National Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood Cell
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Stomatocytosis. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Primary outcome measures
- Obtain a description of the clinical and laboratory data of patients at the time of diagnosis of stomatocytosis [Time frame: Baseline]
Secondary outcome measures (4)
- 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]
Eligibility criteria
Inclusion criteria
- 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
Exclusion criteria
- Diagnosis of stomatocytosis excluded by ektacytometry and / or genetics
- Patient under guardianship, with curators or legal protection
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- AP-HP, Bicêtre Hospital, Pediatrics - Hematology - Reference center for Sickle cell anemia — Le Kremlin-Bicêtre
Identifiers
NCT: NCT04778657 · APHP210274