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NCT Number: NCT06892171

The Study of the Phenotype of Hereditary Xerocytosis

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.

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Key information

Conditions

Xerocytosis Genotype Phenotype Xerocytosis, hereditary

Age range

10 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CHRU Amiens

Amiens, 80090, France

Location status: Recruiting

Location contact

Corinne Guitton, MD

PRINCIPAL_INVESTIGATOR

Loic Garçon Garçon, Pr

CONTACT

[email protected]

33+322088371

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Blood sample

Biological

blood sample for genetic analysis

Primary outcomes

  1. identification of PIEZO1 mutations

    Time frame: 36 months

  2. identification of KCNN4 mutations

    Time frame: 36 months

  3. correlation between the identified PIEZO1 mutations and Hemoglobin levels

    Time frame: 36 months

  4. correlation between the identified KCNN4 mutations and Hemoglobin levels

    Time frame: 36 months

  5. correlation between the identified PIEZO1 mutations and reticulocytes levels

    Time frame: 36 months

  6. correlation between the identified KCNN4 mutations and reticulocytes levels

    Time frame: 36 months

  7. correlation between the identified PIEZO1 mutations and Ferritin levels

    Time frame: 36 months

  8. correlation between the identified KCNN4 mutations and Ferritin levels

    Time frame: 36 months

  9. correlation between the identified PIEZO1 mutations and MRI quantification of intrahepatic iron

    Time frame: 36 months

  10. correlation between the identified KCNN4 mutations and MRI quantification of intrahepatic iron

    Time frame: 36 months

Study contacts

Contact information is provided by the study sponsor or research team.

Loic Garçon, Pr

CONTACT

[email protected]

33+322088371

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire, Amiens

Other

Collaborators

  • Kremlin-Bicetre Hospital, Paris

Registry information

Acronym: EPIOX

Important dates

Study start
2025
Primary completion
2028
Study completion
2028
First posted
Mar 24, 2025
Registry last updated
Apr 30, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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