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

Assistance Publique - Hôpitaux de Paris

Status: Enrolling

Conditions: Stomatocytosis

Study type: Observational

Funder types: Other

Identifiers

NCT04778657

APHP210274

Details and patient eligibility

About

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

Full 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.

Enrollment: 150 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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