Orphan Drugs

Elizabeth Hernberg-Stahl, M.Sc, is founder of Late Phase Solutions Europe AB, based in Sweden; it is an independent consultancy focusing on providing strategic and operational guidance on late phase drug development as well as guidance on processes and activities related to orphan drug development and market access. The author has more than thirty years experience from the international biotech and pharmaceutical industry (20 of which were in the orphan drugs area). During her 10 years at TKT/Shire HGT Elizabeth was responsible for developing and establishing the Global Outcome Survey Department, which manages global patient registries. Elizabeth was also member of the Shire HGT European Management Team and the Global Medical Affairs Leadership Team. Before joining Shire HGT/TKT Europe-5S, Elizabeth held a similar position for 8 years at Pharmacia/Pfizer where she established and managed a global patient registry KIMS on the rare condition adult GHD and the outcome of growth hormone treatment. Elizabeth has published numerous papers and is a frequent speaker at several congresses on topics related to orphan rare diseases. Miroslav Reljanovic, MD, MSc, is a board-certified neurologist. Whilst practising as a physician in a large WHO Collaborating Centre in Zagreb, he was the clinical investigator in numerous Phase II and III studies in the field of neurology and a consultant to various pharmaceutical companies. In 1997, Miro founded Ergomed contract research organization (CRO) and he introduced the novel Study Site Coordination model as an intrinsic part of the conduct of clinical studies. This model became a landmark of the Ergomed approach to clinical research which is paramount to provide high quality trial data in very demanding areas like oncology, neurology, and orphan diseases including rare cancers. Miro has also successfully introduced the first European innovative co-development business model and he has completed several transactions with European and North American listed biopharmaceutical companies. Together with co-founder Elliot Brown, MB, MRCGP, FFPM, a well known international expert in drug safety, Miro started PrimeVigilance in 2008, which soon became a leading specialist vendor of contracted pharmacovigilance services to the pharmaceutical industry. Through a strategic partnership with Elizabeth Hernberg-Ståhl, Miro established a specific division at Ergomed, focusing on providing assistance and support to biotechnology and drug industries, clinicians, and researchers, to facilitate the development of candidate drugs for rare diseases in this challenging field.

• List of figures and tablesAcknowledgementsAbout the authorsChapter 1: IntroductionChapter 2: Orphan drugs and orphan drug legislationAbstract:1.1 The history of orphan drug legislation1.2 Legislation and the definition of orphan disease in different countries1.3 Current state of the art: number of designations and approvals1.4 Players on the market1.5 Contribution made by orphan drug legislation1.6 Procedure: orphan drug designation and marketing authorisation approval1.7 External links and sources of further informationChapter 3: Characteristics of rare diseasesAbstract:2.1 Definition of rare diseases, prevalence, incidence and coverage by the International Classification of Diseases (ICD)2.2 Characteristics of rare diseases, genetics and underlying causes2.3 Common problems encountered with rare diseases2.4 Patient care, management and counselling2.5 Examples of rare diseases2.6 Public awareness and disease support groups2.7 Resources and external linksChapter 4: Patient network and advocacy groupsAbstract:3.1 Patient empowerment through international institutions: WHO and EU3.2 The role of patient organisations and advocacy groups: the needs, strategies, objectives and achievements3.3 Patients and research: patients’ engagement and empowerment within rare diseases3.4 Umbrella organisations: EURORDIS and NORD3.5 National European organisations3.6 Other organisations working in the Americas3.7 Organisations working in Africa, Asia and Australasia3.8 Other patient alliances3.9 Organisations dedicated to a specific disease3.10 Virtual health communitiesChapter 5: Organisations and networks dedicated to rare diseases and orphan drugsAbstract:4.1 Organisations and networks: their roles and activities4.2 European organisations and networks4.3 American organisations and networks4.4 International organisations and networksChapter 6: Policies and research fundingAbstract:5.1 Policies on rare diseases5.2 Research funding in the European Union (EU)5.3 Research funding in the USA5.4 Collaborative activities and joint funding5.5 External links and sources of further informationChapter 7: Designing robust clinical trials for orphan drugsAbstract:6.1 Review of hurdles and implications for study design6.2 Finding relevant study endpoints6.3 Sample size and demonstration of superiority for market approval and HTA evaluation6.4 The need for long-term collaborative effort in collecting real-world safety and effectiveness data6.5 NotesChapter 8: Market access procedures for orphan drugsAbstract:7.1 What is meant by market – or patient – access?7.2 Market approval versus market access7.3 Differences in access procedures for orphan drugs by country7.4 Availability and access to orphan drugs7.5 Difficulties in estimating the value of treatment7.6 Differences in patient access schemes and patient registries7.7 Patient involvement in HTA7.8 Compassionate use (expanded access)Index