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

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

Study Overview

• Status: Recruiting
• Conditions: Stomatocytosis

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 Type: Observational
• Enrollment (Anticipated): 150

Contacts and Locations

• Study Contact: Name: Corinne GUITTON, MD,PhD; Phone Number: 01 45 21 32 47; Email: corinne.guitton@aphp.fr

Study Locations

• France
  • Le Kremlin Bicêtre, France, 94275
    • Recruiting
    • AP-HP, Bicêtre Hospital, Pediatrics - Hematology - Reference center for Sickle cell anemia, Thalassemia and other constitutional diseases of the red blood cell
    • Contact: Corinne GUITTON, MD; Phone Number: +33 (0) 1 45 21 32 47; Email: corinne.guitton@aphp.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

all patients for whom the diagnosis of hereditary stomatocytosis has been made or confirmed by ektacytometry

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	Baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Determine the proportion of recurrent genetic mutations and private mutations within our cohort	Number of recurrent genetic mutations and private mutations within our cohort	Baseline
Establish phenotypes-genotypes relationships	Specify the phenotypic presentation of each mutation and isolate any correlations genotype-phenotype	through study completion, an average of 15years
Describe the appearance of complications	Rate of occurrence of complications over time	through study completion, an average of 15years
Describe possible new phenotypic presentations of hereditary stomatocytosis	Description of the phenotypic presentations of hereditary stomatocytosis	through study completion, an average of 15years

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Investigators: Principal Investigator: Corinne GUITTON, APHP

Study record dates

Study Major Dates

• Study Start (Actual): May 6, 2021
• Primary Completion (Anticipated): March 1, 2041
• Study Completion (Anticipated): March 1, 2041

Study Registration Dates

• First Submitted: February 26, 2021
• First Submitted That Met QC Criteria: February 26, 2021
• First Posted (Actual): March 3, 2021

Study Record Updates

• Last Update Posted (Actual): November 3, 2021
• Last Update Submitted That Met QC Criteria: October 28, 2021
• Last Verified: February 1, 2021

More Information

Terms related to this study

• Keywords: rare genetic disease
• Additional Relevant MeSH Terms: Pathologic Processes; Hematologic Diseases; Genetic Diseases, Inborn; Anemia; Anemia, Hemolytic; Channelopathies; Anemia, Hemolytic, Congenital
• Other Study ID Numbers: APHP210274

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No