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NCT Number: NCT04451785

Hereditary Spherocytosis and Vascular Function

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).

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Key information

Conditions

Hereditary Spherocytosis Anemia Anemia, Hemolytic Anemia, Hemolytic, Congenital Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemolysis Pathologic Processes Pathological Conditions, Signs and Symptoms Spherocytosis, Hereditary

Age range

6 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hôpital Edouard Herriot, Lyon, France

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Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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).

Treatment and study plan

Blood sample

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

Diagnostic Test

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

Primary outcomes

  1. measurement of pulse wave velocity (PWV)

    Time frame: Day 1

    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.

Secondary outcomes

  1. Hemogram

    Time frame: Day 1

    The hemogram is a complete blood count of the different cell types. All these measures are performed simultaneously on a standard hematology analyzer.

  2. Markers of hemolysis

    Time frame: Day 1

    These markers are measured simultaneously on a standard biochemistry analyzer

  3. Circulating microparticles

    Time frame: Day 1

    Circulating microparticles of various cell origin will be measured by flow cytometry

  4. Markers of erythrosis

    Time frame: Day 1

    Markers of erythrosis (i.e., suicidal death of red blood cells) will be measured by flow cytometry

  5. Blood viscosity

    Time frame: Day 1

    Blood viscosity (expressed in Pa.s) will be measured on a cone-plate viscosimeter, ektacytometry and light transmission, respectively.

  6. Red blood cell deformability

    Time frame: Day 1

    Red blood cell deformability will be measured simultaneously on a Lorrca ektacytometry (Laser-assisted Rotational Red Cell Analyser).

  7. Red blood cell aggregation

    Time frame: Day 1

    Red blood cell aggregation will be measured simultaneously on a Lorrca ektacytometry (Laser-assisted Rotational Red Cell Analyser).

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Official study title

Relationships Between Hemolysis, Erythrosis, Circulating Microparticles and Vascular Function in Patients With Hereditary Spherocytosis

Acronym: VASCUSPHERO

Important dates

Study start
2020
Primary completion
2022
Study completion
2022
First posted
Jun 30, 2020
Registry last updated
Aug 26, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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