StomatocytosisCOHSTONCT04778657
National Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood Cell
An observational study of Stomatocytosis, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Hereditary stomatocytosis is a heterogeneous group of rare constitutional diseases of dominant transmission in the vast majority of cases. The data concerning their clinical and biological presentation, and their evolution are few, and come from about thirty clinical cases. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Stomatocytosis
- How many people
- 150 participants
- Where
- 1 siteFrance
- Study dates
- 6 May 2021to 1 Mar 2041
- How long will I take part?
- 15 Years
- Phase
- Observational
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: all patients for whom the diagnosis of hereditary stomatocytosis has been made or confirmed by ektacytometry
Who may be able to join
- Any patient with a diagnosis of stomatocytosis without age limit
- Patient affiliated or beneficiary of french Social Security
- No objection from the patient or legal representative
Who cannot join
- Diagnosis of stomatocytosis excluded by ektacytometry and / or genetics
- Patient under guardianship, with curators or legal protection
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
AP-HP, Bicêtre Hospital, Pediatrics - Hematology - Reference center for Sickle cell anemia, Thalassemia and other constitutional diseases of the red blood cell
Le Kremlin-Bicêtre, 94275
Corinne GUITTON, MD, +33 (0) 1 45 21 32 47, corinne.guitton@aphp.fr
About this study
Hereditary stomatocytosis is a heterogeneous group of rare constitutional diseases of dominant transmission in the vast majority of cases. The data concerning their clinical and biological presentation, and their evolution are few, and come from about thirty clinical cases. The constitution of an exhaustive French cohort of hereditary stomatocytosis will improve the establishment of the diagnosis and the management of patients
Read the detailed description
The patient is prospectively included. The referring hematologist will inform the patient about participation in the cohort, give him the information note and obtain his non-objection agreement to the use of his data for research purposes.
The data will be collected from the medical file of each patient as part of his usual annual follow-up.
- Conditions
- Stomatocytosis
- Keywords
- rare genetic disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Obtain a description of the clinical and laboratory data of patients at the time of diagnosis of stomatocytosis
Descriptive analysis of clinical and biological data for the diagnosis of stomatocytosis
Measured: Baseline
Secondary outcomes (4)
Determine the proportion of recurrent genetic mutations and private mutations within our cohort
Number of recurrent genetic mutations and private mutations within our cohort
Measured: Baseline
Establish phenotypes-genotypes relationships
Specify the phenotypic presentation of each mutation and isolate any correlations genotype-phenotype
Measured: through study completion, an average of 15years
Describe the appearance of complications
Rate of occurrence of complications over time
Measured: through study completion, an average of 15years
Describe possible new phenotypic presentations of hereditary stomatocytosis
Description of the phenotypic presentations of hereditary stomatocytosis
Measured: through study completion, an average of 15years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Mar 2021
- Study start6 May 2021
- Primary completion1 Mar 2041 (estimated)
- Study completion1 Mar 2041 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for StomatocytosisStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 150 participants (estimated)
- Target duration
- 15 Years
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Corinne GUITTON, Principal investigator, APHP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04778657
- Sponsor's protocol ID
- APHP210274
- Acronym
- COHSTO
- Status last verified
- Feb 2021
- First submitted
- 26 Feb 2021
- Last updated
- 3 Nov 2021
- Results posted
- No
- Data monitoring committee
- No
- 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 3 Nov 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- National Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood Cell
- ClinicalTrials.gov ID
- NCT04778657
- Acronym / sponsor ID
- COHSTO / APHP210274
- Conditions
- Stomatocytosis
- Keywords
- rare genetic disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 6 May 2021 (actual)
- Primary completion
- 1 Mar 2041 (estimated)
- Study completion
- 1 Mar 2041 (estimated)
- First posted
- 3 Mar 2021 (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 stomatocytosis is a heterogeneous group of rare constitutional diseases of dominant transmission in the vast majority of cases. The data concerning their clinical and biological presentation, and their evolution are few, and come from about thirty clinical cases. The constitution of an exhaustive French cohort of hereditary stomatocytosis will improve the establishment of the diagnosis and the management of patients
Detailed description
The patient is prospectively included. The referring hematologist will inform the patient about participation in the cohort, give him the information note and obtain his non-objection agreement to the use of his data for research purposes.
The data will be collected from the medical file of each patient as part of his usual annual follow-up.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 15 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- all patients for whom the diagnosis of hereditary stomatocytosis has been made or confirmed by ektacytometry
Key inclusion criteria (3 listed)
- Any patient with a diagnosis of stomatocytosis without age limit
- Patient affiliated or beneficiary of french Social Security
- No objection from the patient or legal representative
Key exclusion criteria (2 listed)
- Diagnosis of stomatocytosis excluded by ektacytometry and / or genetics
- Patient under guardianship, with curators or legal protection
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Obtain a description of the clinical and laboratory data of patients at the time of diagnosis of stomatocytosis
Time frame: Baseline
Descriptive analysis of clinical and biological data for the diagnosis of stomatocytosis
4 secondary outcomes
Determine the proportion of recurrent genetic mutations and private mutations within our cohort
Time frame: Baseline
Establish phenotypes-genotypes relationships
Time frame: through study completion, an average of 15years
Describe the appearance of complications
Time frame: through study completion, an average of 15years
Describe possible new phenotypic presentations of hereditary stomatocytosis
Time frame: through study completion, an average of 15years
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 3 Nov 2021.
- Individual participant dataSharing planned: No
Related trials for Stomatocytosis
RecruitingObservational study
Integrative Diagnosis for SCD and Other RADs
Sickle Cell Disease, Thalassaemia
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.
Corinne GUITTON principal investigator
APHP
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Stomatocytosis, run by Assistance Publique - Hôpitaux de Paris 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 2 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 3 Nov 2021. 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 Corinne GUITTON, MD,PhD (01 45 21 32 47, corinne.guitton@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Obtain a description of the clinical and laboratory data of patients at the time of diagnosis of stomatocytosis (time frame: Baseline). 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 3 Nov 2021.