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

Assistance Publique - Hôpitaux de Paris150 enrolled

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

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 Type

OBSERVATIONAL

Enrollment

150

Conditions

Stomatocytosis

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

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

RECRUITING

Outcomes

Primary Outcomes

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

Time frame: Baseline

Secondary Outcomes

Determine the proportion of recurrent genetic mutations and private mutations within our cohort

Number of recurrent genetic mutations and private mutations within our cohort

Time frame: Baseline

Establish phenotypes-genotypes relationships

Specify the phenotypic presentation of each mutation and isolate any correlations genotype-phenotype

Time frame: through study completion, an average of 15years

Describe the appearance of complications

Rate of occurrence of complications over time

Time frame: through study completion, an average of 15years

Describe possible new phenotypic presentations of hereditary stomatocytosis

Description of the phenotypic presentations of hereditary stomatocytosis

Time frame: through study completion, an average of 15years

Central Contacts

Corinne GUITTON, MD,PhD

CONTACT

01 45 21 32 47 corinne.guitton@aphp.fr

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.