NCT06892171

The Study of the Phenotype of Hereditary Xerocytosis

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 20 (estimated)
• Sponsor: Centre Hospitalier Universitaire, Amiens · Academic / Other
• Sex: All
• Age: 10 Years
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• Xerocytosis
• Phenotype
• Genotype

Interventions

Type	Name	Description
BIOLOGICAL	Blood sample	blood sample for genetic analysis

Timeline

• Start date: 2025-03-01
• Primary completion: 2028-03-01
• Completion: 2028-03-01
• First posted: 2025-03-24
• Last updated: 2025-04-30

Locations

1 site across 1 country: France