NCT06892171

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
20

participants targeted

Target at below P25 for not_applicable

Timeline
23mo left

Started Mar 2025

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress40%
Mar 2025Mar 2028

Study Start

First participant enrolled

March 1, 2025

Completed
17 days until next milestone

First Submitted

Initial submission to the registry

March 18, 2025

Completed
6 days until next milestone

First Posted

Study publicly available on registry

March 24, 2025

Completed
2.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 1, 2028

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2028

Last Updated

April 30, 2025

Status Verified

March 1, 2025

Enrollment Period

3 years

First QC Date

March 18, 2025

Last Update Submit

April 29, 2025

Conditions

XerocytosisPhenotypeGenotype

Keywords

xerocytosisphenotypegenotypePIEZO1KCNN4 mutation

Outcome Measures

Primary Outcomes (10)

  • 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 Hemoglobin levels

    36 months

  • correlation between the identified PIEZO1 mutations and reticulocytes levels

    36 months

  • correlation between the identified KCNN4 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

Interventions

Blood sampleBIOLOGICAL

blood sample for genetic analysis

Eligibility Criteria

Age10 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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).

You may not qualify if:

  • patients with other hemolysis reason

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

CHRU Amiens

Amiens, 80090, France

RECRUITING

MeSH Terms

Conditions

Xerocytosis, hereditary

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Central Study Contacts

Loic Garçon, Pr

CONTACT

33+322088371garcon.loic@chu-amiens.fr

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 18, 2025

First Posted

March 24, 2025

Study Start

March 1, 2025

Primary Completion (Estimated)

March 1, 2028

Study Completion (Estimated)

March 1, 2028

Last Updated

April 30, 2025

Record last verified: 2025-03

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)