European Working Group on Gaucher Disease

FINAL PROGRAM

As of 29 June 2010

Wednesday, June 30, 2010

Arrival of attendants, reception desk at

Grand Hotel Schloss Bensberg
Kadettenstrasse, D-51429 Bergisch Gladbach
(near Cologne, Germany)
Phone: +49-2204-42969

will be open in the afternoon and evening

please note:

19.30-22.00
Welcome reception with fingerfood drinks
Lobby of Grand Hotel Schloss Bensberg
 
Thursday, July 1, 2010

Start of lectures:     9:30 am, Ballroom Schloss Bensberg

9.30-9.35    Welcome remarks
    S. vom Dahl, Cologne

9.35-10.10     Opening lecture: “From the beginning”   
    H. Aerts, Amsterdam

Session I    Basic research
   
    Chairs: H. Michelakakis, Athens
    Martin Hrebicek, Prague

10.10-10.35    Lysosomal integral membrane protein type-2 sorting receptor of ß-glucocerebrosidase: a cell-type specific mechanism   
    A. Balreira, Porto

10.35-10.50    Glucocerebrosidase alternative promoter has features and expression characteristic of housekeeping genes   
    E. Svobodova, Prague
       

10.50-11.15    Efficient CNS, PNS and visceral gene delivery following fetal and neonatal intravenous administration of AAV9 – an approach for studying type II neuronopathic Gaucher disease
A. Rahim, London

11.15-11.45    Coffee break


Session II    Clinical aspects
   
    Chairs: P. Deegan, Cambridge
    A. Tylki-Szymanska   

11.45-12.10    Invited lecture: “The potential role of EU politicians in improving patient outcome and research in orphan diseases”       
P. Liese, MEP, Brussels

12.10-12.15    Nomination of Dr. Liese as EGA honorary chairman
    J. Manuel, London

12.15-12.35    Influence of c.(-203)>G variant in the glucocerebrosidase gene in type 1 Gaucher Disease phenotype   
P. Alfonso, Zaragoza

12.35-12.55    Diffusion Tensor Imaging: Study of brain white mater i
n paediatric Gaucher Type I and Type III   
E. Davies, London

12.55-13.15    Osteonecrosis of the head of femur in Gaucher disease:
a descriptive study of histological changes   
E. Lebel, Jerusalem

13.15-14.00    Lunch

14.00-14.45     Poster tour
    (Guides: A. Zimran, Jerusalem and H. Michelakakis, Athens), poster presenters 1-20 have to be at their posters, posters will be discussed in two separate groups 1-10, and 11-20 synchronously


Session III    Clinical goals

    Chairs: N. Belmatoug, Paris
    E. Lukina, Moscow   

14.45-15.00    Helping to optimise patient care in Gaucher Disease:
A novel assessment and monitoring tool for therapeutic GoalsG. Pastores, New York, NY

15.00-15.15    Longterm Outcome with ERT in 26 German pediatric
    Gaucher patients   
    A. Heidrich, Mainz

15.15-15.30    Bone mineral density responses to enzyme replacement therapy in pediatric patients   
G. Ciana, Udine

15.30-15.45    Significant and continuous improvement in bone mineral density among type 1 Gaucher disease patients treated with velaglucerase alfa:
69-month experience, including dose reduction   
D. Elstein, Jerusalem

15.45-16.15     Coffee break


Session IV    Shortage of imiglucerase

    Chairs: T. Cox, Cambridge
    M. Beck, Mainz   

   
 
Status of current situation in

16.15-16.30    Israel and Australia    A. Zimran, Jerusalem

16.30-16.35    The Netherlands     L. v. Dussen,
        Amsterdam

16.35-16.40    Spain    P. Giraldo, Zaragoza

16.40-16.45    Italy    A. Saccari, Udine

16.45-16.50    France    N. Belmatoug
    (on behalf of CETG (Comité d´Evaluation du Traitement de la maladie de Gaucher), Paris

16.50-16.55    United Kingdom    D. Hughes, London

16.55-17.00    Cerezyme Emergency Treatment Program C. Hollak,
        Amsterdam

17.00-17.15    Discussion    All

    The companies´ standpoints

17.15-17.30    Genzyme     O. Amitay, Boston,
        MA
   
17.30-17.35    Protalix Biotherapeutics    D. Aviezer, Carmiel

17.35-17.40    Actelion    O. Morand, Basel
   
17.40-17.45    Shire HGT    M. Rothera, Boston,
        MA

17.45-18.15    Discussion    All



19.30    Departure with tram No. 1 to Köln citycentre, social event in local brewery (please note: 10 min walk from the hotel to the tram, will you still be able to make it?)

Location: Kölner Hofbräu, P-Josef-Früh KG, Am Hof 12-18, 50667 Köln (opposite to the Cathedral), Tel. +49-221-26130

23.00    Return with buses from Köln to hotels
 
Friday, July 2, 2010

Session V    Patient perspectives and registries

    Chairs: Carla Hollak, Amsterdam
    Jeremy Manuel, London

8.45-9.00    Choices and challenges   
T. Collin-Histed, Gloucestershire; P. Niemeyer, Luxembourg

9.00-9.15    Registries: benefits and limitations   
C. Hollak, Amsterdam
       
9.15-9.25    Genzyme: ICGG   
R. Moscicki, Boston, MA

9.25-9.30        Shire Human Genetic Therapies: GOS   
   A. Conway, Boston, MA

9.30-9.35    Actelion: IS3   
O. Morand, Basel

9.35-9.40    Pfizer/Protalix Biotherapeutics   
R. Urbanski, New York, NY

9.40-10.00    Discussion    
All

10.00-10.30     Coffee Break


Session VI    Neurological aspects

    Chairs: H. Rosenbaum, Haifa
    H. Aerts, Amsterdam   
 
10.30-10.55    Invited lecture: “Parkinsonism and Gaucher disease”   
E. Sidransky, Bethesda, MD
   
10.55-11.15    Early signs of Parkinson’s disease in Gaucher patients   
T. Boettcher, Rostock

11.15-11.30    Four year follow up of Type III Gaucher patients using a modified Severity Scoring Tool   
E. Davies, London

11.30-11.50    Type 1 Gaucher disease patients exhibit cognitive function deficits: results of a two-year prospective observational study
M. Biegstraaten, Amsterdam

11.50-12.05    Neuronopathic Gaucher disease: Follow Up and Longterm Outcome in 30 German Patients   
E. Mengel, Mainz

12.05-13.00     Lunch

13.00-14.00    Poster tour II (Guides: S,. vom Dahl, Cologne and M. Hrebiczek, Prague), poster presenters 21-45 have to be at their posters, posters will be presented in 2 groups
(21-32, and 33-45 synchronously)


Session VII    Pathophysiology
   
    Chairs: P. Giraldo, Zaragoza
    M. Horowitz, Tel Aviv   

14.00-14.25    Parkin-mediated ubiquitination and degradation of mutant glucocerebrosidase variants-a possible link between GD and Parkinson disease   
M. Horowitz, Tel Aviv

14.25-14.50    The link between innate immunity and Gaucher disease   
O. Goker-Alpan, Springfield, VA

14.50-15.10    Reducing glycosphingolipids restores insulin sensitivity in obese mice   
M. van Eijk, Amsterdam

15.10-15.30    Role of GBA2 in Gaucher disease   
Y. Yildiz, Bonn

15.30-16.00    GBA1-deficient mice recapitulates Gaucher's disease displaying system-wide cellular and molecular dysregulation beyond the macrophage: evidence for an osteoblastic bone formation defect underlying osteopenia   
P. Mistry, New Haven, CT

16.00-17.00     Coffee Break (with football viewing option)

17.00-19.00     Business Meeting of the EWGGD (to be postponed by
45 min, if Soccer World Cup 1st quarterfinal of outstanding interest, match should end by 17.45)

    Chairs: S. vom Dahl, Cologne
    B. Bembi, Udine   

    EWGGD Business meeting in Amsterdam 2009 (C. Hollak)
    Discussion on potential EWGGD constitution (J. Manuel)
    Election of new EWGGD board members (S. vom Dahl)
    Election of organizer of 10th workshop 2012 (S. vom Dahl)

19.30-22.30    Buffet dinner at the Grand Hotel Schloss Bensberg (including opportunity to see 2nd quarterfinal)

After buffet dinner, transfer to hotels outside Grand Hotel will be organized



Saturday, July 3, 2010

Session VIII    New aspects and novel therapies

    Chairs: P. Mistry, Yale, CT
    A. Mehta, London   

9.00-9.25    Imiglucerase biosimilar development for Gaucher disease   
H. Park, Seoul

9.25-9.50    Novel enzyme replacement therapy for Gaucher disease: phase III pivotal clinical trial with plant cell expressed recombinant glucocerebrosidase (prGCD) - taliglucerase alfa
A. Zimran, Jerusalem

9.50-10.10    Enzyme replacement therapy with velaglucerase alfa significantly improves key clinical parameters in type I disease: positive results from a randomized double-blind, global phase III study   
A. Zimran, Jerusalem

10.10-10.30    Whole body MRI in type I Gaucher patients: preliminary results of bone involvement   
L. Poll, Duisburg

10.30-11.00    Coffee break

    Chairs: V. Gieselmann, Bonn
    G. Pastores, New York, NY

11.00-11.10    Antigenic differences in patients with type 1 Gaucher disease receiving velaglucerase alfa or imiglucerase enzyme replacement therapy in controlled clinical trials   
J. Lyczak, Cambridge, MA

11.10-11.20    Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase   
P. Giraldo, Zaragoza

11.20-11.40    A novel, ultra-sensitive technique to visualize active glucocerebrosidase   
W. Kallemeijn, Amsterdam

11.40-11.55    Eliglustat tartrate, An investigational oral compound for Gaucher disease type 1 (GD1): phase 2 results after 2 years
E. Lukina, Moscow

11.55-12.15    SP2-Iminisugars as pharmacological chaperones for Gaucher disease: mutation profiling, cellular uptake and intracellular distribution studies   
Z. Luan, Yonago

12.15    An appreciation of the work of Prof. Bruno Berra, Italy
Prizes and thanks   
B. Bembi, Udine

12.15     Invitation to the next EWGGD meeting    organizer next meeting

12.25    Closing remarks: ”To the future”    
S. vom Dahl, Cologne

12.30     End of meeting


12.30-13.00    Small lunch before departure
       
    Departure to trains, cars and airports




Thank you for being with us, have all a safe journey back home.
 

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