Phase 1/2 Fabry Disease trial now listed on ClinicalTrials.gov

Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease

Official Title:  An Open-Label Study to Assess the Safety and Effect on Key Biomarkers of Oral RVX000222 in Subjects With Fabry Disease

Estimated Enrollment:  16

Anticipated Study Start Date:  October 30, 2017

Estimated Study Completion Date:  November 15, 2018

Estimated Primary Completion Date:  October 30, 2018 (Final data collection date for primary outcome measure)

Purpose: Fabry Disease (FD) is a rare X-linked lysosomal storage disorder (LSD) caused by mutations in the GLA gene which translates into decreased activity or lack of function of the enzyme alpha-galactosidase A (α-GAL A) and accumulation of the enzymes substrate, i.e., Gb3, throughout the body. Cardiovascular and renal complications are among the leading causes of death in FD patients. RVX000222 is a BET inhibitor which modulates the expression of a variety of genes and, due to its effects on pathways downstream of substrate accumulation and reduction of major cardiac events, holds promise as a potential add-on therapy to accompany enzyme replacement therapy (ERT) in FD patients.