The Study of the Phenotype of Hereditary Xerocytosis

NCT ID: NCT06892171

Last Updated: 2025-04-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

20 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-03-01

Study Completion Date

2028-03-31

Brief Summary

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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.

Detailed Description

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Conditions

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Xerocytosis Phenotype Genotype

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Interventions

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Blood sample

blood sample for genetic analysis

Intervention Type BIOLOGICAL

Eligibility Criteria

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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
Minimum Eligible Age

10 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Kremlin-Bicetre Hospital, Paris

UNKNOWN

Sponsor Role collaborator

Centre Hospitalier Universitaire, Amiens

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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CHRU Amiens

Amiens, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Loic Garçon, Pr

Role: CONTACT

33+322088371

Facility Contacts

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Loic Garçon Garçon, Pr

Role: primary

33+322088371

Other Identifiers

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PI2023_843_0142

Identifier Type: -

Identifier Source: org_study_id

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