Dehydrated stomatocytosis is a genetic disorder characterized by chronic hemolysis, variable
anemia and erythrocyte dehydration. Causative mutations have been identified in either the
Gardos (KCNN4) channel or the mechanosensitive channel PIEZO1. Senicapoc is a selective
blocker of the Gardos channel that has been extensively studied in sickle cell disease and
shown to be safe with limited side-effects. However, senicapoc did not meet the designated
clinical endpoints in a pivotal phase 3 trial. The present study is an explanatory,
proof-of-concept study of Senicapoc administered once daily in patients with familial
dehydrated stomatocytosis caused by the autosomal dominant V282M mutation in the Gardos
(KCNN4) channel.
Phase:
Phase 1/Phase 2
Details
Lead Sponsor:
Boston Children's Hospital Boston Children’s Hospital