One patient group, the Canadian Organization for Rare Disorders, provided input for this submission. It was noted that UCD is a genetic condition that can manifest with variable severity and characteristics. The impact of the condition can depend on the specific genetic mutation as well as other factors (the economic analysis presented by the manufacturer did not assess subgroups based on this). Symptoms typically vary from birth to adulthood and have an important impact on patients’ lives. Patients with a UCD report fatigue, lethargy, weakness, abdominal symptoms, eating disorders, serious behavioural problems, and learning or cognitive disorders. The condition has a serious impact on home and/or social life and can be associated with frequent hospitalizations. Caregivers expressed that they experienced a tremendous impact on their lives when caring for someone with a UCD.

The submitted cost-effectiveness analysis considered ammonia levels as the efficacy outcome with which QoL data (utility scores) were combined. Information on the outcomes of interest to patients were in some cases not captured in the clinical trials and not considered explicitly in the model. The manufacturer did not include the impact on caregivers in its model.