Orphan Diseases 
Event Information
Document Title
Agenda
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Day One Thursday, February 5, 2009 | DAY ONE | DAY TWO | | |
| 8:30 | Morning Coffee and Conference Registration |
| 9:00 | Conference Opening Remarks |
| 9:10 | Chairperson & Introductory Discussion Orphan diseases are conditions that affect no more than 5 in 10,000 people in the EU or less than 200,000 in the United States. Drug development for these diseases has been limited due to factors such as high development costs coupled with small markets. The US Orphan Drug Act from 1983 has significantly stimulated orphan disease drug development, yet the unmet medical need is still very high. Georg C. Terstappen, PhD, adj. Prof., Chief Scientific Officer, Siena Biotech S.p.A., Italy |
| Opening Address | |
| 9:30 | Virtual Biotechs: Collaborating for Cures 25+ million patients and their families suffer from over 6,000 orphan diseases that are currently uneconomical to address. The time is ripe for a radically different approach that leverages collaboration and the internet to enable small teams of researchers to cost effectively develop new therapies and get them rapidly to patients. Virtual Biotechs exploit innovative research, clinical and business strategies to slash the time and costs of drug development so that a small group of patients with a rare disease can fund the development of a new therapy in time to save their own lives. Jay M. Tenenbaum, Chairman and Chief Scientist, CollabRx Inc. |
| 10:15 | Networking Refreshment Break |
| Research and Discovery Approaches to Orphan Diseases | |
| 10:45 | Examining and Understanding Common Orphan Disease Mechanisms The number of existing orphan diseases has been estimated between 5,000 - 8,000. These diseases affect up to about 8% of the population or about 30 million people in Europe and about 25 million people in North America. As it would be unrealistic to assume that specific therapies for all can be developed, the understanding of common disease mechanisms is important. Georg C. Terstappen, PhD, adj. Prof., Chief Scientific Officer, Siena Biotech S.p.A., Italy |
| 11:15 | Uncovering New Therapeutic Angles for Orphan Diseases through Phenotypic Screening A striking feature hindering the effective drug development for orphan disease like Duchenne Muscular Dystrophy or Myotonic Dystrophy is the conspicuous lack of validated drugable targets. This presentation will highlight some approaches leveraging GNF's small molecule and functional genomics uHTS capabilities to identify, validate and modulate new therapeutically relevant targets and identify viable lead molecules for the treatment of genetic muscle disorders. Achim Brinker, Ph.D., Associate Director, Lead Discovery, Genomics Institute of the Novartis Foundation |
| 11:45 | Approaches to Drug Discovery in Huntington's Disease: from HTS to Biomarkers A polyglutamine expansion in the huntingtin protein leads to the formation of toxic fragments and aggregates and ultimately causes Huntington's disease. Drugs modulating huntingtin folding and degradation have potential for disease-modifying therapeutics. We established screen assays for chemical and genetic modifiers of huntingtin expression. Lead candidates are profiled in robust neuronal models of huntingtin toxicity. Newly developed detection methods for soluble and aggregated huntingtin drive validation of advanced drug candidates and allow assessing the relevance of huntingtin as a disease or pharmacodynamic biomarker. Paolo Paganetti, Ph.D., Project Team Head, Neuroscience Discovery, Novartis Pharma AG, Switzerland |
| 12:15 | Moving from Target into New Drug Development for Orphan Diseases With the completion of the Human Genome Project, the rate of identification of genetic causes of orphan diseases has accelerated dramatically. This has presented the opportunity - and indeed, the imperative - to address the systematic requirements for moving these basic discoveries into the translational, and ultimately therapeutic, arena. In the last five years, public sector chemical genomics initiatives such as the NIH Molecular Libraries Program (MLP) have provided academic and nonprofit orphan disease researchers access to small molecule assay development, screening, and medicinal chemistry technologies of a scale and sophistication previously only present in the pharmaceutical sector. The NIH Chemical Genomics Center (NCGC), an ultrahigh-throughput screening and chemistry center that is a founding member of the MLP, discovers chemical probes of gene and cell functions and starting points for drug development for orphan diseases using its titration-based quantitative high throughput screening (qHTS) paradigm. The combination of academic disease domain expertise with screening, cheminformatics, and chemistry at the NCGC presents a dramatically new vista for understanding and treating rare, orphan, and neglected diseases. Christopher Austin, M.D., Director, Chemical Genomics Center, National Institutes of Health |
| 12:45 | Networking Luncheon |
| The Science & Safety of Orphan Disease Clinical Trials | |
| 1:40 | Chairperson & Introductory Discussion Successful orphan disease research and development programs require significant contributions from many groups such as the NIH and the FDA, the academic research community, the pharmaceutical, biotechnology, and medical devices industries, and many more. Research of rare diseases and the development of orphan products have also evolved to become a global effort with multi-national research activities in Europe, Latin America and Asia. A global approach to the development of products from basic research discoveries to clinical trials to regulatory frameworks will be discussed. Stephen Groft, Director, Office of Rare Diseases, National Institutes of Health |
| 2:00 | Heightening Awareness of the Science of Small Clinical Trial Design and Analysis among FDA Review Division Personnel Paramount among the concerns of regulatory agencies such as FDA and EMEA is that rigorous scientific methods be used to ensure that drugs and devices be as safe and effective as possible within their target populations; this is achieved via the modern randomized controlled clinical trial. In orphan disease communities, study populations may be very small compared to those employed for the study of widely prevalent disorders. The FDA's Office of Orphan Products Development and NIH's Office of Rare Diseases are together offering a course on the scientific challenges of small-scale clinical trials, which draws upon a wealth of experience within FDA and the literature, as well as an Institute of Medicine (IOM) monograph from 2001. There is more experience within FDA with small trials than may be generally appreciated, though it has been largely confined to a few specific disease categories. The course draws upon clinical and statistical authorities from within and outside of FDA/NIH, and employs computer networking technology to facilitate continued participation by internationally-distributed lecturers for the duration of the month-long course. We will review the content and results of the course, and plans for the future. R. P. Channing Rodgers, M.D., Medical Officer, Office of Orphan Drug Development, US FDA |
| 2:30 | Challenges of Designing and Conducting a Late Phase Clinical Trial in a Rare Disorder Clinical trials in rare disorders present multiple challenges, including identifying principal investigators and encouraging clinicians to refer their patients. When the study drug represents the first potential treatment there are the added challenges of identifying clinical endpoints, gaining consensus for their use, and finding study sites with trial experience. Working with patient advocacy groups can assist in meeting these challenges. Leone Atkinson, M.D., Ph.D., Senior Medical Director of Clinical Development, PTC Therapeutics |
| 3:00 | Technology Workshop IBC's Technology Workshops offer supplier companies the opportunity to present product or service offerings directly to the audience at this conference. For more info on presenting please contact Kristen Schott at 508-614-1239 or kschott@ibcusa.com. |
| 3:30 | Networking Refreshment Break |
| 4:00 | Facilitating Clinical Trials – What Academic Networks Can Offer Abstract to come. Bernhard Landwehrmeyer, Ph.D., CEO, European Huntington Disease Network, Germany |
| Audience Interactive Panel Discussion | |
| 4:30 | The Future of Orphan Disease Clinical Trials Moderator: Stephen Groft, Director, Office of Rare Diseases, National Institutes of Health Panelists: R. P. Channing Rodgers, M.D., Medical Officer, Office of Orphan Drug Development, US FDA Bernhard Landwehrmeyer, Ph.D., CEO, European Huntington Disease Network, Germany Leone Atkinson, M.D., Ph.D., Senior Medical Director of Clinical Development, PTC Therapeutics |
| Keynote Presentation | |
| 5:00 | Orphan Disease R&D: Enzyme Replacement Therapy – Conception, Chaos and Culmination Research on orphan diseases has led to highly significant discoveries concerning the abnormal enzymology that causes these conditions, the invention of facile diagnostic and pre-natal detection procedures, and the development of extraordinarily beneficial enzyme replacement therapy for patients with lipid storage disorders. The latter accomplishment is especially pertinent for patients with Gaucher disease, the most prevalent hereditary metabolic storage disorder of humans. It reverses the pathological manifestations of this condition and, except for the minor inconvenience of a bi-weekly infusion of the therapeutic enzyme, enables patients to lead essentially normal lives. Roscoe O. Brady, M.D., Scientist Emeritus, National Institute of Neurological Disorders and Stroke, NIH |
| 5:30 | Networking Cocktail Reception |
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Day Two Friday, February 6, 2009 | DAY ONE | DAY TWO | | |
| 8:30 | Chairperson Introductory Discussion This session addresses the issues and problems surrounding the development of orphan products. The US Orphan Drug Act (ODA) has been touted as one of the most successful laws passed in the last 2 decades of the 20th century. However, in the 25 years since passage of the ODA there are many diseases and issues yet to be conquered. During this session we will hear both the how to's and the problems encountered by drug developers in this most important area of medicine. Marlene E. Haffner, M.D., MPH, Executive Director, Global Regulatory Intelligence and Policy, Amgen, Inc. |
| Keynote Presentation | |
| 8:45 | A Sustainable Future for Orphan Treatments: Implications for Policy and Practice The fundamental characteristics of orphan diseases, such as the lysosomal storage disorders (LSD), should guide medical practice and health policy. The LSDs are notable for being rare, life-threatening, complex, chronic and progressive. For medical practice, these characteristics imply the need for centers of excellence, the importance of registries to understanding epidemiology and treatment outcomes, and the necessity of early diagnosis and intervention coupled with a chronic disease management approach. For health policy, the characteristics of LSDs imply the need for orphan drug policies to create incentives for drug development, the importance of policies to ensure early and sustained access to treatment, and the value of expert input and registry data to guide policy decisions. In both practice and policy, registries can and should play a central role. When practice and policy are guided by the fundamental characteristics of orphan diseases, a sustainable future can be created for orphan treatments. John Yee, M.D., MPH, Vice President, Global Medical Affairs, Genzyme Corporation |
| Drug Development Approaches for Orphan Diseases | |
| 9:30 | Overcoming Drug Developmental Challenges While Orphan Drug Programs in the US and EU have provided meaningful incentives to the development of products for the treatment of rare diseases, challenges continue in drug development for the discovery, development, and maintenance of each orphan drug. Little is known about the natural history of many of these diseases. Patients are not easy to find and multinational trials are almost a given. There are few animal models of most of the diseases and those that exist are imperfect. As the natural history is not known, what are meaningful endpoints is also not known. Values of the meaning of treatment vary betweens cultures. During this session, issues will be discussed which challenge the investigator, patient, ethicist and pharmaceutical sponsor as treatment is sought for the more than 6 000 known rare diseases. Marlene E.Haffner, M.D., MPH, Executive Director, Global Regulatory Intelligence and Policy, Amgen, Inc. |
| 10:00 | Technology Workshop IBC's Technology Workshops offer supplier companies the opportunity to present product or service offerings directly to the audience at this conference. For more info on presenting please contact Kristen Schott at 508-614-1239 or kschott@ibcusa.com. |
| 10:30 | Networking Refreshment Break |
| 11:00 | Ensuring Successful FDA Approval for Orphan Drugs Abstract to come. Amy Waterhouse, Ph.D., Vice President, Regulatory Affairs, BioMarin Corporation |
| 11:30 | Legal, Government and IP Challenges of Orphan Diseases Intellectual Property (IP) protection, particularly patent protection is often central to economic success. Many orphan disease companies are developing IP strategies with the goal of creating barriers to competitors, however disclosure of patents promotes technological exchange and knowledge sharing. Patents and orphan drug protections provide complementary protection for biomedical research and clinical development. Opportunities for obtaining and maximizing patent protection and tools to overcome legal, government challenges will be discussed. Janet McNicolas, Ph.D., J.D., Partner, Bell, Boyd & Lloyd, LLC |
| Featured Presentation | |
| 12:00 | Comparing and Contrasting FDA/EMEA Regulations & Processes Regarding Orphan Status Designation Abstract to come. Rembert Elbers, Ph.D., Head, Oncology, BfArM, Distinguished Member, Committee on Orphan Medicinal Products, EMEA |
| 12:45 | Networking Luncheon |
| Orphan Disease Business and Partnering Strategies | |
| 1:40 | Chairperson & Introductory Discussion A host of innovative business and partnering strategies are transforming the economics of therapy development to work for orphan diseases. They include new sources of capital (e.g., obtaining funding from patients v. professional investors), new funding models (e.g., prizes and venture philanthropy v. grants); new collaborative business models (e.g., Virtual biotechs, private/public partnerships), new incentives that promote collaboration and urgency (e.g., pooling intellectual property), and consortia that provide unprecedented economies of scale by promoting the sharing of data, materials and services under standardized terms and conditions (e.g., Health Commons, Critical Path Institute). Jay M. Tenenbaum, Chairman and Chief Scientist, CollabRx Inc. |
| 2:00 | NORD Company Mentoring Strategies for Success As the pharmaceutical and biotechnology industries increasingly turn their attention to development of orphan products, NORD has played a key role in educating companies about the needs of the rare disease community and the specific challenges and opportunities of this niche market. Through its Corporate Council and other mentoring strategies, NORD provides an introduction to orphan product development from the patient perspective for companies of all sizes. Peter Saltonstall, President and Chief Executive Officer, The National Organization for Rare Disorders (NORD) |
| 2:30 | Philanthropy and Orphan Disease Organizations Building a philanthropic program is an important aspect of a company's growth strategy from a variety of perspectives and can be incorporated from the early stages, even when cash is tight and product launch has yet to happen. Explore charitable giving, including volunteer and in-kind services, building patient community relationships and corresponding contribution budgets and a review method that can help expedite the process. Jayne Gershkowitz, Director, Patient Advocacy & Public Policy, Amicus Therapeutics, Inc. |
| 3:00 | Networking Refreshment Break |
| 3:30 | Role of Support Groups for Orphan Diseases and Pharma Orphan drugs and devices treat a limited number of patients. To ensure the involvement of all potential patients, the early development of strong partnerships between patient support groups and orphan drug/device developers is critical. It can lead to a better understanding of the natural history of the disease, enrollment of patients in clinical trials, and preparation of the market for a successful drug launch. Barbara H. Wuebbels, R.N., M.S., Manager, Medical Affairs and Investigator Relations, BioMarin Corporation |
| 4:00 | Partnering With Foundations – Benefits and Expectations Patient advocacy organizations are investing millions every year in for-profit companies developing therapeutics for conditions of interest and the trend is growing. At a time when traditional venture capital is drying up, these patient organizations can be a lifeline for young companies. A better understanding on both sides of expectations and value added will make these opportunities even more rewarding. Sharon Hesterlee, Ph.D., Senior Vice President and Executive Director, MDA Venture Partners |
| Audience Interactive Panel Discussion | |
| 4:30 | Overcoming Orphan Disease Business Challenges In this panel discussion we will present some common business challenges, and discuss strategies used to overcome them including partnering with Foundations and Non-Profits. Conference participants will have the opportunity to add their experiences and to present challenges to the group for discussion and comment. Moderator: Patti A. Engel, President and CEO, Engage Health, Inc. Additional panelists to be announced. |
| 5:00 | End of Conference |
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