OBJECTIVES:

Fabry disease is a rare inherited lysosomal disorder. This study used a two-phase cross-sectional design discrete choice experiment (DCE) to assess Fabry patients’ preferences for different aspects of treatment.

METHODS:

In the first phase, semi-structured interviews were conducted with Fabry patients in the UK who were currently receiving Fabry treatment. Interviews explored participants’ treatment experience and their views of treatments. The interview results informed the development of a DCE survey administered in the second phase to assess treatment preferences. Treatment attributes included symptoms (pain and fatigue), adverse events (digestive problems, headaches, treatment reactions), consistency of treatment effect, and mode of administration. The survey was completed online by patients currently receiving treatment for Fabry disease in the UK and Denmark. Qualitative data were analysed using content analysis; demographic data were analysed using descriptive statistics, logit models were used to analyse the DCE data.

RESULTS:

Scoping interviews were conducted with 16 patients; participants reported many symptoms and discussed their experiences with receiving treatment for Fabry disease. In total 57 participants completed the DCE survey, 65% were receiving enzyme replacement therapy (ERT) and 35% were receiving oral treatment. Overall, participants showed a significant preference for oral treatment over either nurse (OR 0.349, p<0.001) or self-administered (OR 0.289, p<0.001) IV treatment. Additional independent predictors of treatment preferences were improvements in pain (1 or 2-point improvement: ORs 1.418-1.997, p<0.01) and tiredness (2-point improvement: OR 1.435, p<0.01), side effects of digestive problems (OR 0.534, p<0.001) and treatment reactions (OR 0.527-0.719, p<0.01) and the consistency of treatment effect (0.643-0.780, p<0.05). Headache was not a significant predictor of treatment preferences for the overall sample.

CONCLUSIONS:

The survey found that for the sample overall, all treatment attributes were significant predictors of choice except headaches. Overall, participants showed a significant preference for oral treatment.