Stomatocytosis
Conditions
Keywords
rare genetic disease
Brief 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. 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.
Interventions
None listed
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Obtain a description of the clinical and laboratory data of patients at the time of diagnosis of stomatocytosis | Baseline | Descriptive analysis of clinical and biological data for the diagnosis of stomatocytosis |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Determine the proportion of recurrent genetic mutations and private mutations within our cohort | Baseline | Number of recurrent genetic mutations and private mutations within our cohort |
| Establish phenotypes-genotypes relationships | through study completion, an average of 15years | Specify the phenotypic presentation of each mutation and isolate any correlations genotype-phenotype |
| Describe the appearance of complications | through study completion, an average of 15years | Rate of occurrence of complications over time |
| Describe possible new phenotypic presentations of hereditary stomatocytosis | through study completion, an average of 15years | Description of the phenotypic presentations of hereditary stomatocytosis |
Countries
France
Contacts
Primary ContactCorinne GUITTON, MD,PhD
Outcome results
None listed