OBJECTIVES: Fabry disease (FD) is a metabolic disorder with clinical onset during childhood or adolescence. A high percentage of patients with FD suffer from neuropathic pain and gastrointestinal (GI) complaints. The positive effect of available treatments (enzyme replacement therapy with agalsidase alfa/beta (ERT) and migalastat) on these symptoms can improve patients’ quality of life. We investigated the minimum time of follow-up in FD to detect the statistically significant impact on neuropathic pain and GI complaints after treatment with available therapies.

METHODS: A targeted literature review was conducted, and relevant clinical data were extracted. All publications of FD patients who received ERT or migalastat and measured treatment effect on neuropathic pain and GI disorders were included.

RESULTS: Thirty-five publications met the inclusion criteria of which 10 and 11 reported a statistically significant effect on neuropathic pain and GI complaints, respectively. Among publications which included at least 2 measurement timepoints, a significant reduction in pain symptoms associated with ERT was recorded as early as 6 months (2/10), 12 months (3/10), 24 months (4/10), or >36 months (1/10). No significant impact on pain was recorded for migalastat. The significant positive effect on GI symptoms generally started after 6 months for both ERT and migalastat (6/11 publications), but longer assessment timepoints have also been reported (12 months in 1 publication on agalsidase alfa, ≥30 months in 3 publications on agalsidase beta). These treatment effects are dependent on the age and gender of patients.

CONCLUSIONS: To our knowledge, this is the first literature review of studies reporting the duration of follow-up needed to observe a statistically significant positive impact of available treatments on neuropathic pain and GI complaints in FD. Our findings show that a minimum of 6 months of follow-up is needed to adequately capture treatment effect on neuropathic pain and GI symptoms.