Examining the genetic traits of hereditary xerocytosis
The Study of the Phenotype of Hereditary Xerocytosis
This study is trying to find out more about hereditary xerocytosis by looking at the genes involved and how they affect people with this blood condition.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 20 (estimated) |
| Ages | 10 Years and up |
| Sex | All |
| Sponsor | Centre Hospitalier Universitaire, Amiens Academic / other |
| Locations | 1 site (Amiens) |
| Trial ID | NCT06892171 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with hereditary xerocytosis as per the 2021 PNDS guidelines.
Not a fit: Patients with hemolysis due to other causes will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and management strategies for patients with hereditary xerocytosis.
How similar studies have performed: While there may be studies on related genetic disorders, this specific investigation into hereditary xerocytosis and its phenotypic traits is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Amiens
- CHRU Amiens — Amiens, France (Recruiting)
Study contacts
- Study coordinator: Loic Garçon, Pr
- Email: garcon.loic@chu-amiens.fr
- Phone: 33+322088371
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.