SNPMiner Trials (Home Page)
Report for Mutation V282M
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 A PHASE 3, OPEN-LABEL, TREATMENT EFFICACY STUDY OF SENICAPOC IN PATIENTS WITH FAMILIAL DEHYDRATED STOMATOCYTOSIS CAUSED BY THE V282M MUTATION IN THE GARDOS (KCNN4) CHANNEL
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 a Phase 3 study of the efficacy and safety of senicapoc for the reduction of hemolysis, and improvement of anemia, when present, in patients with dehydrated stomatocytosis caused by the V282M mutation in the Gardos (KCNN4) channel.
NCT04372498 Dehydrate Dehydrated Hereditary Stomatocytosis Drug: Senicapoc (synonyms: ICA-17043; 2,2-bis-(4-fluorophenyl)-2-phenylacetamide) MeSH:Anemia, Hemolytic, Congenital Dehydration
HPO:Congenital hemolytic anemia Dehydration
A PHASE 3, OPEN-LABEL, TREATMENT EFFICACY STUDY OF SENICAPOC IN PATIENTS WITH FAMILIAL DEHYDRATED STOMATOCYTOSIS CAUSED BY THE V282M MUTATION IN THE GARDOS (KCNN4) CHANNEL. --- V282M ---
The present study is a Phase 3 study of the efficacy and safety of senicapoc for the reduction of hemolysis, and improvement of anemia, when present, in patients with dehydrated stomatocytosis caused by the V282M mutation in the Gardos (KCNN4) channel. --- V282M ---
Dehydrate Dehydrated Hereditary Stomatocytosis Anemia, Hemolytic, Congenital Dehydration The proposed study is a Phase 3, open-label, treatment efficacy 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 ---
Primary Outcomes
Description: Reticulocyte count, bilirubin, LDH, Hemoglobin
Measure: chronic hemolysis biomarkers Time: 6 monthsSecondary Outcomes
Description: Splenic, abdominal or other, assessed with Numeric Pain Rating Scale (NPRS).
Measure: Decrease in the frequency and intensity of pain Time: 6 monthsDescription: FACT-An QOL questionnaire
Measure: Improved functional health and well-being Time: 6 monthsDescription: patient diaries or PDA
Measure: Decrease in the frequency and intensity of pain Time: optional, 6 monthsDescription: three-dimensional ultrasonography
Measure: spleen volume Time: if available, 6-months