained herein.

6th European Conference on Rare Diseases and Orphan Products. Go to conference site.

Brussels, Belgium23-25 May 2012

Concatenated PDF 7S2

Content type: Meeting abstract

State of the art of rare disease activities in Europe: a EUCERD perspective

Authors: Ségolène Aymé

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A1

Published on: 22 November 2012
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Content type: Meeting abstract

State of the art of rare disease activities around the world: overview of the non-European landscape

Authors: Durhane Wong-Rieger

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A2

Published on: 22 November 2012
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Content type: Meeting abstract

National plans: case study Belgium

Authors: Ri De Ridder

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A3

Published on: 22 November 2012
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Content type: Meeting abstract

The second French plan for rare diseases 2011-2014

Authors: Alain Garcia and Christel Nourissier

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A4

Published on: 22 November 2012
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Content type: Meeting abstract

Scope of centres of expertise for rare diseases in European countries where they exist

Authors: Charlotte Rodwell, Ségolène Aymé and Kate Bushby

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A5

Published on: 22 November 2012
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Content type: Meeting abstract

European Reference Networks: developing a EUCERD opinion

Authors: Kate Bushby

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A6

Published on: 22 November 2012
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Content type: Meeting abstract

Can the cross-borders directive improve the quality of genetic testing in the future?

Authors: Jean-Jacques Cassiman

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A7

Published on: 22 November 2012
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Content type: Meeting abstract

Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)

Authors: Sunil Rodger, Birgit F Steffensen and Hanns Lochmüller

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A8

Published on: 22 November 2012
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Content type: Meeting abstract

Developing a national plan for rare diseases in Germany through concerted action: the national action league for people with rare diseases

Authors: Véronique Héon-Klin, Alexandra Halbach, Miriam Schlangen and Birgit Schnieders

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A9

Published on: 22 November 2012
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Content type: Meeting abstract

Classification and coding of rare diseases: overview of where we stand, rationale, why it matters and what it can change

Authors: Peter N Robinson

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A10

Published on: 22 November 2012
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Content type: Meeting abstract

Speeding up research with the Semantic Web

Authors: Marco Roos, Erik A Schultes and Barend Mons

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A11

Published on: 22 November 2012
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Content type: Meeting abstract

Professional clinical guidelines for rare diseases: methodology

Authors: Odile Kremp, Patrice Dosquet and Ana Rath

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A12

Published on: 22 November 2012
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Content type: Meeting abstract

The involvement of patients in developing clinical guidelines

Authors: Kay Parkinson

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A13

Published on: 22 November 2012
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Content type: Meeting abstract

How reference networks develop, implement, and monitor guidelines

Authors: Jan Kirschner, Sunil Rodger, Julia Vry, Kathrin Gramsch, Hanns Lochmüller and Kate Bushby

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A14

Published on: 22 November 2012
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Content type: Meeting abstract

Training medical students on rare disorders

Authors: Paula C Byrne

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A15

Published on: 22 November 2012
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Content type: Meeting abstract

The Italian project to increase health professionals’ training and awareness on rare diseases

Authors: Simona Bellagambi

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A16

Published on: 22 November 2012
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Content type: Meeting abstract

HTA on neonatal screening for rare metabolic disorders faced misconceptions and blurred objectivity

Authors: Ilona Autti-Rämö

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A17

Published on: 22 November 2012
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Content type: Meeting abstract

Spina Bifida and primary prevention

Authors: Pierre Mertens

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A18

Published on: 22 November 2012
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Content type: Meeting abstract

Finding new medicines to fight CF: multiple steps of a success story

Authors: Margarida D Amaral

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A19

Published on: 22 November 2012
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Content type: Meeting abstract

Exon skipping for DMD

Authors: Annemieke Aartsma-Rus, Jan JGM Verschuuren, Giles V Campion, Gert-jan B van Ommen and Judith CT van Deutekom

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A20

Published on: 22 November 2012
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Content type: Meeting abstract

Fighting for the cures of rare genetic diseases: worthy ideas and promising results demand for strategic research management and for integration of competences and efforts

Authors: Francesca Sofia

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A21

Published on: 22 November 2012
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Content type: Meeting abstract

EPIRARE survey on activities and needs of rare disease registries in the European Union

Authors: Domenica Taruscio, Sabina Gainotti, Luciano Vittozzi, Fabrizio Bianchi, Monica Ensini and Manuel Posada

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A22

Published on: 22 November 2012
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Content type: Meeting abstract

Value and specificity of rare diseases business model-is the pursuit of this societal priority sustainable?

Authors: M Dunoyer and P Rollet

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A23

Published on: 22 November 2012
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Content type: Meeting abstract

Mechanism of coordinated access to orphan drugs

Authors: R DeRidder, C Adriaens, D Kleinermans, M Mortier, A Quanten and F Arickx

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A24

Published on: 22 November 2012
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Content type: Meeting abstract

A coordinated EU approach to informed access decisions: CAVOD process proposals – the possibility to turn concept into reality?

Authors: Wills Hughes-Wilson

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A25

Published on: 22 November 2012
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Content type: Meeting abstract

Market access of orphan drugs and the role of multi-criteria decision making

Authors: Steven Simoens

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A26

Published on: 22 November 2012
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Content type: Meeting abstract

Leveraging existing opportunities for improved Orphan Drug approval in the EU

Authors: Catarina Edfjäll

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A27

Published on: 22 November 2012
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Content type: Meeting abstract

Compassionate use programmes for rare diseases: proposals for actions

Authors: François Houÿez, Chantal Bélorgey, Arielle North, Etelka Czondi and Michele Lipucci di Paola

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A28

Published on: 22 November 2012
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Content type: Meeting abstract

From rationing to rationality: an n-of-one trial service for off-label medicines for rare (neuromuscular) diseases

Authors: Stephanie S Weinreich, Charlotte Vrinten, Jan JGM Verschuuren, Carin A Uyl-de Groot, Marja R Kuijpers, Ellen Sterrenburg, Rob JPM Scholten, Cees FRM van Bezooijen, Marcel FTH Timmen, Sonja van Weely and Martina C Cornel

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A29

Published on: 22 November 2012
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Content type: Meeting abstract

Listening to children’s and parents’ voices: using patient reported outcomes to empower patients with orphan diseases and their parents

Authors: Linda Abetz-Webb

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A30

Published on: 22 November 2012
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Content type: Meeting abstract

The psychological processes involved in patient empowerment

Authors: Isabelle Aujoulat, Bridget Young and Peter Salmon

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A31

Published on: 22 November 2012
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Content type: Meeting abstract

The emergence of the cause of rare diseases and rare disease patients’ movement

Authors: Caroline Huyard

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A32

Published on: 22 November 2012
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Content type: Meeting abstract

The political empowerment of rare disease patient advocates both at EU and national level

Authors: Terkel Andersen

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A33

Published on: 22 November 2012
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Content type: Meeting abstract

Rare family days: a family empowerment programme

Authors: Ane Lind, Lene Jensen and Birthe B Holm

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A34

Published on: 22 November 2012
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Content type: Meeting abstract

The democratic problem in the knowledge society of today: Rare Disorders Denmark’s documentation strategy

Authors: Ane Lind, Lene Jensen and Birthe B Holm

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A35

Published on: 22 November 2012
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Content type: Meeting abstract

Climb’s black and ethnic minority information project (BEMIS)

Authors: Steve Hannigan

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A36

Published on: 22 November 2012
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Content type: Meeting abstract

Developing a cure for Black Bone Disease

Authors: Nicolas T Sireau

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A37

Published on: 22 November 2012
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Content type: Meeting abstract

Is more involvement needed in the clinical trial design & endpoints?

Authors: Elizabeth Vroom

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A38

Published on: 22 November 2012
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Content type: Meeting abstract

Patient perspective on CT Involvement: are they listening to my needs?

Authors: Ulrike Pypops

Citation: Orphanet Journal of Rare Disseases 2012 7(Suppl 2):A39

Published on: 22 November 2012
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Content type: Meeting abstract

A route map for the patients journey

Authors: Paola Pierri

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A40

Published on: 22 November 2012
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Content type: Meeting abstract

First German Academy for Further Medical Training on Rare Diseases (FAKSE,http://www.fakse.info)

Authors: Julia Giehl, Holm Graessner and Olaf Riess

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A41

Published on: 22 November 2012
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6th European Conference on Rare Diseases and Orphan Products

Meeting abstracts

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