Global Approaches for Rare Diseases
and Orphan Products
4th International Conference on
Rare Diseases and Orphan Drugs
Washington DC, May 20–22, 2008
Tuesday May 20
Capitol Hilton Hotel
1001 16th Street, NW, Washington DC
07:30 - 08:30 Registration
Sessions I - V In Conjunction with NORD Corporate Council
08:15 - 08:30 I. Introductions and Welcome:
Jan–Inge Henter, Karolinska Institute, Sweden
Domenica Taruscio, Istituto Superiore di Sanita, Italy
Peter Saltonstall, NORD, USA
Stephen Groft, ORD, NIH, USA
08:30 - 09:30 II. Facilitating Cooperative Efforts of the Regulatory Processes:
Progress on Collaborative Regulatory Requirements for the Orphan Product Designation Process between
OOPD/FDA, USA and COMP/EMEA, Europe
Discussion Leaders: Tim Cote, Office of Orphan Products Development, FDA,
USA and Kerstin Westermark, European Union Committee on Orphan Medicinal
Products (COMP), Medical Products Agency, Sweden
Alex Kuta, Genzyme
Catarina Edfjäll, Celgene
Nikhil Mehta, Shire HGT
Jordi Llinares-Garcia, EMEA, UK
09:30 - 11:45
III. Linking Academic Discoveries and Industry Product Development Strategies
Discussion Leaders: Maria Wästfelt, Karolinska Institutet, Sweden and Barbara
Wuebbels, BioMarin, USA
Evaluation of Dietary Supplements for the Treatment of Inborn Errors of Metabolism – Paul Coates,
Office of Dietary Supplements. NIH, USA
Rapid Access to Interventional Development (The RAID Pilot Program) at NIH – Dr. David
Badman, Office of the NIH Director, USA
The Use of Antidotes in Hospitals and Communities, Supply Issues, and Emerging Research Needs.
Gregory M. Bogdan, Rocky Mountain Poison & Drug Center, Denver, CO, USA
E–Rare Project – Igor Beitia Ortiz de Zarate, INSERM Paris, France
Licensing of Rare and Neglected Diseases Discovery Project – Bonny Harbinger, NIH, USA
Activities at the Academic Research Centers: Identifying Present Activities ans Future Opportunities –
Jim Cloyd, School of Pharmacy, University of Minnesota and Matt Reed, Keck
Graduate Institute, USA
10:30 - 11: 00 Coffee Break
11:45 - 12:45 IV. Linking Patients to Research Programs and Treatment Centers
Suggested Discussion Leaders: Yann Le Cam – EURORDIS, Paris, France and
Jorge Braier, Buenos Aires, Argentina
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Experirnces in Recruting Patients for Clinical Trials – Stuart Peltz. PTC
Therapeutics
NIH Rare Diseases Clinical Research Network – Rachel Richesson, Rare Diseases
Clinical Research Network Tampa FL, USA
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Undiagnosed Diseases – William Gahl, NHGRI, NIH, USA
Experiences with Langerhans Cell Histiocytosis – Jorge Braier, Argentina
12:45 - 13:45
Lunch
13:45 - 15:00
V. Research Methodology and Statistical Analyses for Trials of Rare Diseases and
Orphan Products – Strength of Evidence: How Much Evidence is Necessary –
Simon Day, Roche Products, United Kingdom
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Reliability of Diagnosis
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Relevance of Historical Controls
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Appropriate Endpoints
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Severity of Disease
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Size of Benefit
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Measurements of Safety
Discussants: Jordi Llinares Garcia, EMEA, UK, Annalisa Trama, ISS, Italy, Frans
Ueckert, Germany, and Tim Cote, OOPD, FDA
15:00 - 15:15
Coffee Break
15:15 - 16.30
VI. Stimulating Awareness and Research on Rare Diseases and Orphan Products
Through the Media – Amy Marcus, Wall Street Journal and Abbey Meyers, NORD
Panel Discussion on Information Needs – Arnd Brauer, ACHSE, Germany, Caren
Anstein, Genzyme, and Virginia Llera, GEISER Foundation, Mendoza, Argentina
16:30 - 17:00
18:30
VII. Rare Diseases Research Activities at the NIH
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After the Human Genome Project: Applying Genomics to Health – Alan E. Guttmacher,
M.D., Deputy Director, NHGRI, NIH
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The NIH Office of Rare Diseases: Current and Future Activities – Stephen Groft, NIH,
USA
NORD Annual Tribute Banquet and 25th Anniversary Celebration of the Orphan
Drug Act (NORD Pre–registration Required) Union Station Washington, DC
Wednesday, May 21
Hamilton Crowne Plaza Hotel
100114th street, NW, Washington DC
08:00 - 08:45 VIII. WHO International Classification of Diseases and Rare Diseases Emphasis
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WHO ICD–X and ICD X–CM Update and Revision Process – David
Berglund, National Center for Health Statistics, Centers for Disease
Control and Prevention, Hyattsville, MD
ICD XI Revision Process and Rare Diseases Topic Advisory Group –
Segolene Ayme, Orphanet and INSERM, Paris France
08:45 - 10:00 IX. The Value and Need for International Collaboration
Discussion leaders: Marlene Haffner, Amgen, Washington, DC, USA and Josep
Torrent y Farnell, COMP, Spain
Speakers:
 Fogarty International Center, NIH, USA – Roger Glass (Invited)
 Report from Latin American Congress (ER2008LA) – Emilio Roldan,
GEISER Foundation, Buenos Aires, Argentina
 Neglected Diseases – Louis Alejandro Barrera Avellaneda, Colombia
 Policies for Orphan Drugs in the World – Alice Pomponio, Genzyme
10:00 - 10:15
Coffee Break
10:15 - 11:45
X. A Global Look at Policy Initiatives for Rare Diseases Research and Orphan
Products – Current Activities and Future Needs (2 Panels of 45 minutes each)
Discussion Leaders: Manuel Posada, Spain, Rumen Stefanov, Bulgaria and
Domenica Taruscio, Italy
PANEL A. Global policy needs and what is being done? What systems and
infrastructure are needed in the future to ensure the advances in therapies translate into
improved health for people with rare disease?
Sonja van Weely, the Netherlands
Howard Yuwen, Senior Director of Regulatory Affairs, Shire HGT,
Antonio Carlos Bezerra, ANVISA, Brazil (Invited)
Panel B. National Plans for Rare Diseases Research and Orphan Products
Development
France – Segolene Ayme (Invited)
Italy – Domenica Taruscio, ISS
Portugal – Jose Robalo, Director General of Health
11:45 - 13:00
XI. Genetic Testing and Screening Approaches
Discussion Leaders: Joe Boone CDC, Atlanta and Domenica Taruscio, Italy

Gene Tests: State of the Art and Current Projects – Bonny Pagon, Seattle,
WA, USA
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EuroGenTest/Orphanet Database: New Services – Segolene Ayme,
INSERM and Orphanet, France
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Genetic Reference Material Lisa Kallman, CDC, Atlanta, USA
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How Can Patients Help Genetic Testing – Sharon Terry, Genetic Alliance,
Washington, DC, USA
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Expanding the CETT Genetic Test Development Program – Giovanna
Spinella ORD, NIH, USA and Andy Faucett, CDC, Atlanta, GA, USA
13:00 - 14:00
Lunch
14:00 - 15:15
XII. Meeting Patient and Family Needs Across the Lifespan – Psychological and
Social Support Programs
Discussion Leaders: Diane Dorman, NORD, USA and Anders Olauson, Ågrenska
Academy, Sweden
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Vicky Whittemore,Tuberous Sclerosis Alliance, Baltimore, USA
John Forman, New Zealand Organization for Rare Disorders (NZORD)
Arnd Brauer, ACHSE, Germany
Marco Magri, Consulta, Rome Italy
Virginia Llera, GEISER Foundation, Mendoza, Argentina
There are universal challenges/issues for patient and families e.g. How to
communicate with your family about you/ your child’s condition? How to
advocate for your child at school?
Are we sharing these approaches to services internationally and across disease
communities or is each disease community creating there own? Identify
opportunities for collaboration to meet the patient needs across the lifespan in a
more efficient and effective way.
15:15 - 15:30
Coffee Break
15:30 - 16:45
XIII. Gaining Access to Information on Rare Diseases and to Orphan Products:
Policy Issues and Needs
Discussion Leaders: Yann Le Cam and Erik Tambuyzer
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Erik Tambuyzer Genzyme – Pharmaceutical Industry Perspective
Yann Le Cam, Eurordis – The Role and Value of Help Lines
Sharon Terry – Experiences of the Genetic Alliance
Mary Dunkle – Experiences at NORD
Janine Lewis, Genetic and Rare Diseases Information Center (NHGRI and
ORD, USA) – Future Directions
Annalisa Trama, ISS, Italy
16:45 - 17:00
Introduction of Parallel Working Group Sessions for May 22
Discussion Leaders: Desiree Gavhed and Manuel Posada
17:00 - 18:00
Poster Session
18:00 - 19:30
General ICORD Assembly Membership Meeting
President: Jan–Inge Henter
Thursday, May 22
Hamilton Crowne Plaza Hotel
100114th street, NW, Washington DC
8:30 - 10:30
XIV. Parallel Working Group Sessions, Workshops on Planning Future Activities
and to Determine Future Needs, Goals, Venues and Implementation Mechanisms
Panel 1
Group Leaders: Marlene Haffner and Josep Torrent y Farnell
WG I: Gaining Regulatory Approval: Establishing and Meeting Regulatory
Requirements
WG III: Access to Rare Diseases Research and Orphan Products Development
Assessment Tools: Possibilities Restrictions, and Solutions
Topic Discussion Leaders: Erik Tambuyzer (Genzyme), Tim Cote (OOPD/FD,
USA), Kerstin Westermark (COMP, EU), Larry Friedman (NIH, USA), Wolfgang
Köpcke (Germany), and Simon Day (Roche)
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FDA/EMEA Gaining Acceptance of Clinical Trials Results With Small Patient
Populations: Guidance and Guidelines – Larry Friedman and Tim Cote
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Personalized Medicine: Viewing Product Approval Through Mechanism of Action
vs. Disease State – Marlene Haffner
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The Precursor Role of Rare Diseases into the Use of Pharmacogenetics Leading
to the Concept of Personalized Medicine – Discussion
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Gaining Access to Approved Orphan Products – Discuss sustainability of current
systems between product approval and physicians gaining access to approved
treatment for patients: current business models and current healthcare systems –
Erik Tambuyzer
Panel 2
Group Leaders: Barbara Wuebbels and Jim Cloyd
WG II: Product Discovery and Development: Linking the Academic Research
Community to the Pharmaceutical and Biotechnology Industries

Activities at the Academic Research Centers: Identifying Present Activities
and Future Opportunities – Jim Cloyd, School of Pharmacy, University of
Minnesota and Matt Reed Keck Graduate Institute, California, USA

Venture Capitalist Support for Orphan Products Development – Discussion
and Planning for Future Meetings
Panel 3
Group Leaders: Diane Dorman and Anders Olauson
WG IV: Recruiting Patients for Clinical Research Studies and the Value of
International Collaboration
WG VI: Patient and Family Needs Across the Lifespan: the Value of International
Collaboration
WG VII: Rare Diseases Research and Orphan Products Development Activities:
Expanding the Informational and Geographical Boundaries
Discussants: Anders Olauson, John Forman, Diane Dorman, Sharon Terry and
Arnd Brauer
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The Role of Patient Organizations as an Advisory Council at the National Level –
Domenica Taruscio, Italy
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Standards of Care for Treatment of Rare Diseases
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The Future Role of Information Centers and Help Lines
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Newborn Screening – John Adams, Canada and Sara Collins, Genzyme and
HRSA, USA
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The Need for Standardization of Patient Registries – Goals and Requirements
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Do Patients and Families Understand the Information They Obtain from Sources
of Rare Diseases and Orphan Products? Are They Able to Make Informed
Decisions Based on this Information?
Panel 4
Group Leaders: Joe Boone and Lisa Kallman, CDC, USA
WG V: Genetic Testing for Rare Diseases in International Settings –
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Genetic Reference Materials, Clinical Validity and Utility of Genetic Tests
and Genetic Test Standards – Joe Boone and Lisa Kalman
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Expanding CETT Programs – Andy Faucett, Giovanna Spinella, and Stuart
Hogarth
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Use of Standardized Mutation Nomenclature in Genetic Test Results Reporting
and Databases – Joe Boone
08:30 - 10:45 Continuous Coffee Break Available Throughout the Morning
10:45 - 11:45
XV. Responses from Panels and Working Groups
(10 Minutes each and 5 Minutes of Questions from Audience)
Discussion leaders: Désirée Gavhed and Manuel Posada
11:45 - 12:15
XVI. Open Group Discussion/New Issues Forum
Discussion leaders: Stephen Groft, Yann Le Cam, Jan-Inge Henter
12:15 - 12:30
XVII. Closing Session – Summary of Meeting
Stephen Groft, Jan-Inge Henter, Domenica Taruscio
Future Meeting
 2009
12:30
XVIII. Adjourn