The Study of the Phenotype of Hereditary Xerocytosis

Recruiting now · Not applicable

Conditions studied: Xerocytosis, Phenotype, Genotype

In brief

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.

Key facts

Study ID

NCT06892171

Run by

Centre Hospitalier Universitaire, Amiens

People needed

20

Starts

2025-03-01

Expected to finish

2028-03-01

Last updated by the study team

2025-04-30

Who can join

Age: 10 and older. Sex: any. Healthy volunteers: not accepted.

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

Where it is running

• CHRU Amiens — Amiens, France (enrolling)

Full record on ClinicalTrials.gov

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