Rare Diseases Epidemiology: Update and Overview

Stephen C. Groft, Manuel Posada de la Paz, Groft, Stephen C., Posada de la Paz, Manuel

Members of the rare disease community have devoted significant financial and personnel resources to address the numerous issues surrounding rare diseases. The past has been devoted to developing an emphasis on rare diseases including an emphasis on research studies or locating information on rare diseases and the requirements and limitations of conducting clinical trials with small patient populations. The expanded role of patient advocacy organizations and patient engagement in all aspects of clinical research continues to gain acceptance within the research community. The future will require a greater understanding and interpretation of available information from multiple sources including electronic health records and big data sources. The pipeline of potential orphan products continues to grow significantly and holds great promise for novel interventions due to advances in clinical trial design and data analyses. Expanding diagnostic procedures with improved sequencing methods will speed up the diagnosis or rare diseases. Accepting agreed upon nomenclature and codification of rare diseases will assist in differentiating diseases and identifying selected sub-populations of rare diseases. Improvements in patient recruitment and increased flexibility in the product review and approval procedures by regulatory agencies will facilitate product approvals. Children particularly will need help and assistance dealing with feelings of isolation from their peers due to their rare disease. During the transition from childhood to adolescence to adult, difficulties of fitting in with peers and not wanting to be different are a major concern. In response to increasing costs of treatments, Value-Based Care is gaining greater acceptance by the reimbursement and the payer community as a basis for payment for interventions. Mobile Health (M-health) Technologies have the potential to revolutionize how clinical research is conducted in the future. Wearable devices, remote sensors, and the development of mobile device applications (apps) will all assist in constant monitoring of patients for safety and efficacy of approved and investigational compounds. Tele Health and Tele Medicine may provide the necessary access to expert clinicians with a better understanding of individual rare diseases. The future promises great advances and even greater personalized treatments with the introduction of novel treatments and approaches to care.