in Relation to Sickle Cell Disease
Conditions
Keywords
AHSP, Sickle Cell Disease, SS Phenotype, Sβ0 Phenotype
Brief summary
Evaluation of AHSP concentration in total blood as a biomarker in adult and pediatric sickle cell patients
Detailed description
Research involving non-interventional humans. Selection and inclusion of patients by CHSD investigators. Collection of clinical data by investigators and CHSD URC staff. Biochemical and hematological measurements by the CHSD medical biology laboratory for care samples Pseudonymization of 4 mL research samples by the URC then fractionation of the samples by 1 mL, and storage at -80°C within the medical biology laboratory of the CHSD. Transport of samples at -80°C to team 1 of Dr Baudin-Creuza (Créteil). Preparation of genomic DNA from a 1 mL fraction then α and β globin genotyping by Dr Pissard. Measurement of the AHSP concentration from the other fractions. Comparison of the AHSP concentration according to the group of subjects, and with the different parameters, then correlation analysis
Interventions
BIOLOGICALMeasurement of AHSP concentration
Pseudonymization and identification of research samples EDTA tube of 4 mL for patients over 15 and a half years old, and 2 EDTA tubes of 2 mL for children aged 3 to 15 and a half years, totaling 4 mL) by Team 4 according to the procedure in force at the URC. The 4 mL research sample will then be divided into 1 mL fractions by a technician in the laboratory and stored at -80°C in the medical biology laboratory.
Sponsors
Inserm U955
Centre Hospitalier de Saint-Denis
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
OTHER
Masking
NONE
Intervention model description
30 sickle cell patients over 15 and a half years old with SS or Sβ0 phenotype 30 control patients over 15 and a half years old without hemoglobin abnormalities, recruited at the hospital 20 pediatric sickle cell patients (aged between 3 and 15 and a half years) with SS or Sβ0 phenotype 20 pediatric control patients (aged between 3 and 15 and a half years) without hemoglobin abnormalities, recruited at the hospital
Eligibility
Sex/Gender
ALL
Age
3 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Inclusion Criteria for Sickle Cell Patients 1. Adults: \> 15 years and 6 months 2. Pediatrics: ≥ 3 years and ≤ 15 years and 6 months 3. Known SS or Sβ0 phenotypes Inclusion Criteria for Control Patients. 1 -Adults: \> 15 years and 6 months /Pediatrics: ≥ 3 years and ≤ 15 years and 6 months 2-Absence of Hemoglobinopathy 3-Follow-up for one of the following conditions (adults): Evaluation of hematological disease excluding hemoglobinopathy, evaluation of prolonged fever or inflammatory syndrome, initial or episodic evaluation of an auto-inflammatory disease or systemic disease, general health deterioration -Follow-up for one of the following conditions (pediatrics): Suspected precocious puberty, growth delay, or neurodevelopmental disorder 4-Blood sample planned as part of medical care
Exclusion criteria
1. Hemoglobin disorder other than sickle cell disease (Criteria for Sickle Cell Patients) 2. Hemoglobinopathies other than sickle cell disease (Criteria for Control Patients) 3. Transfusion less than 3 months ago 4. Chronic active viral disease: hepatitis B, C, HIV 5. Current infections or known inflammatory pathologies 6. Known hyper or hypothyroidism or subject treated with levothyroxine 7. Active tumor pathology or remission for less than 5 years 8. Oral corticosteroid therapy in progress 9. Participation in interventional biomedical research 10. Opposition to participation in research by the patient if he is an adult, or by one of the two parents if the patient is a minor. 11. Non-affiliation to a social security system
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| AHSP concentrations measured in patients | 6 MONTH | Comparison of AHSP concentrations measured in total blood between: Those of adult sickle cell patients and those of adult control patients without sickle cell disease Those of pediatric sickle cell patients and those of pediatric control patients without sickle cell disease |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Correlation analysis | 6 MONTH | Correlation analysis between the AHSP parameter and the clinical-biological, therapeutic, and genetic parameters of adult and pediatric sickle cell patients. |
Countries
France
Contacts
Primary ContactStéphanie NGO, Coordinating Investigator
Backup ContactStéhanie COSSEC, Project Coordinator
Outcome results
None listed