Actively Recruiting
The Study of the Phenotype of Hereditary Xerocytosis
Led by Centre Hospitalier Universitaire, Amiens · Updated on 2025-04-30
20
Participants Needed
1
Research Sites
156 weeks
Total Duration
On this page
Sponsors
C
Centre Hospitalier Universitaire, Amiens
Lead Sponsor
K
Kremlin-Bicetre Hospital, Paris
Collaborating Sponsor
AI-Summary
What this Trial Is 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.
CONDITIONS
Official Title
The Study of the Phenotype of Hereditary Xerocytosis
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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 will not qualify if you...
- Patients with other reasons for hemolysis
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
CHRU Amiens
Amiens, France, 80090
Actively Recruiting
Research Team
L
Loic Garçon, Pr
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
BASIC_SCIENCE
Number of Arms
0
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