An interventional study of Whole-body exercise and respiratory exercise in Ataxia Telangiectasia in Children and Ataxia Telangiectasia, sponsored by University of Plymouth. Recruiting at 1 site in United Kingdom. Open to participants aged 4 Years to 11 Years. Per ClinicalTrials.gov, last updated 2023-11-29.
Sponsored by University of Plymouth · Not applicable, Interventional, and Treatment
Ataxia telangiectasia is a rare, genetic and progressive condition with no known cure. Therapies present a mainstream management option and have the potential to offer optimisation of fitness and general health. This pilot RCT aims to explore the effectiveness, feasibility, and acceptability of a co-produced home-based complex exercise intervention for children with ataxia telangiectasia. The study was designed through broad consultation with a collaborative of children and young people with A-T including family members, therapists, clinicians and researchers, called the A-Team collaborative (https://osf.io/edzn3/)
Ataxia telangiectasia (A-T) usually presents in early childhood, primarily affecting the pulmonary, neurological and immunological systems. World-wide prevalence estimates vary between 1 in 40,000 and 1 in 100,000 live births. A-T typically presents with cerebellar ataxia in early childhood, generally before the age of four years, such that by early teenage most patients require a wheelchair for mobility. Oculomotor, extrapyramidal and peripheral nervous system problems occur in later childhood and adolescence. Lung disease and difficulties with feeding, swallowing and nutrition are also common. A-T also carries a high risk of malignancy, and life-expectancy for individuals with A-T is decreased, with survival time of 25 years.
People living with A-T require coordinated multi-disciplinary care to optimally manage their complex needs. Symptomatic management and rehabilitation is advocated to improve quality of life and minimize complications that could increase morbidity and mortality. However, the feasibility and acceptability of allied health interventions and outcome measures for this population group are under-researched. Parents participating in a research engagement meeting reported being unclear about how best to deal with the signs and symptoms of A-T at home, how to find help and how and when to access support. This uncertainty is echoed by therapists treating children and adults with ataxia. Evidence is lacking about what type of therapy is needed and how it might be best delivered. The investigators intend to address these concerns and perspectives by investigating the effectiveness, feasibility, and acceptability of a home-based exercise intervention that offers therapeutic interventions for the impairments, activity limitations, and participation restrictions related to A-T.
An extensive review undertaken at the beginning of this overall project scoping the evidence on care and management of A-T provided by allied health professionals and nurses, identified a range of interventions that reportedly positively impact A-T related impairments, together with quality of life, indicating that outcomes can be improved for this population. Through i) considerable and robust engagement to date with key stakeholders (including parents, older children and young adults with A-T, physiotherapists, occupational therapists and charity workers), and ii) evidence from other research studies involving pediatric populations with the same or similar health conditions which indicate the potential benefits of yoga and breathing exercises in optimizing health, fitness and wellbeing, the investigators have identified a strong need for this study.
Objectives
Investigate the feasibility of the complex home-based exercise intervention in terms of:
Investigate the feasibility of the home-based clinical trial design in terms of:
Determine intervention fidelity in terms of:
Analyse the data of this pilot study to
The project that this study is a part of, is funded by Action for A-T and supported for PPIE and recruitment by the A-T Society. Dr Lisa Bunn is the principal investigator and Dr Tracey Parkin the co-principal investigator of this project. A list of all the collaborators of this project is available on the following link- https://osf.io/edzn3/
42 studies on the registry are indexed under Ataxia Telangiectasia; 7 are open to participants now.
This study's planned enrollment of 40 is above the median of 30 across 28 interventional studies indexed under Ataxia Telangiectasia.
Browse Ataxia Telangiectasia studies →University of Plymouth is the lead sponsor of 49 studies on the registry; 16 are open to participants now.
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Exclusion Criteria:
Participants in this group will receive a baseline monitoring period of 1 week, an active remotely supervised and monitored intervention period of 8 weeks and then an unsupervised but monitored follow up period of 4 months. They will be assessed at baseline (T0) and after one week (T1) to determine the sensitivity of the measures. They will then begin their intervention (T2) for a period of 8 weeks. At the end of the intervention phase (T3), assessment will be repeated that will also mark the beginning of a 16 weeks follow up period (T4), during this time they will have the choice to continue the exercises or stop them. At the end of the follow up period, assessment will be carried out again to measure any carry over effects.
Other: Whole-body exercise and respiratory exercise
Participants in this group will receive a baseline monitoring period of 1 week, a control period of 8 weeks, an active remotely supervised and monitored intervention period of 8 weeks and then an unsupervised but monitored follow up period of 2 months. They will be assessed at baseline (T0) and after one week (T1) to determine the sensitivity of the measures. While the early start group receives their 8-week intervention, this group will not receive any intervention during this control period. At the end of 8 weeks, an assessment will be carried out for this group as well (T2). The participants will then begin their intervention (T3) for a period of 8 weeks. At the end of the intervention phase (T4), assessment will be repeated that will mark the beginning of an 8 weeks follow up period (T5), during this time they will have the choice to continue the exercises or stop them. At the end of the follow up period (T6), assessment will be carried out again to measure any carry over effects.
Other: Whole-body exercise and respiratory exercise
The study involves an 8-week intervention involving whole-body and respiratory exercises. The whole-body exercise component will involve doing exercises while watching a total of 32 Comic Kids yoga movies. These movies have been adapted to suit the needs and abilities of the target population. For the first 7 weeks of intervention, children will be provided with 4 yoga movies for each week, providing around 67 minutes of exercise in each week. In the last week of intervention, children will have the choice to practice any 4 exercises of their choice from the 28 movies. The respiratory exercise component will involve watching a 10-minute-long movie that involves practicing different styles of breathing and breath holding. Participants will be provided a respiratory trainer to use while practicing these breathing exercises. Children will be asked to practice these breathing exercises by watching the movie at least 2 days each week.
Also known as: Yoga and breathing exercises
Scale for the Assessment and Rating of Ataxia; to assess change in score between different time points
Scale for the Assessment and Rating of Ataxia (SARA) is a reliable and valid clinical scale used to measure the severity of ataxia. It has eight categories with accumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia); where higher score indicates worse outcomes. SARA was selected as the primary outcome measure as it is a validated tool that is widely used in paediatric population. It has also been successfully used in A-T population in the context of clinical trials of intervention and is validated for remote assessment.
Time frame: Early start group assessments at baseline, week 1, week 9, and week 25; delayed start group assessments at baseline, week 1, week 9, week 17,and week 25
Spirometry to measure slow vital capacity; to assess change in scores between different time points
A spirometer (MIR Spirobank smart spirometer) will be used to measure the respiratory muscle strength. It measures lung function, specifically the volume of air inspired and expired by the lungs. The investigators will use this test to measure slow vital capacity (SVC). SVC is the volume of air expired, through an unforced maneuver; where higher score indicates better outcomes
Time frame: Early start group assessments at baseline, week 1, week 9, and week 25; delayed start group assessments at baseline, week 1, week 9, week 17,and week 25
Spirometry to measure forced vital capacity; to assess change in scores between different time points
A spirometer (MIR Spirobank smart spirometer) will be used to measure the respiratory muscle strength. It measures lung function, specifically the volume of air inspired and expired by the lungs. The investigators will use this test to measure forced vital capacity (FVC). FVC is the maximum amount of air that can be forcibly exhaled from lungs after fully inhaling; where higher score indicates better outcomes.
Time frame: Early start group assessments at baseline, week 1, week 9, and week 25; delayed start group assessments at baseline, week 1, week 9, week 17,and week 25
Spirometry to measure forced expiratory volume in the first second; to assess change in scores between different time points
A spirometer (MIR Spirobank smart spirometer) will be used to measure the respiratory muscle strength. It measures lung function, specifically the volume of air inspired and expired by the lungs. The investigators will use this test to measure forced expiratory volume in the first second (FEV1). FEV1 is the volume of air (in liters) exhaled in the first second during forced exhalation after maximal inspiration; where higher score indicates better outcomes.
Time frame: Early start group assessments at baseline, week 1, week 9, and week 25; delayed start group assessments at baseline, week 1, week 9, week 17,and week 25
Spirometry to measure peak expiratory flow; to assess change in scores between different time points
A spirometer (MIR Spirobank smart spirometer) will be used to measure the respiratory muscle strength. It measures lung function, specifically the volume of air inspired and expired by the lungs. The investigators will use this test to measure peak expiratory flow (PEF). PEF is the volume of air forcefully expelled from the lungs in one quick exhalation; where higher score indicates better outcomes.
Time frame: Early start group assessments at baseline, week 1, week 9, and week 25; delayed start group assessments at baseline, week 1, week 9, week 17,and week 25
Pediatric Evaluation of Disability Inventory Computer Adaptive Test; to assess change in scores between different time points
Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) measures abilities in the domains of daily activities, mobility, social/cognitive, and responsibility. The domains of daily activities, mobility, and social/cognitive are rated on a 4 point difficulty scale with responses ranging from 'Unable' to 'Easy'; where higher score indicates better outcomes. The responsibility domain is rated on a 5 point scale with responses ranging from 'Adult/caregiver has full responsibility; the child does not take any responsibility' to 'Child takes full responsibility without any direction, supervision or guidance from an adult/caregiver'; where higher score indicates better outcomes.
Time frame: Early start group assessments at baseline, week 1, week 9, and week 25; delayed start group assessments at baseline, week 1, week 9, week 17,and week 25
EuroQuol-5Dimensions-Youth scale; to assess change in scores between different time points
EuroQuol-5Dimensions-Youth (EQ-5D-Y) measures quality of life in the following dimensions of health: mobility, looking after myself, doing usual activities, having pain or discomfort, and feeling worried, sad or unhappy. Each dimension has 3 levels: no problems, some problems, and extreme problems; based on the response, scores are assigned between 1 to 3, where higher score indicates worse outcomes.
Time frame: Early start group assessments at baseline, week 1, week 9, and week 25; delayed start group assessments at baseline, week 1, week 9, week 17,and week 25
Plan to share: Yes — The investigators are exploring an intervention on a group of people with a rare condition which is unlikely to ever be fully powered owing to the small population size. Presentation of anonymised raw effectiveness data will therefore be made available with publications in order for future research to build on these results on an international scale should this opportunity arise.
Supporting information: Study protocol, Statistical analysis plan
Time frame: Anticipated in 2024
Access criteria: Anonymised IPD will not be shared until the study is published and available in public domain. It is anticipated to be shared as supplementary data if not embedded within the report.
Data sharing details ↗ · osf.io
Started Jun 2023 (actual). Primary completion is estimated for Jun 2024, 12 months after the start.
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