Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease
Status:
Unknown status
Trial end date:
2020-09-30
Target enrollment:
Participant gender:
Summary
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.