Study of a Deformability Parameter of Red Blood Cell (FITRED)

Public Assistance-Hospitals of Marseille (AP-HM)

Status: Not yet enrolling

Conditions: Drepanocytosis

Treatments: Procedure: blood collection M12; Procedure: basal blood collection; Procedure: blood collection M6

Study type: Observational

Funder types: Other

Identifiers

NCT05850156

RCAPHM22_0433

Details and patient eligibility

About

Sickle-cell disease is one of the most common severe monogenic disorders in the world, it results in the synthesis of abnormal hemoglobin (HbS) instead of hemoglobin A. When deoxygenated, the sickle haemoglobin (HbS) polymerizes inducing the sickling of red blood cells (RBCs) and leading to decreased deformability and increased fragility. Therefore, sickle RBCs exhibit a reduced lifespan associated with intravascular hemolysis, hemolytic anemia and low tissue oxygenation. Sickle RBCs, which exhibit abnormal adhesive properties to endothelial cells, can block the microcirculation, causing the occurrence of painful vaso-occlusive crisis (VOC), acute chest syndrome (ACS), acute and chronic organ damage (heart, lung, liver, spleen, kidney, bone...) and shortened life span.

A preliminary study performed on RBC from sickle cell patients (Hb SS) has shown an alteration of a parameter measuring the overall deformability of RBCs by evaluating the nature of their movement in a shear flow. This parameter is significantly lower in sickle cell patients in steady state compared to a population of healthy individuals. The parameter is also significantly lower in sickle cell patients during VOC when compared to patient in steady state.

The main objective of this study is to evaluate the performance of the method for measuring the deformability of RBCs on an experimental prototype. Measurements will be performed on blood samples from subjects with a normal hemoglobin electrophoretic profile, from heterozygous carriers of sickle cell disease and from patients with sickle cell disease. Samples from paediatric patients will also be tested to study any specificity in comparison to adult subjects.

Enrollment: 130 estimated patients

Sex: All

Ages: 6+ months old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Repeatability of ftt (mechanical marker of deformability) measurements

Exclusion criteria

• Effect of ambient temperature on ftt measurements
• Effect of sample processing time on ftt measurements

Trial design

130 participants in 4 patient groups

Adult sickle cell patients

Description:

In the context of routine care, 3 blood collection will be performed on adult sickle cell patients for the analysis of hemoglobin fractions. For each blood collection, an additional volume of blood will be taken for the research purposes.

Treatment:

Procedure: blood collection M6

Procedure: blood collection M12

Procedure: basal blood collection

pediatric sickle cell patients

Description:

In the context of routine care, 3 blood collection will be performed on pediatric sickle cell patients for the analysis of hemoglobin fractions. For each blood collection, an additional volume of blood will be taken for the research purposes.

Treatment:

Procedure: blood collection M6

Procedure: blood collection M12

Procedure: basal blood collection

Adult sickle cell carriers (heterozygous patients)

Description:

In the context of neonatal screening for sickle cell disease, the parents will be called altogether with their children in order to check if they are sickle cell carriers or not. Only 1 blood collection will be performed for this group.

Treatment:

Procedure: basal blood collection

Control patients

Description:

In the context of neonatal screening for sickle cell disease, the parents will be called altogether with their children in order to check if they are sickle cell carriers or not. Only 1 blood collection will be performed for this group.

Treatment:

Procedure: basal blood collection