RecruitingNCT04778657

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


Sponsor

Assistance Publique - Hôpitaux de Paris

Enrollment

150 participants

Start Date

May 6, 2021

Study Type

OBSERVATIONAL

Conditions

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


Eligibility

Inclusion Criteria3

  • 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 Criteria2

  • Diagnosis of stomatocytosis excluded by ektacytometry and / or genetics
  • Patient under guardianship, with curators or legal protection

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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

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NCT04778657


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