The Study of the Phenotype of Hereditary Xerocytosis (EPIOX)

April 29, 2025 updated by: Centre Hospitalier Universitaire, Amiens
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Estimated)

20

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Amiens, France, 80090
        • Recruiting
        • CHRU Amiens
        • Principal Investigator:
          • Corinne Guitton, MD
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
identification of PIEZO1 mutations
Time Frame: 36 months
36 months
identification of KCNN4 mutations
Time Frame: 36 months
36 months
correlation between the identified PIEZO1 mutations and Hemoglobin levels
Time Frame: 36 months
36 months
correlation between the identified KCNN4 mutations and Hemoglobin levels
Time Frame: 36 months
36 months
correlation between the identified PIEZO1 mutations and reticulocytes levels
Time Frame: 36 months
36 months
correlation between the identified KCNN4 mutations and reticulocytes levels
Time Frame: 36 months
36 months
correlation between the identified PIEZO1 mutations and Ferritin levels
Time Frame: 36 months
36 months
correlation between the identified KCNN4 mutations and Ferritin levels
Time Frame: 36 months
36 months
correlation between the identified PIEZO1 mutations and MRI quantification of intrahepatic iron
Time Frame: 36 months
36 months
correlation between the identified KCNN4 mutations and MRI quantification of intrahepatic iron
Time Frame: 36 months
36 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire, Amiens

Collaborators

Kremlin-Bicetre Hospital, Paris

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 1, 2025

Primary Completion (Estimated)

March 1, 2028

Study Completion (Estimated)

March 1, 2028

Study Registration Dates

First Submitted

March 18, 2025

First Submitted That Met QC Criteria

March 18, 2025

First Posted (Actual)

March 24, 2025

Study Record Updates

Last Update Posted (Actual)

April 30, 2025

Last Update Submitted That Met QC Criteria

April 29, 2025

Last Verified

March 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PI2023_843_0142

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Genotype

Clinical Trials on Blood sample

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Kuwait

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe