Table 7.

Recommendations for further research based on the modified Delphi consensus results (consensus scores and free-text responses).

α-Gal A* PK/PD studies for α-Gal A post-migalastat and post-blood draw. α-Gal A levels in different cell types (leukocytes, podocytes, and cardiomyocytes) throughout disease progression and their relationship to plasma α-Gal A and lyso-Gb3†. Relationship of α-Gal A to clinical outcomes in patients receiving migalastat [analysis by phenotype (classic/late-onset) and sex]. Data entry into registries to enable analysis of larger cohorts over time.

Lyso-Gb 3 * Lyso-Gb3 and clinical outcomes in patients receiving migalastat or ERT†. Data entry into registries to enable analysis of larger cohorts over time. Molecular studies evaluating the mechanism by which lyso-Gb3 is related to disease progression. Collect “baseline” and post-treatment (re)initiation lyso-Gb3 values from patients who experience a ≥ 1-month treatment interruption.

Treatment guidelines Single set for ERT and migalastat, including similarities and differences in initiation and monitoring.

^*α-Gal A and lyso-Gb₃ testing can be accessed through multiple laboratories (63). Availability and standardization of testing for these parameters is key; ^†This could be assessed using a prospective study of α-Gal A and lyso-Gb₃ in patients with amenable mutations receiving migalastat over a period of ≥2 years and including patients across all phenotypes over a wide age range.

α-Gal A, α-galactosidase A; ERT, enzyme replacement therapy; lyso-Gb₃, globotriaosylsphingosine; PD, pharmacodynamic; and PK, pharmacokinetic.