Qualitative investigation into HRQL and caregiver burden of a rare childhood genetic disease

The challenge

Health-related quality of life (HRQL) is difficult to assess in rare diseases using standard instruments because the small number of patients weakens the conclusions that can be drawn from statistical analysis. However, HRQL data were required to provide a broad context for the safety and efficacy of a treatment in development, for HTA submissions. 

Our solution

To supplement the clinical trial data, we designed an interview-based study to explore caregiver reports of the impact of the disease on the children and themselves as caregivers, with a goal of peer-review publication. 

Our approach

We interviewed 50 caregivers of children with the rare disease. The study was conducted to the highest scientific standards, including guidance from clinical experts, development of a study protocol, ethics review, flexible study design to accommodate the sensitive nature of the interviews, highly experienced interviewers, and analysis of data using recognised qualitative analytic approaches. 

The outcome

The study report was written up as a peer-reviewed publication reporting the enormous burden of the disease on patients, their caregivers and  families, to support HTA submissions.