Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study

• Published in: Molecular genetics and metabolism reports Vol. 31; p. 100862
• Main Authors: Wanner, Christoph, Kimonis, Virginia, Politei, Juan, Warnock, David G., Üçeyler, Nurcan, Frey, Aline, Cornelisse, Peter, Hughes, Derralyn
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.06.2022; Elsevier
• Subjects: Fabry disease; Lucerastat; MODIFY; Research Paper; Substrate reduction therapy; CTCAE; PGIC-PS; α-GAL A; LVMI; ERT; Fabry disease; LVEF; OLE; BPI-SF; GSRS; PRO; SD; SRT; PGIS-D; BPI-SF3; NeP; Gb3; CESD-R-20; IBS; Lucerastat; CKD-EPI; HbA1c; NRS-11; UT; eGFR; FABPRO-GI; NYHA; CD; CE; GI; BSS; MODIFY; AE; b.i.d; ECG; EOS; PGIS-P; EOT; SF-36v2; PGIC-DS; GCS; IRB; UCI; PK; FGID; NPSI; FD; Substrate reduction therapy

The use of available treatments for Fabry disease (FD) (including enzyme replacement therapy [ERT]) may be restricted by their limited symptom improvement and mode of administration. Lucerastat is currently being investigated in the MODIFY study as oral substrate reduction therapy for the treatment...