The Study of the Phenotype of Hereditary Xerocytosis
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Enrollment
- 20
- Locations
- 1
- Primary Endpoint
- identification of PIEZO1 mutations
Study Overview
Brief 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.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Basic Science
- Masking
- None
Eligibility Criteria
- Ages
- 10 Years to — (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
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
Outcomes
Primary Outcomes
identification of PIEZO1 mutations
Time Frame: 36 months
correlation between the identified PIEZO1 mutations and Hemoglobin levels
Time Frame: 36 months
identification of KCNN4 mutations
Time Frame: 36 months
correlation between the identified KCNN4 mutations and reticulocytes levels
Time Frame: 36 months
correlation between the identified KCNN4 mutations and Hemoglobin levels
Time Frame: 36 months
correlation between the identified PIEZO1 mutations and reticulocytes levels
Time Frame: 36 months
correlation between the identified PIEZO1 mutations and Ferritin levels
Time Frame: 36 months
correlation between the identified KCNN4 mutations and Ferritin levels
Time Frame: 36 months
correlation between the identified PIEZO1 mutations and MRI quantification of intrahepatic iron
Time Frame: 36 months
correlation between the identified KCNN4 mutations and MRI quantification of intrahepatic iron
Time Frame: 36 months
Secondary Outcomes
No secondary outcomes reported