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Orphan drugs and rare disorders

Level:
Area:
Expert Seminar Series
Code:
ESS23
Duration:
04:00:00
Workshop profile:
Objective:
The session will discuss the specifics of medical publications and regulatory requirements for rare disorders and orphan drug applications, and any other documents (e.g. patient management guidelines) relating to this field.
Content:
Carl Bjartmar will start the session by reviewing the most important epidemiological, etiological and clinical aspects of orphan diseases, and also will discuss a number of topics such as developing a publication plan, communicating clinical trial data, writing manuscripts and regulatory writing. These topics will be illustrated by real-life examples to highlight the advanced requirements of medical writing for orphan diseases and drugs. For further details, read Carl’s abstract. Elisa Ferrer will present the growing engagement of patients with rare diseases in the process of clinical development of orphan drugs. Medical writers who prepare regulatory documents need to understand the importance of bringing patients into the co-creation process or the review of regulatory or medical information documents. In this session, practical tips on how medical writers can involve patients in regulatory document development will be shared. For further details read Elisa’s abstract. European Medicines Agency (EMA) is responsible for the scientific evaluation of marketing authorisation applications for all orphan medicines in the European Economic Area (EEA), as they fall under the mandatory scope of the centralised procedure. In the second part of this session, Dr. Elisabeth Penninga who is Chief Medical Officer at the Danish Medicines Agency, and a full member of the Committee for Orphan Medicinal Products (COMP) at EMA will describe the process of orphan designation and will provide an overview of what has been achieved in EU since the orphan legislation entered into force in 2000. Medical writing for orphan diseases and drugs: Key considerations from a pharmaceutical company perspective (abstract, Carl Bjartmar) The rarity of orphan diseases raises several important considerations in the partnership between medical writer and pharma colleagues. At initiation of the collaboration, writers are unlikely to have previous specific disease experience, although experience in a different orphan disease or a related disease area may be valuable. Therefore, this talk will review the most important epidemiological, etiological and clinical aspects of orphan diseases. It will provide the basic epidemiological definitions and data, focus on specific, common features of this group of diseases, and highlight etiological and clinical differences of orphan diseases compared with common disorders. Due to limited previous drug development, few documents may be available for guidance, either for regulatory writing or for publications for healthcare professionals (HCPs) or patients. When developing the publication plan, there is also often a need to raise awareness of the condition, as rare diseases are frequently under-diagnosed. Furthermore, common rare diseases complexities, e.g. involving complex genetics, must be clearly and consistently explained across publications. When communicating clinical trial data, the study design may need to be justified, e.g. small sample size, lack of a control arm. In addition, endpoints may need to be validated. For regulatory writing, a thorough understanding of marketing authorisation processes; regional differences in incentives; and the implications of potential fast-track designation are essential. At the manuscript stage, medical writers may need to advise on journal selection. General medical journals may be reluctant to publish on rare diseases and yet there are few specific journals on these conditions, and these have restricted readership. Of note, there is often a small author pool and individuals may be overburdened. Moreover, there may be limited expert peer reviewers with sufficient knowledge of the condition and available treatments. As the development of orphan drugs is particularly costly, medical writers should ensure cost-effective use of publication budgets. These considerations will be discussed and selected examples will be used to highlight the advanced requirements of medical writing for orphan diseases and drugs. Enabling effective engagement of rare disease patients through meaningful documents (abstract, Elisa Ferrer) The involvement of patients in medicines research and development allows researchers, medicine developers and regulators to better understand the medical condition, its impact on patients' lives and their priorities in terms of clinically meaningful therapies. These perspectives may differ from those of clinicians or the pharmaceutical industry. Patient engagement is particularly important in the field of rare diseases where scientific knowledge is scarce and treatment options are often non-existent or have low efficacy. Thus, patient-focused clinical trial design of orphan products may result in more relevant outcomes for patients, with an added benefit of reducing the uncertainty at the time of a medicine’s benefit-risk assessment. Rare disease patients are actively engaging at different levels with medicines developers, regulators and health technology assessment (HTA) bodies/payers. At the European Medicines Agency (EMA), patients participate in many activities including being full members of EMA scientific committees, ensuring that regulatory documents are understandable by the general public and also contributing their expertise in protocol assistance/scientific advice procedures. Rare disease patients are also central within the European Reference Networks ensuring the patient-centric approach in health care, research, ethical aspects and data sharing and protection. Complex medical language can be a barrier to effective patient engagement; health literacy is fundamental for a meaningful integration of the patients’ voice into the drug development process. Although capacity-building led by patient organisations increases patient understanding of the drug regulatory process, provision of clear, accurate and unbiased information in a patient-friendly format and language is also the responsibility of the institutions engaging with patients. Medical writers can contribute to successful rare disease patient engagement through the development of materials supporting these requirements from lay clinical trial summaries to scientific advice dossiers. Patient organisations encourage writers to bring patients into the co-creation process or review of regulatory or medical information documents. In this session, practical tips on how medical writers can involve patients in regulatory document development will be shared.