Unraveling Fabry disease, improving care

21st and 22nd March 2014Rome, Italy

3rd European Fabry Expert Lounge

This meeting is sponsored by Genzyme

Sheraton Roma Hotel & Conference CenterViale del Pattinaggio, 100Rome 00144Italywww.sheratonrome.com

The Scientific Committee of the Fabry Expert Lounge is responsible for the Scientific programme. This meeting is sponsored by Genzyme, a Sanofi company. With the exception of the Genzyme employees presenting the company perspective, all speakers at this meeting are expressing their personal opinion and these are not necessarily those of Genzyme.

Call for abstract submission for postersWith significant amounts of clinical data to be shared on Fabry Disease, submitting your abstract offers the Fabry community a unique opportunity to learn from your knowledge and experience on diagnosis and treatment of Fabry Disease.

• Abstract submission email address: fabryexpertlounge@genzyme.com• Deadline for submission: 7th February 2014

Submission requirements:

The title of the abstract should not exceed 150 characters, including spaces. The author’s names should be without titles. The abstract body should be between 300 – 350 words in length, and be divided in three sections: introduction, description/cases/results, and conclusion/discussion. Please include up to 4 keywords.

Poster process & Awards:

At the end of February, the Abstract & Poster Committee will make a selection of the best abstracts and invite authors to submit a scientific poster. The main symposium programme will be announcing the 3 winning posters in a plenary session.

Fabr/00/P193/0/12-13

Dear Colleagues,

On behalf of the scientific committee, it is our pleasure to share with you the scientific meeting programme of the 3rd Fabry Expert Lounge to be held in Rome, Italy from 21st – 22nd March 2014.

The 3rd Fabry Expert Lounge provides an international platform for mainly European experts in Fabry disease, to share advances in the diagnosis and clinical management of the disease, with special focus on the unmet need in the condition. Particular emphasis will be made to cover practical clinical issues that have a direct impact on the management of Fabry patients.

As Fabry disease is a multi-systemic disorder, the scientific committee is excited to bring to the programme various organ impairment allowing multi-disciplinary teams to benefit from the latest clinical data.

Sharing of exciting cutting edge worldwide data and clinical implications will be stimulated, leading to the next steps of advancements in optimal patient management and care.

Discussions will include the differential diagnosis of Fabry disease and which appropriate tests to run to shorten the delay in diagnosis (documented at an average of 13 years for male patients and 18 years for female patients).

The Fabry Expert Lounge represents an environment designed to encourage and develop patient centric solutions, allowing you to make the right decision, for the right patient, at the right time. This meeting will additionally facilitate networking across the international Fabry community and encourage working group formation.

We look forward to welcoming you to Rome to participate at an exciting interactive scientific event.

Sincerely,

Chair: Co-Chair:

Ulla Feldt-Rasmussen David G. Warnock

11:30 - 12:50 Buffet lunch

13:00 - 13:10 Welcome and introduction Ulla Feldt-Rasmussen David G. WarnockAlessandro Burlina

Session 1 CardiologyChairs: Perry Elliott & Ales Linhart

Can we identify a preclinical phenotype?

13:10 - 13:25 • Biomarkers and imaging Ales Linhart

13:25 - 13:40 • ECG Mehdi Namdar

13:40 - 13:55 • MRI – current and further perspectives James Moon

13:55 - 14:10 • The role of genetic testing in the diagnosis of hypertrophic cardiomyopathy

Perry Elliott

14:10 - 14:30 • Is an endomyocardial biopsy always necessary in patients with cardiac involvement?

Franco Cecchi

14:30 - 14:50 • What is the impact of CV disease on long-term morbidity and mortality?

Frank Weidemann

14:50 - 15:30 • Panel discussion

15:30 - 16:00 Coffee / tea break – poster viewing

Session 2 NeurologyChairs: Max Hilz & Ulla Feldt-Rasmussen

16:00 - 16:20 • Is presence of neuropathic pain in males enough to decide on ERT?

Juan M. Politei

16.30 - 16.40 • Is presence of abnormal MRI enough to decide on ERT? Nurcan Üçeyler

16:40 - 17:00 • Do we have evidence that ERT can prevent or revert cerebrovascular complications?

Alessandro Burlina

17:00 - 17:30 • Panel discussion

17:30 - 18:00 Late breaking newsChair: Dominique Germain

18:00 Wrap up and close Day 1 Ulla Feldt-Rasmussen David G. Warnock

18:30 - 19:30 Poster viewing 19:30 Dinner

Day 1 Friday 21st March 2014

08:00 - 08:10 Welcome Day 2 Ulla Feldt-RasmussenDavid G. Warnock Giovambattista Capasso

Session 3 Nephrology Part I - Focus on the podocyte   

Chairs: Eric Christensen & Hans Peter Marti

08:10 - 08:30 • Acute and chronic podocyte responses to injury Janos Peti-Peterdi

08:30 - 08:50 • Podocyte homeostasis in health and proteinuric disease Tobias Huber

08:50 - 09:10 • Morphometric analyses of podocyte injury in Fabry renal biopsies

Michael Mauer

09:10 - 09:30 • Podocyte signaling in Fabry disease Alberto Ortiz

09:30 - 10:00 • Panel discussion

10:00 - 10:30 Coffee break - poster viewing

Nephrology Part II - Starting ERTChairs: Derralynn Hughes & Renzo Mignani 

10:30 - 10:50 • Intervening early in Fabry disease: base-line data of the FIELD study and an overview of current protocols

Frits Wijburg

10:50 - 11:10 • Starting ERT: the pediatrician’s perspective Camilla Tøndel

11:10 - 11:30 • Starting ERT: the nephrologist’s perspective    Einar Svarstad

11:30 - 12:00 • Panel discussion

12:00 - 13:00 Lunch

Session 4 Lyso-GL3 & biomarkersChairs: Joao Paulo Oliveira & Christoph Wanner

13:00 - 13:15 • Introduction Kevin Mills

13:15 - 13:35 • Functional classification of alpha galactosidase mutations

Arndt Rolfs

13:35 - 13:55 • Mass spectrometry analysis of novel lyso-Gb3 analogues

Christiane Auray-Blais

13:55 - 14:15 • Plasma lyso-GL3 analogues; response to dose of ERT (INFORM Study)

John Barranger

14:15 - 14:45 • Panel discussion

Session 5 Poster Awards Session14:45 - 15:05 Announcement of winners Poster Awards Dominique Germain

15:05 - 15:15 Meeting wrap up and symposium close Ulla Feldt-Rasmussen David G. Warnock

Day 2 Saturday 22nd March 2014

Scientific Committee:

Prof. Ulla Feldt-Rasmussen, Copenhagen University Hospital, DenmarkProf. David G. Warnock, University of Alabama, USADr. Alessandro Burlina, St. Bassiano Hospital, ItalyProf. Perry Elliott, The Heart Hospital, United KingdomProf. Ales Linhart, Charles University, Czech Republic Prof. Alberto Ortiz, Fundacion Jimenez Diaz Ute, Spain Dr. Juan M. Politei, Juan Fernandez Hospital, ArgentinaProf. Einar Svarstad, Haukland University Hospital Bergen, NorwayProf. Frits Wijburg, Academic Medical Centre, The Netherlands