The Study of the Phenotype of Hereditary Xerocytosis

Status: Recruiting
Location: See location...
Intervention Type: Biological
Study Type: Interventional
Study Phase: Not Applicable
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 10
Healthy Volunteers: f
View:

• 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).

Locations
Other Locations
France
CHRU Amiens
RECRUITING
Amiens
Contact Information
Primary
Loic Garçon, Pr
garcon.loic@chu-amiens.fr
33+322088371
Time Frame
Start Date: 2025-03-01
Estimated Completion Date: 2028-03
Participants
Target number of participants: 20
Sponsors
Collaborators: Kremlin-Bicetre Hospital, Paris
Leads: Centre Hospitalier Universitaire, Amiens

This content was sourced from clinicaltrials.gov

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