NCT04451785

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).

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
72

participants targeted

Target at P50-P75 for not_applicable

Timeline
Completed

Started Aug 2020

Typical duration for not_applicable

Geographic Reach
1 country

2 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

June 18, 2020

Completed
12 days until next milestone

First Posted

Study publicly available on registry

June 30, 2020

Completed
2 months until next milestone

Study Start

First participant enrolled

August 26, 2020

Completed
2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 26, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 26, 2022

Completed
Last Updated

August 26, 2025

Status Verified

April 1, 2024

Enrollment Period

2 years

First QC Date

June 18, 2020

Last Update Submit

August 20, 2025

Conditions

Hereditary Spherocytosis

Keywords

Hereditary spherocytosishemolysismicroparticlesvascular functionred blood cell

Outcome Measures

Primary Outcomes (1)

  • measurement of pulse wave velocity (PWV)

    Vascular function (arterial stiffness) will be investigated by the measurement of pulse wave velocity (PWV). Vascular dysfunction will be defined by a PWV value higher than 6 meter/second (m/s) and 10 m/s in children and adults with HS, respectively.

    Day 1

Secondary Outcomes (7)

  • Hemogram

    Day 1

  • Markers of hemolysis

    Day 1

  • Circulating microparticles

    Day 1

  • Markers of erythrosis

    Day 1

  • Blood viscosity

    Day 1

  • +2 more secondary outcomes

Study Arms (2)

Healthy individuals

ACTIVE COMPARATOR

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

Biological: blood sampleDiagnostic Test: Pulse wave velocity

Patients with hereditary spherocytosis

EXPERIMENTAL

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

Biological: blood sampleDiagnostic Test: Pulse wave velocity

Interventions

blood sampleBIOLOGICAL

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).

Healthy individualsPatients with hereditary spherocytosis
Pulse wave velocityDIAGNOSTIC_TEST

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

Healthy individualsPatients with hereditary spherocytosis

Eligibility Criteria

Age6 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • 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).

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Institut d'Hématologie et Oncologie PEdiatrique (iHOPe)

Lyon, 69373, France

Location

Hôpital Edouard Herriot

Lyon, 69437, France

Location

Related Publications (1)

  • 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.

    PMID: 38563320RESULT

MeSH Terms

Conditions

Spherocytosis, HereditaryHemolysis

Interventions

Blood Specimen CollectionPulse Wave Analysis

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, CongenitalAnemia, HemolyticAnemiaHematologic DiseasesHemic and Lymphatic DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesPathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative TechniquesDiagnostic Techniques, Cardiovascular

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 18, 2020

First Posted

June 30, 2020

Study Start

August 26, 2020

Primary Completion

August 26, 2022

Study Completion

August 26, 2022

Last Updated

August 26, 2025

Record last verified: 2024-04

Locations

FR(2)