The Study of the Phenotype of Hereditary Xerocytosis

Launched by CENTRE HOSPITALIER UNIVERSITAIRE, AMIENS · Mar 18, 2025

Keywords

ClinConnect Summary

This clinical trial is looking at hereditary xerocytosis, a condition that affects red blood cells, making them lose potassium and water. This loss can lead to dehydration of the red blood cells and result in their destruction over time. The study aims to better understand the different characteristics (phenotypes) and genetic factors (genotypes) related to this condition. Most cases are linked to a specific gene mutation, but some are associated with another gene.

To participate in this trial, you need to be diagnosed with hereditary xerocytosis based on certain guidelines. You must also be covered by a social security plan and provide consent for participation (or have a parent or legal guardian sign if you are a minor). The trial is not currently recruiting participants, but when it starts, those involved will help researchers learn more about this condition, which could lead to better care and treatment options in the future.

Gender

ALL

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:
• • patients with other hemolysis reason