SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT04372498

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

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
MeSH:Anemia, Hemolytic, Congenital Dehydration
HPO:Congenital hemolytic anemia Dehydration

1 Interventions

Name: Senicapoc (synonyms: ICA-17043; 2,2-bis-(4-fluorophenyl)-2-phenylacetamide)

Description: This study is conducted as open label, with each patient's response determined with an adaptive Bayesian model based on historical and baseline values for the primary endpoints of the trial. 3 monthly dose escalation steps will assess the efficacy of senicapoc in a dose range (10-40 mg/day) which has been used in prior trials for other indications.
Type: Drug
Group Labels: 1

Treatment


Primary Outcomes

Description: Reticulocyte count, bilirubin, LDH, Hemoglobin

Measure: chronic hemolysis biomarkers

Time: 6 months

Secondary Outcomes

Description: Splenic, abdominal or other, assessed with Numeric Pain Rating Scale (NPRS).

Measure: Decrease in the frequency and intensity of pain

Time: 6 months

Description: FACT-An QOL questionnaire

Measure: Improved functional health and well-being

Time: 6 months

Description: patient diaries or PDA

Measure: Decrease in the frequency and intensity of pain

Time: optional, 6 months

Description: three-dimensional ultrasonography

Measure: spleen volume

Time: if available, 6-months

Purpose: Treatment

Allocation: N/A

Single Group Assignment


There is one SNP

SNPs


1 V282M

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 ---



HPO Nodes


HPO: