National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20892-4874, USA.
RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain.
Adv Exp Med Biol. 2017;1031:641-648. doi: 10.1007/978-3-319-67144-4_34.
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.
罕见病领域的成员投入了大量的财力和人力资源来解决与罕见病相关的众多问题。过去，人们致力于强调罕见病，包括强调研究，或寻找罕见病的信息，以及在小患者人群中进行临床试验的要求和限制。患者倡导组织和患者在临床研究各个方面的参与的扩大作用继续在研究界得到认可。未来将需要从多个来源（包括电子健康记录和大数据源）更好地理解和解释可用信息。由于临床试验设计和数据分析的进步，潜在孤儿产品的渠道继续显著增长，并为新的干预措施带来了巨大的希望。通过改进测序方法扩展诊断程序将加快罕见病的诊断。接受罕见病的公认命名法和编码将有助于区分疾病并确定罕见病的选定亚群。改善患者招募和监管机构在产品审查和批准程序方面的灵活性将促进产品批准。儿童特别需要帮助和支持，以应对因罕见病而与同龄人隔离的感觉。在从儿童期过渡到青春期到成年期的过程中，与同龄人相处融洽并不想与众不同的困难是一个主要问题。为了应对治疗费用的增加，基于价值的护理（Value-Based Care）越来越被报销和支付方社区接受，作为干预措施支付的基础。移动健康（M-health）技术有可能彻底改变未来临床研究的开展方式。可穿戴设备、远程传感器和移动设备应用程序（apps）的开发都将有助于对患者进行持续监测，以确保批准和研究性化合物的安全性和有效性。远程医疗和远程医疗可能为专家临床医生提供必要的访问机会，让他们更好地了解个体罕见病。随着新型治疗方法和护理方法的引入，未来有望取得更大的进展，甚至实现更个性化的治疗。
