The Study of the Phenotype of Hereditary Xerocytosis

Condition(s) studied

Investigational drug(s) / intervention(s)

Blood sample: blood sample for genetic analysis

Study 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.

Eligibility

Primary outcome measure(s)

• identification of PIEZO1 mutations — 36 months
• identification of KCNN4 mutations — 36 months
• correlation between the identified PIEZO1 mutations and Hemoglobin levels — 36 months
• correlation between the identified KCNN4 mutations and Hemoglobin levels — 36 months
• correlation between the identified PIEZO1 mutations and reticulocytes levels — 36 months
• correlation between the identified KCNN4 mutations and reticulocytes levels — 36 months
• correlation between the identified PIEZO1 mutations and Ferritin levels — 36 months
• correlation between the identified KCNN4 mutations and Ferritin levels — 36 months
• correlation between the identified PIEZO1 mutations and MRI quantification of intrahepatic iron — 36 months
• correlation between the identified KCNN4 mutations and MRI quantification of intrahepatic iron — 36 months

Trial sites (1)

More Centre Hospitalier Universitaire, Amiens trials in France

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