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The Study of the Phenotype of Hereditary Xerocytosis

NCT06892171 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 20

Last updated 2025-04-30

No results posted yet for this study

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

BIOLOGICAL

Blood sample

blood sample for genetic analysis

Sponsors & Collaborators

  • Kremlin-Bicetre Hospital, Paris

    collaborator UNKNOWN

  • Centre Hospitalier Universitaire, Amiens

    lead OTHER

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
10 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-03-01
Primary Completion
2028-03-31
Completion
2028-03-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06892171 on ClinicalTrials.gov