National Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood Cell

Recruiting

• Conditions: Stomatocytosis

• Registration Number: NCT04778657
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

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.

Study Timeline

• Status Verified: 2021-02
• Study First Submitted: 2021-02-26
• Study First Submitted QC: 2021-02-26
• Study First Posted: 2021-03-03
• Study Start: 2021-05-06
• Last Update Submitted: 2021-10-28
• Last Update Posted: 2021-11-03
• Primary Completion: 2041-03-01
• Study Completion: 2041-03-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 150

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
Describe the appearance of complications	through study completion, an average of 15years	Rate of occurrence of complications over time
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 possible new phenotypic presentations of hereditary stomatocytosis	through study completion, an average of 15years	Description of the phenotypic presentations of hereditary stomatocytosis

Trial Locations

Locations (1)

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, France