The Study of the Phenotype of Hereditary Xerocytosis

Not Applicable

Recruiting

• Conditions: Xerocytosis; Phenotype; Genotype

• Registration Number: NCT06892171
• Lead Sponsor: Centre Hospitalier Universitaire, Amiens

Brief 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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2025-03
• Study Start: 2025-03-01
• Study First Submitted: 2025-03-18
• Study First Submitted QC: 2025-03-18
• Study First Posted: 2025-03-24
• Last Update Submitted: 2025-04-29
• Last Update Posted: 2025-04-30
• Primary Completion: 2028-03
• Study Completion: 2028-03

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

• Any patient diagnosed with hereditary xerocytosis according to the 2021 PNDS guidelines
• Covered by a social security plan
• Signature of the consent form for study participation by the patient, or for minors, by the parent(s)/legal representative(s).

Exclusion Criteria

• patients with other hemolysis reason

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
identification of PIEZO1 mutations	36 months
identification of KCNN4 mutations	36 months
correlation between the identified PIEZO1 mutations and Hemoglobin levels	36 months
correlation between the identified KCNN4 mutations and reticulocytes levels	36 months
correlation between the identified KCNN4 mutations and Hemoglobin levels	36 months
correlation between the identified PIEZO1 mutations and reticulocytes levels	36 months
correlation between the identified PIEZO1 mutations and Ferritin levels	36 months
correlation between the identified KCNN4 mutations and Ferritin levels	36 months
correlation between the identified PIEZO1 mutations and MRI quantification of intrahepatic iron	36 months
correlation between the identified KCNN4 mutations and MRI quantification of intrahepatic iron	36 months

Trial Locations

Locations (1)

CHRU Amiens; 🇫🇷 Amiens, France