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An improved understanding of diagnostic and treatment practices for patients with rare primary mitochondrial disorders can support benchmarking against guidelines and establish priorities for evaluative research. We aimed to describe physician care for patients with mitochondrial diseases in Canada, including variation in care.
We conducted a cross-sectional survey of Canadian physicians involved in the diagnosis and/or ongoing care of patients with mitochondrial diseases. We used snowball sampling to identify potentially eligible participants, who were contacted by mail up to five times and invited to complete a questionnaire by mail or internet. The questionnaire addressed: personal experience in providing care for mitochondrial disorders; diagnostic and treatment practices; challenges in accessing tests or treatments; and views regarding research priorities.
We received 58 survey responses (52% response rate). Most respondents (83%) reported spending 20% or less of their clinical practice time caring for patients with mitochondrial disorders. We identified important variation in diagnostic care, although assessments frequently reported as diagnostically helpful (e.g., brain magnetic resonance imaging, MRI/MR spectroscopy) were also recommended in published guidelines. Approximately half (49%) of participants would recommend “mitochondrial cocktails” for all or most patients, but we identified variation in responses regarding specific vitamins and cofactors. A majority of physicians recommended studies on the development of effective therapies as the top research priority.
While Canadian physicians’ views about diagnostic care and disease management are aligned with published recommendations, important variations in care reflect persistent areas of uncertainty and a need for empirical evidence to support and update standard protocols.
Reimbursement decisions on orphan drugs carry significant uncertainty, and as the amount increases, so does the risk of making a wrong decision, where harms outweigh benefits. Consequently, patients often face limited access to orphan drugs. Managed access programs (MAPs) are a mechanism for managing risk while enabling access to potentially beneficial drugs. Patients and their caregivers have expressed support for these programs and see patient input as critical to successful implementation. However, they have yet to be systematically involved in their design. The objective of this study was to explore what a framework for MAPs might look like when designed by patients and caregivers.
Building upon established relationships with the Canadian Organization for Rare Disorders, the project team collaborated with patients and caregivers using the principles of participatory action research. Data were collected at two workshops and analyzed using a thematic network approach.
Patients and caregivers identified six aspects of an ideal MAP relating to accountability (program goals), governance (program-specific committee oversight; patient input; international collaboration), and evidence collection (outcome measures and stopping criteria; ongoing monitoring and registries). Additionally, patients and caregivers recognized that health care resources are finite and considered disease or drug eligibility criteria for deciding when to use a MAP (e.g. drugs treating diseases for which there are no other legitimate alternatives).
A patient and caregiver-designed framework was created, which emphasized patient involvement and transparency. Further research is needed to examine the feasibility of this framework and roles for other stakeholders.
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