XerocytosisEPIOXNCT06892171
The Study of the Phenotype of Hereditary Xerocytosis
A study testing Blood sample in people with Xerocytosis and Phenotype, run by Centre Hospitalier Universitaire, Amiens at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 10 years and older
- Conditions the study is for
- Xerocytosis, Phenotype, Genotype
- What is being tested?
- Blood sample
- How many people
- 20 participants
- Where
- 1 siteFrance
- Study dates
- 1 Mar 2025to Mar 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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).
Who cannot join
- patients with other hemolysis reason
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHRU Amiens
Amiens, 80090
Loic Garçon Garçon, Pr, 33+322088371, garcon.loic@chu-amiens.fr
Corinne Guitton, MD
About this study
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.
- Conditions
- Xerocytosis, Phenotype, Genotype
- Being tested
- Blood sample
- Keywords
- xerocytosis, phenotype, genotype, PIEZO1, KCNN4 mutation
- Medical subject headings
- Xerocytosis, hereditary
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleBiological
blood sample for genetic analysis
What is being measured
The primary outcome is the main question the study is designed to answer.
identification of PIEZO1 mutations
Measured: 36 months
identification of KCNN4 mutations
Measured: 36 months
correlation between the identified PIEZO1 mutations and Hemoglobin levels
Measured: 36 months
correlation between the identified KCNN4 mutations and Hemoglobin levels
Measured: 36 months
correlation between the identified PIEZO1 mutations and reticulocytes levels
Measured: 36 months
correlation between the identified KCNN4 mutations and reticulocytes levels
Measured: 36 months
correlation between the identified PIEZO1 mutations and Ferritin levels
Measured: 36 months
correlation between the identified KCNN4 mutations and Ferritin levels
Measured: 36 months
correlation between the identified PIEZO1 mutations and MRI quantification of intrahepatic iron
Measured: 36 months
correlation between the identified KCNN4 mutations and MRI quantification of intrahepatic iron
Measured: 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Mar 2025
- Study start1 Mar 2025
- Primary completionMar 2028 (estimated)
- Study completionMar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for XerocytosisStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire, AmiensThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire, Amiens
- Sponsor type
- University, hospital or other
- Collaborators
- Kremlin-Bicetre Hospital, Paris
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06892171
- Sponsor's protocol ID
- PI2023_843_0142
- Acronym
- EPIOX
- Status last verified
- Mar 2025
- First submitted
- 18 Mar 2025
- Last updated
- 30 Apr 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Study of the Phenotype of Hereditary Xerocytosis
- ClinicalTrials.gov ID
- NCT06892171
- Acronym / sponsor ID
- EPIOX / PI2023_843_0142
- Conditions
- Xerocytosis, Phenotype, Genotype
- Keywords
- xerocytosis, phenotype, genotype, PIEZO1, KCNN4 mutation
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire, AmiensUniversity, hospital or other
- Collaborators
- Kremlin-Bicetre Hospital, Paris
- Study start
- 1 Mar 2025 (actual)
- Primary completion
- Mar 2028 (estimated)
- Study completion
- Mar 2028 (estimated)
- First posted
- 24 Mar 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
Who may qualify
- Ages
- 10 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- 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).
Key exclusion criteria (1 listed)
- patients with other hemolysis reason
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sampleblood sample for genetic analysis | Biological | – |
Primary outcome
identification of PIEZO1 mutations
Time frame: 36 months
identification of KCNN4 mutations
Time frame: 36 months
correlation between the identified PIEZO1 mutations and Hemoglobin levels
Time frame: 36 months
correlation between the identified KCNN4 mutations and Hemoglobin levels
Time frame: 36 months
correlation between the identified PIEZO1 mutations and reticulocytes levels
Time frame: 36 months
correlation between the identified KCNN4 mutations and reticulocytes levels
Time frame: 36 months
correlation between the identified PIEZO1 mutations and Ferritin levels
Time frame: 36 months
correlation between the identified KCNN4 mutations and Ferritin levels
Time frame: 36 months
correlation between the identified PIEZO1 mutations and MRI quantification of intrahepatic iron
Time frame: 36 months
correlation between the identified KCNN4 mutations and MRI quantification of intrahepatic iron
Time frame: 36 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Apr 2025.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sample in people with Xerocytosis and Phenotype, run by Centre Hospitalier Universitaire, Amiens at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 30 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Loic Garçon, Pr (33+322088371, garcon.loic@chu-amiens.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
identification of PIEZO1 mutations (time frame: 36 months). The study lists 10 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Apr 2025.