Qualitative evaluation of the Canadian Fabry disease initiative

Background: 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. Methods: 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. Results: 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. Discussion: 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 Conclusions: 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.