The Study of the Phenotype of Hereditary Xerocytosis (EPIOX)

Centre Hospitalier Universitaire, Amiens

Status: Enrolling

Conditions: Phenotype; Genotype; Xerocytosis

Treatments: Biological: Blood sample

Study type: Interventional

Funder types: Other

Identifiers

NCT06892171

PI2023_843_0142

Details and patient eligibility

About

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.

Enrollment: 20 estimated patients

Sex: All

Ages: 10+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)