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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-05-06

Study Completion Date

2041-03-01

Brief Summary

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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

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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.

Conditions

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Stomatocytosis

Keywords

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rare genetic disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Eligibility Criteria

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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

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Corinne GUITTON

Role: PRINCIPAL_INVESTIGATOR

APHP

Locations

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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

Site Status RECRUITING

Countries

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France

Central Contacts

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Corinne GUITTON, MD,PhD

Role: CONTACT

Phone: 01 45 21 32 47

Email: [email protected]

Facility Contacts

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Corinne GUITTON, MD

Role: primary

Other Identifiers

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APHP210274

Identifier Type: -

Identifier Source: org_study_id