Pre-conference tutorials

Pre-conference tutorials will take place on Thursday 8 May, 2014 from 14:30-17:00

Tutorial 1


Tutorial Instructors:
Josie Godfrey, Associate Director, Highly Specialised Technologies, National Institute for Health and Care Excellence (NICE), UK
Elena Nicod, Research Officer, LSE Health and Social Policy, London School of Economics, UK
Ana Palma, Associate Director Market Access & Public Affairs, Shire Human Genetic Therapies, Belgium

Health Technology Assessment is a multidisciplinary process that summarises information about the medical, social, economic and ethical issues related to the use of a health technology in a systematic, transparent, unbiased and robust manner. Its purpose is to guide policymakers to make decisions on the adoption of new and existing technologies. This tutorial will introduce the participant to the principles of health technology assessment, describe the methods of economic evaluation, illustrate the unique circumstances surrounding rare disease evidence, provide an overview of the different approaches for assessing rare disease drugs across countries and discuss other factors which may contribute to funding decisions.

Learning Objectives:
At the conclusion of this tutorial, participants will have a better understanding of:
• HTA in order to contribute and engage more effectively in future assessments of medicines for rare diseases.
• Have an understanding of the principles and process of health technology assessment. The focus being on the various approaches and application to rare diseases
• Gain knowledge and skills in how various stakeholders, particularly patient organizations can contribute and engage in the process of HTA

Target Audience:
Those with limited/ no technical understanding or experience of health technology assessment as related to rare diseases. Participants from patient organisations, government agencies, other non-profit organisations and industry are encouraged to attend.

Tutorial 2


Tutorial Instructors:
Lucia Monaco, Chief Scientific Officer, Fondazione Telethon, Italy
Peter Robinson, Professor of Medical Genomics, Institute of Medical and Human Genetics, Charité, Universitatsmedizin Berlin, Germany

Despite many examples of excellent practice, rare disease research is still mainly fragmented by data type and by disease. Individual efforts have little interoperability and almost no systematic connection of detailed clinical information with genetic information, biomaterial availability or research/trial datasets. By developing robust mechanisms and standards for linking and exploiting these data, RD-Connect will develop a critical mass for harmonisation and provide a strong impetus for a global “trial-ready” infrastructure ready to support the IRDiRC goals for diagnostics and therapies for rare disease. During this tutorial, participants will gain a greater appreciation of the aims and objectives of RD-Connect and how different users e.g. patients/patient representatives, researchers and industry can best utilise the platform. Specifically, we will discuss topics such as the integration of bioinformatics tools, registries and biobanks into the platform, and also the legal, ethical and regulatory issues that need to be considered.

Learning Objectives:
• Gain a greater understanding of the aims and objectives of the RD-Connect platform.
• Learn how the RD-Connect platform can be utilised by different groups of individuals, e.g.
                         - How to set up and manage a registry or a biobank for a disease
                         - How to utilise RD-Connect to study rare disease biospecimen
                         - How to utilise RD-Connect to plan a rare disease trial
                         - How to analyse exomes for rare disease diagnostics and novel gene discovery

Target Audience:
This tutorial will be of interest to all those working in the rare disease field who would like to learn more about the RD-Connect platform, in particular clinicians, researchers, patient advocacy groups and industry.

Tutorial 3


Tutorial Instructors:
Cristina Csimma, TACT Core Group Member, Cydan Development, USA
Dominic Wells, TACT Chair, Royal Veterinary College, UK
Ralf-Dieter Hilgers, IDeAl coordinator, Department of Medical Statistics, RWTH Aachen University, Germany

Part 1
Clinical trial design for small sample population groups
Ralf-Dieter Hilgers, IDeAl coordinator, Department of Medical Statistics, RWTH Aachen University, Germany

There is a pressing need to integrate a broad range of innovative methodologies improving clinical trials in the setting of small sample population groups (SPG). The objective of the IDeAl project is to produce methods of general applicability irrespective of indication by Integrated DEsign and AnaLysis of clinical trials in SPG through a multidisciplinary closely collaborating consortium of researchers from European universities, research institutes and industry. By combining, enhancing and developing different statistical methodologies and assessment methods, this research programme will impact the scientific discussion in promoting efficient statistical methodology for clinical trials in SPG, also in view of existing regulatory guidance in the EU. This tutorial will stimulate this discussion by relating our research to known design settings. The IDeAl project received funding from the European Union’s Seventh Framework Programme for research, technological, development and demonstration under Grant Agreement no 602552.

Learning Objectives:
Attendees will:
• Gain knowledge in some specific design and analysis challenges of clinical trials for small population groups
• Understand the importance of appropriate design and analysis of small population group trials

Target Audience:
This tutorial will be of interest to all stakeholders who would like to hear more about the design challenges in small population group trials, which will be solved by the IDeAl project. This includes clinicians, researchers, patient advocacy groups and industry. 

Part 2
TACT, the TREAT-NMD Advisory Committee for Therapeutics
Dominic Wells, TACT Chair, Professor in Translational Medicine, Royal Veterinary College, UK
Cristina Csimma, TACT Core Group Member, CEO, Cydan Development, USA

TACT, the TREAT-NMD Advisory Committee for Therapeutics, is an expert multidisciplinary body that provides the neuromuscular community (clinicians, researchers, patient advocacy groups and industry) with independent and objective guidance on advancing new therapies (whether novel or repurposed) for neuromuscular diseases. During this tutorial we will share our experience in advising on the drug development pathway for neuromuscular diseases diseases and explain how this could be exported as a model for other rare diseases.

Learning Objectives:
Attendees will:
• Gain a greater appreciation of how TACT reviews act as a constructively critical and educational resource for researchers and drug development sponsors evaluating research programs with a translational goal toward entry into clinical trials in neuromuscular diseases.
• Understand the value of a TACT review and how it can be utilised in a wider context including funding.

Target Audience:
This tutorial will be of interest to all those who would like to hear more about the TACT model to guide development of therapies for rare diseases, in particular clinicians, researchers, patient advocacy groups and industry.

Tutorial 4

Tutorial Instructors:
Virginie Hivert, Orphanet Pharmaceutical Affairs & Expert Resources Team Manager, Orphanet–Inserm, France
Sandra Peixoto, Orphanet Resources Expert Team, Orphanet-Inserm, France

Over the years, Orphanet has developed a broad range of products which are of use for different purposes and/or different types of users. Apart from the information displayed through the website which is now quite well-known, emphasis can be put for example on: review articles that are produced or indexed to the classification of diseases; Orphanews, the newsletter which offers scientific, as well as political, literature survey; the documents of synthesis called ‘Orphanet Report Series’ dedicated to highlight a specific topic. Resources have also been put on providing the data in a re-usable format in order to foster the interoperability and analysis capacity. This could be useful for research or R&D purposes, as to identify gaps and opportunities in the field of RD, but also in the public health sector, as for example with the OrphaCode which is more and more inserted in the national healthcare information systems. This tutorial is made to show you our current portfolio, how you could contribute to improve its quality and the coverage of data collected and produced by Orphanet and how we could help you to make the best use of this data for your own project.

Learning Objectives:
At the conclusion of this tutorial, attendees will:
• Have a comprehensive view of the broad range of products/data provided by Orphanet
• Acquire insight on how to use the Orphanet data for different purposes (advocating, public health, research and development strategy…)
• Initiate partnership/sponsorship/collaboration between your organization/company and Orphanet

Target Audience:
• Pharmaceutical and Biotech companies: Public Affairs and Research
• Academia and Health Authorities may also be interested, Academia and Health Authorities looking for collaboration with Orphanet