The Study of the Phenotype of Hereditary Xerocytosis

Hereditary xerocytosis is a dominant red blood cell membrane disorder characterized by an increased leakage of potassium from the interior to the exterior of the red blood cell membrane, leading to water loss, red cell dehydration, and chronic hemolysis. In 90% of cases, it is associated with heterozygous gain-of-function mutations in PIEZO1, a gene that encodes a mechanotransducer responsible for converting mechanical stimuli into biological signals. The remaining 10% of cases are linked to mutations in the GARDOS channel gene.

NCT Number	NCT06892171
Lead Sponsor	Centre Hospitalier Universitaire, Amiens Collaborators: Kremlin-Bicetre Hospital, Paris
Conditions	Xerocytosis, Phenotype, Genotype
Enrollment	20 participants
Start Date	2025-03-01
Primary Completion	2028-03 (estimated)
Study Completion	2028-03 (estimated)
Updated on ClinicalTrials.gov	2025-04-30