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

Stomatocytosis Clinical Trial

— COHSTO  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04778657
• Other study ID #: APHP210274
• Status: Recruiting
• Start date: May 6, 2021
• Est. completion date: March 1, 2041

Study information

• Verified date: February 2021
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: Corinne GUITTON, MD,PhD
• Phone: 01 45 21 32 47
• Email: corinne.guitton[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 150
• Est. completion date: March 1, 2041
• Est. primary completion date: March 1, 2041
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Anemia, Hemolytic, Congenital
• Channelopathies
• Stomatocytosis

Locations

Country	Name	City	State
France	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

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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
Secondary	Establish phenotypes-genotypes relationships	Specify the phenotypic presentation of each mutation and isolate any correlations genotype-phenotype	through study completion, an average of 15years
Secondary	Describe the appearance of complications	Rate of occurrence of complications over time	through study completion, an average of 15years
Secondary	Describe possible new phenotypic presentations of hereditary stomatocytosis	Description of the phenotypic presentations of hereditary stomatocytosis	through study completion, an average of 15years