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Recruiting NCT06892171

The Study of the Phenotype of Hereditary Xerocytosis

No phase Interventional Xerocytosis Phenotype Genotype

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Blood sample.
Who it may be relevant to
Registry conditions: Xerocytosis, Phenotype, Genotype. Basic parameters: from 10 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

Interventions

  • Biological Blood sample
    blood sample for genetic analysis

Primary outcome measures

  • identification of PIEZO1 mutations [Time frame: 36 months]
  • identification of KCNN4 mutations [Time frame: 36 months]
  • correlation between the identified PIEZO1 mutations and Hemoglobin levels [Time frame: 36 months]
  • correlation between the identified KCNN4 mutations and Hemoglobin levels [Time frame: 36 months]
  • correlation between the identified PIEZO1 mutations and reticulocytes levels [Time frame: 36 months]
  • correlation between the identified KCNN4 mutations and reticulocytes levels [Time frame: 36 months]
  • correlation between the identified PIEZO1 mutations and Ferritin levels [Time frame: 36 months]
  • correlation between the identified KCNN4 mutations and Ferritin levels [Time frame: 36 months]
  • correlation between the identified PIEZO1 mutations and MRI quantification of intrahepatic iron [Time frame: 36 months]
  • correlation between the identified KCNN4 mutations and MRI quantification of intrahepatic iron [Time frame: 36 months]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
N/A
Model
Single group
Masking
Open label
Primary purpose
Basic science

Study locations

France · 1 center
  • CHRU Amiens — Amiens

Identifiers

NCT: NCT06892171 · PI2023_843_0142

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗