Hereditary Spherocytosis and Vascular Function

NCT ID: NCT04451785

Last Updated: 2025-08-26

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 72 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2020-08-26
• Study Completion Date: 2022-08-26

Brief Summary

Background : Patients with hereditary spherocytosis (HS) are characterized by increased red blood cell (RBC) fragility and a loss of RBC deformability. While the clinical variability of the disease may be heterogenous from one patient to another, some studies reported the occurrence of vascular complications, notably in patients who have been splenectomized.

Purpose : The aim of the study is to test the associations between the degree of vascular dysfunction and the extent of hemolysis, the amount of circulating microparticles, the level of erythrosis and the degree of RBC biophysical alterations.

Abstract : Recent studies reported the occurrence of vascular complications in patients with HS, notably in patients who have previously been splenectomized. However, the exact reasons of these complications are unknown and no study investigated the vascular function in HS patients.

Main objective Highlight the presence of altered vascular function in HS patients and test the relationships with the level of hemolysis and circulating microparticles.

Secondary objectives To evaluate the associations between clinical severity and 1) the level of vascular dysfunction and 2) several biomarkers (hemolysis, hematological parameters, circulating microparticles, erythrosis, RBC biophysical properties).

Conditions

Hereditary Spherocytosis

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

Healthy individuals

20 healthy subjets aged 6 years minimum will be included in this study. This is the control group.

Group Type: ACTIVE_COMPARATOR

blood sample

Intervention Type: BIOLOGICAL

6 tubes of 4 milliliters (ml) maximum (total: 24 ml) will be sampled for the measurements of the different biological markers. In case of the genetic mutation is already known, only 5 tubes will be collected (total: 20 ml).

Pulse wave velocity

Intervention Type: DIAGNOSTIC_TEST

Non-invasive measurement of pulse wave velocity between the carotid and femoral arteries with piezo-electric sensors.

Patients with hereditary spherocytosis

60 patients with hereditary spherocytosis will be included in this study.

Group Type: EXPERIMENTAL

blood sample

Intervention Type: BIOLOGICAL

6 tubes of 4 milliliters (ml) maximum (total: 24 ml) will be sampled for the measurements of the different biological markers. In case of the genetic mutation is already known, only 5 tubes will be collected (total: 20 ml).

Pulse wave velocity

Intervention Type: DIAGNOSTIC_TEST

Non-invasive measurement of pulse wave velocity between the carotid and femoral arteries with piezo-electric sensors.

Interventions

blood sample

6 tubes of 4 milliliters (ml) maximum (total: 24 ml) will be sampled for the measurements of the different biological markers. In case of the genetic mutation is already known, only 5 tubes will be collected (total: 20 ml).

Intervention Type: BIOLOGICAL

Pulse wave velocity

Non-invasive measurement of pulse wave velocity between the carotid and femoral arteries with piezo-electric sensors.

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

Healthy controls:

• age ≥ 6 years old
• written, informed and signed consent by the healthy volunteer, or by both parents or legal guardian if the healthy volunteer is a minor
• Healthy volunteer affiliated to a social security scheme or assimilated
• Healthy volunteer not subject to any legal protection measure

Patients with hereditary spherocytosis:

• age ≥ 6 years old
• Patient with hereditary or non-splenectomized spherocytosis
• Written, informed and signed consent by the patient, or by at least one of the two parents or legal guardian if the patient is a minor
• Patient affiliated to a social security scheme or assimilated
• Patient not subject to any legal protection measure

Exclusion Criteria

Healthy controls:

• Pregnant or lactating woman
• Subjects with hereditary spherocytosis or other characterized condition by chronic hemolysis
• Subjects with known pathology affecting the vascular system
• Blood donation (less than a month old)
• Not affiliated to a social security scheme
• Patient participating in another interventional research protocol that may interfere with this protocol (according to the investigator's judgment).

Patients with hereditary spherocytosis:

• Patient who received a blood transfusion in the 3 months preceding
• Pregnant or lactating woman
• Any disease or condition other than hereditary spherocytosis, chronic or not, likely to induce chronic or acute intravascular hemolysis
• Patient participating in another interventional research protocol that may interfere with this protocol (according to the investigator's judgment).

• Minimum Eligible Age: 6 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Hospices Civils de Lyon

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Institut d'Hématologie et Oncologie PEdiatrique (iHOPe)

Lyon, , France

Hôpital Edouard Herriot

Lyon, , France

Countries

France

References

Casabianca M, Gauthier A, Nader E, Cannas G, Martin F, Martin M, Carin R, Boisson C, Guillot N, Merazga S, Renoux C, Bertrand Y, Garnier N, Hot A, Muniansi I, Halfon-Domenech C, Poutrel S, Joly P, Connes P. Red blood cell senescence and vascular function in patients with hereditary spherocytosis with and without splenectomy. Br J Haematol. 2024 May;204(5):e41-e44. doi: 10.1111/bjh.19444. Epub 2024 Apr 2. No abstract available.

Reference Type: RESULT

PMID: 38563320 (View on PubMed)

Other Identifiers

2019-A03203-54

Identifier Type: OTHER

Identifier Source: secondary_id

69HCL19_0949

Identifier Type: -

Identifier Source: org_study_id