Ataxia Telangiectasia in ChildrenNCT05692622
Home-based Complex Intervention for Children With Ataxia Telangiectasia
A study testing Whole-body exercise and respiratory exercise in people with Ataxia Telangiectasia in Children and Ataxia Telangiectasia, run by University of Plymouth at 1 site in United Kingdom.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 4 to 11 years
- Conditions the study is for
- Ataxia Telangiectasia in Children, Ataxia Telangiectasia
- What is being tested?
- Whole-body exercise and respiratory exercise
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 1 Jun 2023to 31 Jul 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 to 11 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Diagnosis of A-T confirmed clinically
- Aged 4-11 years
- Able to walk independently (with no or only intermittent support) over 10 metres and stand unaided for 1 minute
- Able to communicate in English either independently or with the assistance of their parent/legal guardian (where parent/guardian is able to communicate in English) or using a translator arranged by the participating family
- Has the ability to assent and parents/legal guardians have the ability to give consent on their child's behalf
Who cannot join
- Those with other/additional diagnoses thought by the study team to probably compromise the intervention, e.g. with significant intellectual disability
- Currently undergoing cancer therapies or acutely unwell
- Children who are participants of another trial/intervention programme
- Non-UK based families
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site, 1 recruiting
- Recruiting
University of Plymouth
Plymouth
Lisa Bunn, PhD, +441752588800, lisa.bunn@plymouth.ac.uk
About this study
Official title: Exploring Effectiveness, Feasibility, and Acceptability of a Novel Home-based Complex Intervention for Children With Ataxia Telangiectasia: a Pilot Randomised Controlled Trial
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/)
Read the detailed description
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
- Assess the effectiveness of the complex home-based exercise intervention on physical function, respiratory muscle strength, participation, and quality of life
- Investigate the feasibility of the complex home-based exercise intervention in terms of:
- online and remote delivery by a multi-disciplinary health profession team with an allied health-professional lead (exploring factors such as undertaking online assessment, supervising exercise and wider trial activities, supporting participants and their families and monitoring safety)
- participant and families' abilities to undertake the exercises (exploring factors such as frequency and duration of exercises, and length of the intervention programme)
- use of a digital platform for accessing exercise movies and sharing feedback and experience with research team and other participating families
- Investigate the feasibility of the home-based clinical trial design in terms of:
- participant recruitment and online consent taking
- online and remote delivery of home-based intervention
- online assessments at four different time points and engagement with extensive trial-based battery of outcome measures
- conducting exit interviews online
- use of the digital platform for trial involvement
- Determine intervention fidelity in terms of:
- the degree to which the intervention is implemented as intended
- frequency, intensity and duration of exercise interventions
- what were the barriers faced (if any) and how were they addressed?
- what were the facilitators (if any) for undertaking the exercises?
- Explore the perception and experiences of parents/legal guardians and children with A-T undertaking the exercises regarding engagement, effectiveness, and acceptability of the intervention
- Analyse the data of this pilot study to
- Select the most appropriate outcome measure and inform design of an onward RCT
- Make recommendations about whether a fully powered trial may be undertaken depending on whether the feasibility of the home-based exercise intervention and the home-based clinical trial design is established.
- Inform the power calculation for the subsequent RCT using the outcome data from this study
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/
- Being tested
- Whole-body exercise and respiratory exercise
- Keywords
- ataxia telangiectasia, ataxia, children, physical therapy, physiotherapy, exercise, yoga, breathing exercise, pilot RCT, complex intervention, home-based intervention
- Medical subject headings
- Ataxia Telangiectasia, Ataxia, Motor Activity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole-body exercise and respiratory exerciseOther
Also called Yoga and breathing exercises
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.
| Study group | Role | What they receive |
|---|---|---|
| Early start group | Experimental | 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. Receives: Other: Whole-body exercise and respiratory exercise |
| Delayed start group | Experimental | 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. Receives: Other: Whole-body exercise and respiratory exercise |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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
Secondary outcomes (6)
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
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jan 2023
- Study start1 Jun 2023
- Primary completion30 Jun 2024 (estimated)
- Study completion31 Jul 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (17)Papers the sponsor has linked to this study.
- Other trials for Ataxia Telangiectasia in ChildrenStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Sequential
- Model description
- A delayed start design will be used in this study
- Masking
- Single blind
- Who is masked
- Outcomes assessor
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Plymouth
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Munira Khan, University of Plymouth
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05692622
- Sponsor's protocol ID
- 3756
- Status last verified
- Nov 2023
- First submitted
- 22 Dec 2022
- Last updated
- 29 Nov 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
Publications
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7.
PubMed 27884168van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group. Ataxia-telangiectasia: recommendations for multidisciplinary treatment. Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20.
PubMed 28318010Taylor et al. Ataxia-telangiectasia in children Guidance on diagnosis and clinical care. Ataxia-Telangiectasia Society. 2014; 1-31
McGrath-Morrow SA, Gower WA, Rothblum-Oviatt C, Brody AS, Langston C, Fan LL, Lefton-Greif MA, Crawford TO, Troche M, Sandlund JT, Auwaerter PG, Easley B, Loughlin GM, Carroll JL, Lederman HM. Evaluation and management of pulmonary disease in ataxia-telangiectasia. Pediatr Pulmonol. 2010 Sep;45(9):847-59. doi: 10.1002/ppul.21277.
PubMed 20583220Reiman A, Srinivasan V, Barone G, Last JI, Wootton LL, Davies EG, Verhagen MM, Willemsen MA, Weemaes CM, Byrd PJ, Izatt L, Easton DF, Thompson DJ, Taylor AM. Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. Br J Cancer. 2011 Aug 9;105(4):586-91. doi: 10.1038/bjc.2011.266. Epub 2011 Jul 26.
PubMed 21792198Amirifar P, Ranjouri MR, Yazdani R, Abolhassani H, Aghamohammadi A. Ataxia-telangiectasia: A review of clinical features and molecular pathology. Pediatr Allergy Immunol. 2019 May;30(3):277-288. doi: 10.1111/pai.13020. Epub 2019 Mar 20.
PubMed 30685876Perlman SL, Boder Deceased E, Sedgewick RP, Gatti RA. Ataxia-telangiectasia. Handb Clin Neurol. 2012;103:307-32. doi: 10.1016/B978-0-444-51892-7.00019-X. No abstract available.
PubMed 21827897Hartley H, Carter B, Bunn L, Pizer B, Lane S, Kumar R, Cassidy E. E-Survey of Current International Physiotherapy Practice for Children with Ataxia Following Surgical Resection of Posterior Fossa Tumour. J Rehabil Med Clin Commun. 2019 Dec 30;2:1000020. doi: 10.2340/20030711-1000020. eCollection 2019.
PubMed 33884121Cassidy E, Reynolds F, Naylor S, De Souza L. Using interpretative phenomenological analysis to inform physiotherapy practice: an introduction with reference to the lived experience of cerebellar ataxia. Physiother Theory Pract. 2011 May;27(4):263-77. doi: 10.3109/09593985.2010.488278. Epub 2010 Aug 26.
PubMed 20795878Ross LJ, Capra S, Baguley B, Sinclair K, Munro K, Lewindon P, Lavin M. Nutritional status of patients with ataxia-telangiectasia: A case for early and ongoing nutrition support and intervention. J Paediatr Child Health. 2015 Aug;51(8):802-7. doi: 10.1111/jpc.12828. Epub 2015 Feb 6.
PubMed 25656498Galantino ML, Galbavy R, Quinn L. Therapeutic effects of yoga for children: a systematic review of the literature. Pediatr Phys Ther. 2008 Spring;20(1):66-80. doi: 10.1097/PEP.0b013e31815f1208.
PubMed 18300936Felix E, Gimenes AC, Costa-Carvalho BT. Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia. Pediatr Pulmonol. 2014 Mar;49(3):238-44. doi: 10.1002/ppul.22828. Epub 2013 Aug 19.
PubMed 23956159Kepenek-Varol B, Gurses HN, Icagasioglu DF. Effects of Inspiratory Muscle and Balance Training in Children with Hemiplegic Cerebral Palsy: A Randomized Controlled Trial. Dev Neurorehabil. 2022 Jan;25(1):1-9. doi: 10.1080/17518423.2021.1905727. Epub 2021 Apr 1.
PubMed 33792496Nissenkorn A, Borgohain R, Micheli R, Leuzzi V, Hegde AU, Mridula KR, Molinaro A, D'Agnano D, Yareeda S, Ben-Zeev B. Development of global rating instruments for pediatric patients with ataxia telangiectasia. Eur J Paediatr Neurol. 2016 Jan;20(1):140-6. doi: 10.1016/j.ejpn.2015.09.002. Epub 2015 Sep 25.
PubMed 26493850Broccoletti T, Del Giudice E, Cirillo E, Vigliano I, Giardino G, Ginocchio VM, Bruscoli S, Riccardi C, Pignata C. Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia. Eur J Neurol. 2011 Apr;18(4):564-70. doi: 10.1111/j.1468-1331.2010.03203.x. Epub 2010 Sep 14.
PubMed 20840352
Study at a glance
From the registry record, last updated by the sponsor on 29 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exploring Effectiveness, Feasibility, and Acceptability of a Novel Home-based Complex Intervention for Children With Ataxia Telangiectasia: a Pilot Randomised Controlled Trial
- ClinicalTrials.gov ID
- NCT05692622
- Acronym / sponsor ID
- 3756
- Keywords
- ataxia telangiectasia, ataxia, children, physical therapy, physiotherapy, exercise, yoga, breathing exercise
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- University of PlymouthUniversity, hospital or other
- Study start
- 1 Jun 2023 (actual)
- Primary completion
- 30 Jun 2024 (estimated)
- Study completion
- 31 Jul 2024 (estimated)
- First posted
- 20 Jan 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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/)
Detailed description
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
- Assess the effectiveness of the complex home-based exercise intervention on physical function, respiratory muscle strength, participation, and quality of life
- Investigate the feasibility of the complex home-based exercise intervention in terms of:
- online and remote delivery by a multi-disciplinary health profession team with an allied health-professional lead (exploring factors such as undertaking online assessment, supervising exercise and wider trial activities, supporting participants and their families and monitoring safety)
- participant and families' abilities to undertake the exercises (exploring factors such as frequency and duration of exercises, and length of the intervention programme)
- use of a digital platform for accessing exercise movies and sharing feedback and experience with research team and other participating families
- Investigate the feasibility of the home-based clinical trial design in terms of:
- participant recruitment and online consent taking
- online and remote delivery of home-based intervention
- online assessments at four different time points and engagement with extensive trial-based battery of outcome measures
- conducting exit interviews online
- use of the digital platform for trial involvement
- Determine intervention fidelity in terms of:
- the degree to which the intervention is implemented as intended
- frequency, intensity and duration of exercise interventions
- what were the barriers faced (if any) and how were they addressed?
- what were the facilitators (if any) for undertaking the exercises?
- Explore the perception and experiences of parents/legal guardians and children with A-T undertaking the exercises regarding engagement, effectiveness, and acceptability of the intervention
- Analyse the data of this pilot study to
- Select the most appropriate outcome measure and inform design of an onward RCT
- Make recommendations about whether a fully powered trial may be undertaken depending on whether the feasibility of the home-based exercise intervention and the home-based clinical trial design is established.
- Inform the power calculation for the subsequent RCT using the outcome data from this study
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/
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Sequential
- Masking
- Single blind (outcomes assessor)
- Number of arms
- 2
- Model description
- A delayed start design will be used in this study
| Arm | Type | Receives |
|---|---|---|
| Early start group | Experimental | Other: Whole-body exercise and respiratory exerciseParticipants 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. |
| Delayed start group | Experimental | Other: Whole-body exercise and respiratory exerciseParticipants 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. |
Who may qualify
- Ages
- 4 to 11 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- Diagnosis of A-T confirmed clinically
- Aged 4-11 years
- Able to walk independently (with no or only intermittent support) over 10 metres and stand unaided for 1 minute
- Able to communicate in English either independently or with the assistance of their parent/legal guardian (where parent/guardian is able to communicate in English) or using a translator arranged by the participating family
- Has the ability to assent and parents/legal guardians have the ability to give consent on their child's behalf
Key exclusion criteria (4 listed)
- Those with other/additional diagnoses thought by the study team to probably compromise the intervention, e.g. with significant intellectual disability
- Currently undergoing cancer therapies or acutely unwell
- Children who are participants of another trial/intervention programme
- Non-UK based families
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Whole-body exercise and respiratory exerciseAlso: Yoga and breathing exercisesThe 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. | Other | Delayed start group, Early start group |
Primary outcome
Scale for the Assessment and Rating of Ataxia; to assess change in score between different time points
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
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.
6 secondary outcomes
Spirometry to measure slow vital capacity; to assess change in scores between different time points
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
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
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
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
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
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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Nov 2023.
- Background: PubMed 27884168Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7.
- Background: PubMed 28318010van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group. Ataxia-telangiectasia: recommendations for multidisciplinary treatment. Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20.
- BackgroundTaylor et al. Ataxia-telangiectasia in children Guidance on diagnosis and clinical care. Ataxia-Telangiectasia Society. 2014; 1-31
- Background: PubMed 20583220McGrath-Morrow SA, Gower WA, Rothblum-Oviatt C, Brody AS, Langston C, Fan LL, Lefton-Greif MA, Crawford TO, Troche M, Sandlund JT, Auwaerter PG, Easley B, Loughlin GM, Carroll JL, Lederman HM. Evaluation and management of pulmonary disease in ataxia-telangiectasia. Pediatr Pulmonol. 2010 Sep;45(9):847-59. doi: 10.1002/ppul.21277.
- Background: PubMed 21792198Reiman A, Srinivasan V, Barone G, Last JI, Wootton LL, Davies EG, Verhagen MM, Willemsen MA, Weemaes CM, Byrd PJ, Izatt L, Easton DF, Thompson DJ, Taylor AM. Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. Br J Cancer. 2011 Aug 9;105(4):586-91. doi: 10.1038/bjc.2011.266. Epub 2011 Jul 26.
- Background: PubMed 30685876Amirifar P, Ranjouri MR, Yazdani R, Abolhassani H, Aghamohammadi A. Ataxia-telangiectasia: A review of clinical features and molecular pathology. Pediatr Allergy Immunol. 2019 May;30(3):277-288. doi: 10.1111/pai.13020. Epub 2019 Mar 20.
- Background: PubMed 21827897Perlman SL, Boder Deceased E, Sedgewick RP, Gatti RA. Ataxia-telangiectasia. Handb Clin Neurol. 2012;103:307-32. doi: 10.1016/B978-0-444-51892-7.00019-X. No abstract available.
- Background: PubMed 33884121Hartley H, Carter B, Bunn L, Pizer B, Lane S, Kumar R, Cassidy E. E-Survey of Current International Physiotherapy Practice for Children with Ataxia Following Surgical Resection of Posterior Fossa Tumour. J Rehabil Med Clin Commun. 2019 Dec 30;2:1000020. doi: 10.2340/20030711-1000020. eCollection 2019.
- Background: PubMed 20795878Cassidy E, Reynolds F, Naylor S, De Souza L. Using interpretative phenomenological analysis to inform physiotherapy practice: an introduction with reference to the lived experience of cerebellar ataxia. Physiother Theory Pract. 2011 May;27(4):263-77. doi: 10.3109/09593985.2010.488278. Epub 2010 Aug 26.
- Background: PubMed 25656498Ross LJ, Capra S, Baguley B, Sinclair K, Munro K, Lewindon P, Lavin M. Nutritional status of patients with ataxia-telangiectasia: A case for early and ongoing nutrition support and intervention. J Paediatr Child Health. 2015 Aug;51(8):802-7. doi: 10.1111/jpc.12828. Epub 2015 Feb 6.
- Background: PubMed 18300936Galantino ML, Galbavy R, Quinn L. Therapeutic effects of yoga for children: a systematic review of the literature. Pediatr Phys Ther. 2008 Spring;20(1):66-80. doi: 10.1097/PEP.0b013e31815f1208.
- Background: PubMed 23956159Felix E, Gimenes AC, Costa-Carvalho BT. Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia. Pediatr Pulmonol. 2014 Mar;49(3):238-44. doi: 10.1002/ppul.22828. Epub 2013 Aug 19.
- Individual participant dataSharing planned: 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.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Whole-body exercise and respiratory exercise in people with Ataxia Telangiectasia in Children and Ataxia Telangiectasia, run by University of Plymouth at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 29 Nov 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Lisa Bunn, PhD (+44 1752 588800, lisa.bunn@plymouth.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Scale for the Assessment and Rating of Ataxia; to assess change in score between different time points (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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05692622, which also lists 17 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Nov 2023.