Clinical trial NCT05999422: Exercise Capacity, Physical Activity Level and Quality of Life in Children With Primary Immunodeficiency
Official title: Comparison of Exercise Capacity, Physical Activity Level and Quality of Life of Children With Primary Immunodeficiency With Healthy Children
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Primary Immunodeficiency Diseases
Keywords: Primary Immunodeficiency Diseases
Exercise capacity
Quality of life
Physical activity levels
Lead sponsor: Gazi University
Sponsor class: OTHER
First posted: 2023-08-21
Enrollment: 52
Sex: ALL
Minimum age (years): 6
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 26 patients diagnosed with primary immune deficiency will be recruited, together with 26 healthy individuals.

Brief summary: This study aims to compare the maximal exercise capacity, functional exercise capacity, respiratory functions, physical activity level, quality of life, respiratory muscle strength and endurance, peripheral muscle strength, muscle oxygenation and dyspnea in children with primary immunodeficiency (PID) and healthy individuals. The study was designed as a cross-sectional study on 26 patients diagnosed with primary immunodeficiency and 26 age- and sex-matched healthy individuals. Differences between both groups will be evaluated statistically. The results of this study aim to reveal how primary immunodeficiency patients are affected by factors such as respiratory functions, physical activity level and quality of life

Detailed description: Primary immune deficiencies (PIDs) are a heterogeneous group of diseases resulting from various abnormalities that affect the development, differentiation, and/or function of cells and components of the immune system. PIDs are clinically characterized by increased susceptibility to infections, autoimmune diseases, auto-inflammatory disorders, allergies, bone marrow failure, and/or malignancies. Although individually rare, the total number of individuals with PIDs constitutes a significant health burden. The prevalence and distribution of PIDs vary among populations, with an estimated prevalence of 1/1,000 to 1/5,000. The specific prevalence of PIDs in Turkey is not well known due to the lack of extensive studies and a national registry system. However, a study encompassing two centers in Turkey reported a prevalence of 30.5/100,000. Currently, approximately 500 PID diseases have been identified, with selective immunoglobulin A (IgA) deficiency being the most common and common variable immunodeficiency (CVID) being the most common symptomatic PID.

Pulmonary complications are highly prevalent among PID patients and significantly contribute to morbidity and mortality. Recurrent respiratory tract infections often serve as the initial warning sign in some PIDs and are a leading cause of mortality in adult PID patients. The presence of two or more pneumonia episodes per year is considered one of the ten warning signs of PID. Acute and chronic infections primarily constitute respiratory system diseases, while non-infectious respiratory complications include asthma, bronchiectasis, bronchiolitis obliterans, interstitial lung disease, granulomatous lung disease, and malignancies. These diseases significantly impact the quality of life of PID patients, limit their working abilities, and restrict their physical and social activities. Health-related quality of life in PID patients is also significantly affected by delays in the diagnosis and treatment of infections.

As survival from infections improves, non-infectious pulmonary complications become more common in PID patients. Particularly in PIDs characterized by antibody deficiencies, permanent lung damage is observed in 20-40% of patients.

Physical activity levels are also affected in PID patients, but there are only survey studies on this topic. Therefore, it is expected that respiratory muscle strength, as well as respiratory muscle endurance, functional exercise capacity, and peripheral muscle strength, would be affected in these patients. There is no research available on maximal exercise capacity, functional exercise capacity, respiratory muscle strength and endurance, and peripheral muscle strength.

The aim of this study is to compare the maximal exercise capacity, functional exercise capacity, respiratory functions, physical activity level, quality of life, respiratory muscle strength and endurance, peripheral muscle strength, muscle oxygenation and dyspnea in patients with primary immune deficiencies with healthy individuals.

Eligibility criteria: Inclusion Criteria:

Patients:

* Individuals aged 6-18 years, diagnosed with primary immune deficiency disease and receiving standard medical treatment, will be included in the study.

Healthy controls:

* Individuals between the ages of 6 and 18 without a known chronic disease will be included.

Exclusion Criteria:

Patients:

* Patients who are uncooperative, have orthopedic or neurological disorders that will affect their exercise capacity, and have pneumonia or any acute infection during the evaluation will be excluded from the study.

Healthy controls:

* Those with a known chronic disease, uncooperative and orthopedic or neurological disorders that will affect their exercise capacity will not be included.

Primary outcomes:
measure: Maximal Exercise capacity
timeFrame: through study completion, an average of 1 year
Secondary outcomes:
measure: Functional exercise capacity
timeFrame: through study completion, an average of 1 year
measure: Pulmonary function
timeFrame: through study completion, an average of 1 year
measure: Pulmonary function (Peak flow rate (PEF))
timeFrame: through study completion, an average of 1 year
measure: Pulmonary function (Flow rate 25-75% of forced expiratory volume (FEF 25-75%))
timeFrame: through study completion, an average of 1 year
measure: Respiratory muscle endurance
timeFrame: through study completion, an average of 1 year
measure: Respiratory muscle strength
timeFrame: through study completion, an average of 1 year
measure: Peripheral muscle strength
timeFrame: through study completion, an average of 1 year
measure: Muscle Oxygenation (Local oxygen saturation (SmO2))
timeFrame: through study completion, an average of 1 year
measure: Muscle Oxygenation (Total haemoglobin (THb))
timeFrame: through study completion, an average of 1 year
measure: Physical activity (Total energy expenditure)
timeFrame: through study completion, an average of 1 year
measure: Physical activity (Active energy expenditure (joule / day))
timeFrame: through study completion, an average of 1 year
measure: Physical Activity (Physical activity time (min / day))
timeFrame: through study completion, an average of 1 year
measure: Physical Activity (Average metabolic equivalent (MET / day))
timeFrame: through study completion, an average of 1 year
measure: Physical Activity (Number of steps (steps / day))
timeFrame: through study completion, an average of 1 year
measure: Physical Activity (Time spent lying down (min / day))
timeFrame: through study completion, an average of 1 year
measure: Physical Activity (Sleep time (min / day))
timeFrame: through study completion, an average of 1 year
measure: Pediatric Quality of Life Inventory™ 4.0 (Quality of Life Questionnaire)
timeFrame: through study completion, an average of 1 year
Other outcomes:
Locations:
city: Ankara
country: Turkey
facility: Gazi University, Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Cardiopulmonary Rehabilitation Unit
state: Çankaya
Study officials:
affiliation: Gazi University
name: Meral Boşnak Güçlü, Prof.Dr.
role: STUDY_DIRECTOR
affiliation: Gazi University
name: Riad Bejta, B.sc PT
role: STUDY_CHAIR
affiliation: MH. Dr. Sami Ulus Children's Health and Diseases Training and Research Hospital
name: Caner Aytekin, Assoc. Prof
role: PRINCIPAL_INVESTIGATOR
References:
citation: Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppanen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022 Oct;42(7):1473-1507. doi: 10.1007/s10875-022-01289-3. Epub 2022 Jun 24.
citation: Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020 Jan;40(1):24-64. doi: 10.1007/s10875-019-00737-x. Epub 2020 Jan 17.
citation: Kilic SS, Ozel M, Hafizoglu D, Karaca NE, Aksu G, Kutukculer N. The prevalences [correction] and patient characteristics of primary immunodeficiency diseases in Turkey--two centers study. J Clin Immunol. 2013 Jan;33(1):74-83. doi: 10.1007/s10875-012-9763-3. Epub 2012 Sep 15.
citation: Ameratunga R, Longhurst H, Lehnert K, Steele R, Edwards ESJ, Woon ST. Are All Primary Immunodeficiency Disorders Inborn Errors of Immunity? Front Immunol. 2021 Jul 21;12:706796. doi: 10.3389/fimmu.2021.706796. eCollection 2021. No abstract available.
citation: Hampson FA, Chandra A, Screaton NJ, Condliffe A, Kumararatne DS, Exley AR, Babar JL. Respiratory disease in common variable immunodeficiency and other primary immunodeficiency disorders. Clin Radiol. 2012 Jun;67(6):587-95. doi: 10.1016/j.crad.2011.10.028. Epub 2012 Jan 9.
citation: Verma N, Grimbacher B, Hurst JR. Lung disease in primary antibody deficiency. Lancet Respir Med. 2015 Aug;3(8):651-60. doi: 10.1016/S2213-2600(15)00202-7. Epub 2015 Jul 15.
citation: Modell V, Orange JS, Quinn J, Modell F. Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes. Immunol Res. 2018 Jun;66(3):367-380. doi: 10.1007/s12026-018-8996-5.
citation: Quinti I, Di Pietro C, Martini H, Pesce AM, Lombardi F, Baumghartner M, Colantuono S, Milito C, Tabolli S. Health related quality of life in common variable immunodeficiency. Yonsei Med J. 2012 May;53(3):603-10. doi: 10.3349/ymj.2012.53.3.603.
citation: Routes J, Costa-Carvalho BT, Grimbacher B, Paris K, Ochs HD, Filipovich A, Hintermeyer M, de Melo KM, Workman S, Ito D, Ye X, Bonnet P, Li-McLeod J. Health-Related Quality of Life and Health Resource Utilization in Patients with Primary Immunodeficiency Disease Prior to and Following 12 Months of Immunoglobulin G Treatment. J Clin Immunol. 2016 Jul;36(5):450-61. doi: 10.1007/s10875-016-0279-0. Epub 2016 Apr 18.
citation: Urschel S, Kayikci L, Wintergerst U, Notheis G, Jansson A, Belohradsky BH. Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation. J Pediatr. 2009 Jun;154(6):888-94. doi: 10.1016/j.jpeds.2008.12.020. Epub 2009 Feb 23.
citation: Jesenak M, Banovcin P, Jesenakova B, Babusikova E. Pulmonary manifestations of primary immunodeficiency disorders in children. Front Pediatr. 2014 Jul 25;2:77. doi: 10.3389/fped.2014.00077. eCollection 2014.
citation: Azizi G, Abolhassani H, Asgardoon MH, Alinia T, Yazdani R, Mohammadi J, Rezaei N, Ochs HD, Aghamohammadi A. Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management. Expert Rev Clin Immunol. 2017 Feb;13(2):101-115. doi: 10.1080/1744666X.2016.1224664. Epub 2016 Sep 16.
citation: Manson D, Reid B, Dalal I, Roifman CM. Clinical utility of high-resolution pulmonary computed tomography in children with antibody deficiency disorders. Pediatr Radiol. 1997 Oct;27(10):794-8. doi: 10.1007/s002470050235.
citation: Sowers KL, Litwin BA, Lee ACW, Galantino MLA. Exercise Perception and Behaviors in Individuals Living with Primary Immunodeficiency Disease. J Clin Immunol. 2018 Feb;38(2):174-184. doi: 10.1007/s10875-017-0472-9. Epub 2018 Jan 6.