The Study of the Phenotype of Hereditary Xerocytosis
Recruiting
N/A
Interventional Study
Xerocytosis
Phenotype
Genotype
At a Glance
- Age
- 10 and older
- Sex
- Any
- Study type
- Interventional
- Purpose
- Basic Science
- Participants needed
- 20 (estimated)
- Sponsor
- Centre Hospitalier Universitaire, Amiens · Other
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About This Trial
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…
Trial Locations
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Eligibility Criteria
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:
* …
Contacts