Examining the genetic traits of hereditary xerocytosis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study investigates hereditary xerocytosis, a red blood cell membrane disorder that causes potassium leakage and chronic hemolysis. It focuses on identifying the phenotypic and genotypic characteristics associated with the condition, particularly mutations in the PIEZO1 and GARDOS channel genes. Participants will provide blood samples to facilitate genetic analysis and better understand the disorder's mechanisms. The study aims to enhance knowledge of hereditary xerocytosis and its underlying genetic factors.

Why it matters

Who can join: the full rules

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

Where it's running

• CHRU Amiens
  Amiens, France Recruiting

Study contacts

• Study coordinator: Loic Garçon, Pr
• Email: garcon.loic@chu-amiens.fr
• Phone: 33+322088371

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.