Embrett Mark, Mackinnon Neil J
Can Pharm J (Ott). 2012 May;145(3):136-141.e3. doi: 10.3821/145.3.cpj136.
In late 2005, the federal and provincial governments responded to an increasing demand from physicians and their patients with Fabry disease for access to enzyme replacement therapy (ERT). This response took the form of a nationwide clinical research study, the Canadian Fabry Disease Initiative (CFDI). Patients who enrolled as participants in this longitudinal study received 1 of 2 ERT treatments. The present study used a qualitative evaluative approach to describe the perspectives of various key stakeholders regarding the CFDI and its potential as a model for providing access to expensive drugs for rare diseases.
The CFDI was evaluated from the perspectives of 4 groups of key informants: patients, CFDI investigators, policy-makers and pharmaceutical manufacturers. The qualitative methods strategy used for the study involved semistructured interviews, a holistic-inductive design and content analysis.
Eighteen participants were interviewed. The study revealed that stakeholders held the following perceptions about the CFDI. The CFDI was created as a response to a drug reimbursement problem in Canada. Through specialist physicians, the CFDI has provided ERT to patients with Fabry disease across the country. The CFDI established a national database for collecting and monitoring the incidence of Fabry disease and information about ERT. The CFDI represented a collaborative effort among the various stakeholders (federal, provincial, pharmaceutical), but no stakeholder group thought that the CFDI was the correct response to the need for access to ERT. Finally, the CFDI can and should be redesigned, through modification of either its governing structure or its outcome goals.
The CFDI was a prototype for sharing the costs of expensive therapies for rare diseases. It has provided ERT to many patients with Fabry disease for several years. However, it was poorly designed to meet its outcome goals and has been unable to provide therapy to all individuals with the disease. Therefore, many stakeholders saw this initiative as an inappropriate solution.
The CFDI has not met the expectations of key informant groups and some modifications may be necessary. A registry study might better accomplish the CFDI's original goals of providing access to treatment, gathering data and monitoring patients' progress.
2005年末，联邦和省级政府回应了法布里病患者及其医生对获得酶替代疗法（ERT）日益增长的需求。这一回应采取了全国性临床研究的形式，即加拿大法布里病倡议（CFDI）。作为该纵向研究参与者登记入组的患者接受了两种ERT治疗中的一种。本研究采用定性评估方法来描述各类关键利益相关者对CFDI及其作为为罕见病提供昂贵药物获取途径模式的潜力的看法。
从四组关键信息提供者的角度对CFDI进行评估：患者、CFDI研究人员、政策制定者和制药商。该研究使用的定性方法策略包括半结构化访谈、整体归纳设计和内容分析。
采访了18名参与者。研究表明，利益相关者对CFDI有以下看法。CFDI是为应对加拿大药物报销问题而设立的。通过专科医生，CFDI已为全国各地的法布里病患者提供了ERT。CFDI建立了一个国家数据库，用于收集和监测法布里病的发病率以及有关ERT的信息。CFDI代表了各利益相关者（联邦、省级、制药商）之间的合作努力，但没有一个利益相关者群体认为CFDI是满足获取ERT需求的正确回应。最后，CFDI可以而且应该通过修改其管理结构或成果目标来重新设计。
CFDI是分担罕见病昂贵治疗费用的一个范例。它已经为许多法布里病患者提供了数年的ERT。然而，它在设计上存在缺陷，无法实现其成果目标，也未能为所有该病患者提供治疗。因此，许多利益相关者认为这一举措是一个不恰当的解决方案。
CFDI未达到关键信息提供者群体的期望，可能需要进行一些修改。一项登记研究可能能更好地实现CFDI最初提供治疗途径、收集数据和监测患者进展的目标。
