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.

NCT04372498

Conditions

1. Dehydrated Hereditary
2. Dehydrated Hereditary Stomatocytosis

Interventions

1. Drug: Senicapoc (synonyms: ICA-17043; 2,2-bis-(4-fluorophenyl)-2-phenylacetamide)

MeSH:Anemia, Hemolytic, Congenital Dehydration

HPO:Congenital hemolytic anemia Dehydration

An Explananatory, Proof-of-concept Study of Senicapoc in Patients With Familial Dehydrated Stomatocytosis Caused by the V282M Mutation in the Gardos (KCNN4) Channel. --- V282M ---

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. --- V282M ---

Dehydrated Hereditary Dehydrated Hereditary Stomatocytosis Anemia, Hemolytic, Congenital Dehydration The proposed 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. --- V282M ---

The study population will include up to 6 members of the same family, all carrying the V282M mutation and meeting study criteria for inclusion and exclusion. --- V282M ---