VO2max & HRQoL in Children With Sickle Cell Disease

NCT05995743 | Completed

• 1 other identifier: RECHMPL22_0192
• Study Type: observational
• Target: 72
• Locations: 1 country
• Sites: 1

Brief Summary

Sickle cell disease is the most common inherited genetic disorder, accounting for 300,000 births worldwide per year. It is caused by an autosomal recessive mutation of the β-globin gene, responsible for an abnormal hemoglobin, the main protein in red blood cells, responsible for transporting oxygen from the lungs to the tissues. The abnormal hemoglobin, known as "Sickle" or S, deforms the red blood cell, causing chronic hemolytic anemia, organ damage (heart, spleen, etc.) and vaso-occlusive crises. Therapeutic progress and specialised patient follow-up have considerably improved the vital and functional prognosis of children and adolescents with sickle cell disease. Physical fitness, measured during a cardiorespiratory exercise test (CPET), is used to determine maximal oxygen uptake (VO2max). Patients with sickle cell disease have a multifactorial limitation of exercise tolerance, which may affect their physical fitness. Authors have shown that VO2max is impaired in children and adolescents with sickle cell disease, independently of their baseline hemoglobin level. Yet VO2max is a key determinant of health-related quality of life (HRQoL) in patients being monitored for a chronic disease. In the past, our team has contributed to the assessment of HRQoL in several groups of pediatric patients suffering from chronic disease (congenital heart disease, PAH). To date, the link between impaired physical fitness and HRQoL has not been demonstrated in sickle cell children. The pathophysiological determinants of reduced physical capacity and exercise tolerance in sickle cell patients have also not been fully elucidated. Studying these factors will enable us to propose appropriate treatment in the future, with the aim of improving physical fitness and HRQoL in children and adolescents with sickle cell disease.

Conditions

Sickle Cell; Children

Keywords

Cardiopulmonary exercise test; VO2max; Sickle cell disease; Child; Heath-related quality of life; Cardiopulmonary rehabilitation

Outcome Measures

Primary Outcomes (1)

• Difference between aerobic fitness evaluated by VO2max, expressed in Z-score between cases and controls

  1 day

Secondary Outcomes (4)

• Correlation between aerobic fitness and quality of life in cases group

  1 day

• Correlation between aerobic fitness and physical activity level, in cases group

  1 day

• Correlation between aerobic fitness and educational level (knowledge about disease), in cases group

  1 day

• Correlation between aerobic fitness and VO2max limiting factors in cases group: demographic, genetic mutation, clinical (comorbidities, respiratory function, cardiac function, anemia, CPET data)

  1 day

Study Arms (2)

Cases: Children with sickle cell disease

Children aged 6 to 17 years with a confirmed diagnosis of sickle cell disease (i.e., homozygous HbS/S or heterozygous HbS/C mutations)

Controls: Healthy children referred for a non-severe functional symptom linked to exercise

Children aged 6 to 17 years with a completely normal check-up, including physical examination, ECG, echocardiography, and spirometry. Children with any chronic disease, medical condition, or medical treatment and those requiring any further specialized medical consultation were not eligible.

Eligibility Criteria

• Age: 6 Years - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Sickle cell children cohort consisted of children with a genetic diagnosis of sickle cell disease (HbS/S or HbS/C), followed at the Department of Pediatrics of Montpellier University Hospital, a tertiary care academic institution in southern France. Healthy children cohort consisted of children referred to a pediatric cardiologist for a nonsevere functional symptom related to exercise (murmur, palpitation, chest pain, and dyspnoea) or for a medical sports certificate. These children needed to have a completely normal check-up, including physical examination, ECG, and echocardiography. Children with any chronic disease, medical condition or medical treatment, and those requiring any further specialized medical consultation were not eligible.

You may qualify if:

• Child from 6 to 17 years old, with a confirmed diagnosis of sickle cell disease (i.e., homozygous HbS/S or heterozygous HbS/C mutations), during their routine follow-up, having performed :
• a hematology consultation : physical examination, blood test
• a cardiology consultation : electrocardiogram, transthoracic echocardiography
• a respiratory plethysmography
• a CPET and to fill in the study questionnaires.

You may not qualify if:

• Parents' refusal to use medical data.
• Healthy children
• Child from 6 to 17 years old having performed a cardio-respiratory exercise test for chest pain, dyspnea on exertion, heart murmur and whose results do not find:
• Congenital heart disease (normal echocardiography and ECG)
• Respiratory disease (normal FEV1 and FVC)
• Child having performed a maximal cardio-respiratory stress exercise until exhaustion.
• Child taking long-term drug treatment
• Child with chronic disease
• Parents' refusal to use medical data.

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

Pediatric and Congenital Cardiology Department, Arnaud De Villeneuve University Hospital

Montpellier, Occitanie, 34295, France

Location

Related Publications (25)

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MeSH Terms

Conditions

Anemia, Sickle Cell

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Corentin Laurent-Lacroix, Resident

  Montpellier University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 9, 2023
• First Posted: August 16, 2023
• Study Start: November 1, 2021
• Primary Completion: November 1, 2022
• Study Completion: November 1, 2022
• Last Updated: August 21, 2023

Record last verified: 2023-08

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)