Pilot Study "AHSP as a Biomarker of Sickle Cell Disease in a Population of Adults and Children" (AHSPDREP)

Evaluation of AHSP concentration in total blood as a biomarker in adult and pediatric sickle cell patients

Study Overview

• Status: Recruiting
• Conditions: in Relation to Sickle Cell Disease
• Intervention / Treatment: Biological: Measurement of AHSP concentration

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

• Study Type: Interventional
• Enrollment (Estimated): 100
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Stéphanie NGO, Coordinating Investigator; Phone Number: 01 42 35 60 stephanie.ngo@ch-stdenis.fr; Email: stephanie.ngo@ch-stdenis.fr
• Study Contact Backup: Name: Stéhanie COSSEC, Project Coordinator; Phone Number: 01.42.35.61.40 stephanie.cossec@ghtpdfr.fr; Email: stephanie.cossec@ghtpdfr.fr

Study Locations

• France
  • Saint-Denis, France, 93200
    • Recruiting
    • Centre Hospitalier de Saint-Denis
    • Contact: Stéphanie NGO; Phone Number: 0142356140; Email: stephanie.ngod@ch-stdenis.fr

Participation Criteria

Eligibility Criteria

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

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

4

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: sickle cell patients over 15 and a half years old; sickle cell patients over 15 and a half years old with SS or Sβ0 phenotype	Biological: Measurement 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.
Other: control patients over 15 and a half years old; control patients over 15 and a half years old without hemoglobin abnormalities, recruited at the hospital	Biological: Measurement 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.
Experimental: pediatric sickle cell patients (aged between 3 and 15 and a half years); pediatric sickle cell patients (aged between 3 and 15 and a half years) with SS or Sβ0 phenotype	Biological: Measurement 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.
Other: pediatric control patients (aged between 3 and 15 and a half years); pediatric control patients (aged between 3 and 15 and a half years) without hemoglobin abnormalities, recruited at the hospital	Biological: Measurement 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
AHSP concentrations measured in patients	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	6 MONTH

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Correlation analysis	Correlation analysis between the AHSP parameter and the clinical-biological, therapeutic, and genetic parameters of adult and pediatric sickle cell patients.	6 MONTH

Collaborators and Investigators

• Sponsor: Centre Hospitalier de Saint-Denis
• Collaborators: Inserm U955

Publications and helpful links

Helpful Links

• Decreased sickle red blood cell adhesion to laminin by hydroxyurea is associated with inhibition of Lu/BCAM protein phosphorylation
• F. Clinical management of adult sickle-cell disease. Curr Opin Hematol
• 2D DIGE based proteomics study of erythrocyte cytosol in sickle cell disease: altered proteostasis and oxidative stress
• Alpha-hemoglobin stabilizing protein (AHSP), a kinetic scheme of the action of a human mutant, AHSPV56G

Study record dates

Study Major Dates

• Study Start (Actual): March 6, 2025
• Primary Completion (Estimated): March 20, 2026
• Study Completion (Estimated): January 20, 2027

Study Registration Dates

• First Submitted: December 11, 2024
• First Submitted That Met QC Criteria: December 11, 2024
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): April 2, 2025
• Last Update Submitted That Met QC Criteria: March 28, 2025
• Last Verified: July 1, 2024

More Information

Terms related to this study

• Keywords: Sickle Cell Disease; AHSP; SS Phenotype; Sβ0 Phenotype
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Hematologic Diseases; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hemoglobinopathies; Anemia, Sickle Cell
• Other Study ID Numbers: 0048_MEDECINE INTERNE_PEDIATRI; 2023-A02784-41 (Registry Identifier: IDRCB)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No