Sangiorgi L, Boarini M, Westerheim I, Skarberg R T, Clancy J, Wang V, Mordenti M
Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
OIFE (Osteogenesis Imperfecta Federation Europe), Heffen (Mechelen), Belgium.
Orphanet J Rare Dis. 2024 May 2;19(1):184. doi: 10.1186/s13023-024-03185-y.
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effectiveness. Healthcare systems may require data on clinical utility, savings, and budget impact. Furthermore, the exact requirements of these bodies vary country by country and sometimes even region to region, resulting in a patchwork of different data requirements to achieve effective, reimbursed patient access to new therapies. In addition, clinicians require data to make informed clinical management decisions. This requirement is of key importance in rare diseases where there is often limited data and clinical experience at the time of regulatory approval.This paper describes an innovative initiative that is called Project SATURN: Systematic Accumulation of Treatment practices and Utilization, Real world evidence, and Natural history data for the rare disease Osteogenesis Imperfecta. The objective of this project is to generate a common core dataset by utilising existing data sources to meet the needs of the various stakeholders and avoiding fragmentation through multiple approaches (e.g., a series of individual national requests/approaches, and unconnected with the regulators' potential requirements). It is expected that such an approach will reduce the time for patient access to life-changing medications. Whilst Project SATURN applies to Osteogenesis Imperfecta, it is anticipated that the principles could also be applied to other rare diseases and reduce the time for patient access to new medications.
监管层面的上市许可不足以确保患者能够获得新的药品。卫生技术评估机构可能需要有关有效性、相对有效性和成本效益的数据。医疗保健系统可能需要有关临床效用、节省费用和预算影响的数据。此外，这些机构的确切要求因国家而异，有时甚至因地区而异，导致为了让患者有效获得并报销新疗法而产生了拼凑而成的不同数据要求。此外，临床医生需要数据来做出明智的临床管理决策。这一要求在罕见病中至关重要，因为在监管批准时往往数据有限且临床经验不足。本文描述了一项名为“土星计划”的创新举措：系统收集成骨不全这一罕见病的治疗实践、利用情况、真实世界证据和自然史数据。该项目的目标是通过利用现有数据源生成一个通用核心数据集，以满足各利益相关方的需求，并避免因多种方式（例如一系列个别国家的请求/方式，且与监管机构的潜在要求无关）而导致的数据碎片化。预计这种方法将减少患者获得改变生活的药物的时间。虽然“土星计划”适用于成骨不全，但预计这些原则也可应用于其他罕见病，并减少患者获得新药的时间。
