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 An Explananatory, Proof-of-concept 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 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 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
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 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 ---
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