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

NCT04778657 | Recruiting

• 1 other identifier: APHP210274
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

Stomatocytosis

Keywords

rare genetic disease

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (4)

• Determine the proportion of recurrent genetic mutations and private mutations within our cohort

  Baseline

• Establish phenotypes-genotypes relationships

  through study completion, an average of 15years

• Describe the appearance of complications

  through study completion, an average of 15years

• Describe possible new phenotypic presentations of hereditary stomatocytosis

  through study completion, an average of 15years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (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, 94275, France

RECRUITING

Study Officials

• Corinne GUITTON

  APHP

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Corinne GUITTON, MD,PhD

CONTACT

01 45 21 32 47; corinne.guitton@aphp.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 15 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 26, 2021
• First Posted: March 3, 2021
• Study Start: May 6, 2021
• Primary Completion (Estimated): March 1, 2041
• Study Completion (Estimated): March 1, 2041
• Last Updated: November 3, 2021

Record last verified: 2021-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)