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
N/A
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 genetic red blood cell disorder where potassium leaks out of cells, causing dehydration and ongoing breakdown of red blood cells. This condition is mostly caused by mutations in the PIEZO1 gene in about 90% of cases, with the rest linked to mutations in the GARDOS channel gene. The study aims to understand how these genetic changes relate to the features of the disease, including blood and iron levels. Participants will provide blood samples for genetic analysis to identify mutations in PIEZO1 and KCNN4 genes. The study does not involve treatment but focuses on collecting data over 36 months to examine how these genetic mutations correlate with various blood parameters and MRI measurements of iron in the liver. During the study, participants will undergo blood tests and MRI scans to measure hemoglobin, reticulocytes, ferritin, and liver iron levels. Researchers will monitor these outcomes over 36 months to better characterize the disease. The study involves no masking or placebo and is open to patients diagnosed with hereditary xerocytosis who meet the eligibility criteria.
CONDITIONS
Brief 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
- Signed consent form by the patient or parent/legal representative if a minor
You will not qualify if you...
- Patients with hemolysis caused by reasons other than hereditary xerocytosis
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 36 months
Participants provide blood samples for genetic analysis to study hereditary xerocytosis.
Trial Site Locations
Total: 1 location
1
CHRU Amiens
Amiens, France, 80090
Actively Recruiting
Research Team
L
Loic Garçon, Pr
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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