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, France
Location status: Recruiting
Recruiting
NCT Number: NCT04778657
National Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood Cell
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
Recruiting
Interested in participating?
Request InfoKey information
About this study
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.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
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
Treatment and study plan
Primary outcomes
-
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
Secondary outcomes
-
Determine the proportion of recurrent genetic mutations and private mutations within our cohort
Time frame: Baseline
Number of recurrent genetic mutations and private mutations within our cohort
-
Establish phenotypes-genotypes relationships
Time frame: 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
Time frame: through study completion, an average of 15years
Rate of occurrence of complications over time
-
Describe possible new phenotypic presentations of hereditary stomatocytosis
Time frame: through study completion, an average of 15years
Description of the phenotypic presentations of hereditary stomatocytosis
Study contacts
Contact information is provided by the study sponsor or research team.
Sponsors and collaborators
Lead sponsor
Assistance Publique - Hôpitaux de Paris
Other
Registry information
Acronym: COHSTO
Important dates
- Study start
- 2021
- Primary completion
- 2041
- Study completion
- 2041
- First posted
- Mar 3, 2021
- Registry last updated
- Nov 3, 2021
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
Related clinical trials
Published trials that share one or more normalized conditions with this study.
Recruiting
Integrative Diagnosis for SCD and Other RADs
NCT07206095
Anemia, Anemia Due to Membrane Defect
Barcelona, Spain
View Trial Details
Completed
ERN-EuroBloodNet Registry on Patients With Rare Red Blood Cell Defects and COVID-19
NCT06831799
Alpha-Thalassemia, Anemia
Barcelona, Spain
View Trial Details