Home-based Complex Intervention for Children With Ataxia Telangiectasia

NCT05692622 | Unknown

• 1 other identifier: 3756
• Study Type: interventional
• Target: 40
• Locations: 1 country
• Sites: 1

Brief 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. 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/)

Conditions

Ataxia Telangiectasia in Children; Ataxia Telangiectasia

Keywords

ataxia telangiectasia; ataxia; children; physical therapy; physiotherapy; exercise; yoga; breathing exercise; pilot RCT; complex intervention; home-based intervention

Outcome Measures

Primary Outcomes (1)

• 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.

  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

  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

  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

  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

  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

  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

Study Arms (2)

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.

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.

Other: Whole-body exercise and respiratory exercise

Interventions

Whole-body exercise and respiratory exercise OTHER

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

Delayed start group; Early start group

Eligibility Criteria

• Age: 4 Years - 11 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Plymouth: lead

Study Sites (1)

University of Plymouth

Plymouth, United Kingdom

RECRUITING

Related Publications (17)

• 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.

  PMID: 27884168 BACKGROUND

• van 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.

  PMID: 28318010 BACKGROUND

• Taylor et al. Ataxia-telangiectasia in children Guidance on diagnosis and clinical care. Ataxia-Telangiectasia Society. 2014; 1-31

  BACKGROUND

• 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.

  PMID: 20583220 BACKGROUND

• Reiman 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.

  PMID: 21792198 BACKGROUND

• Amirifar 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.

  PMID: 30685876 BACKGROUND

• Perlman 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.

  PMID: 21827897 BACKGROUND

• Hartley 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.

  PMID: 33884121 BACKGROUND

• Cassidy 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.

  PMID: 20795878 BACKGROUND

• Ross 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.

  PMID: 25656498 BACKGROUND

• Galantino 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.

  PMID: 18300936 BACKGROUND

• Felix 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.

  PMID: 23956159 BACKGROUND

• Kepenek-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.

  PMID: 33792496 BACKGROUND

• Nissenkorn 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.

  PMID: 26493850 BACKGROUND

• Broccoletti 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.

  PMID: 20840352 BACKGROUND

• Russo I, Cosentino C, Del Giudice E, Broccoletti T, Amorosi S, Cirillo E, Aloj G, Fusco A, Costanzo V, Pignata C. In ataxia-teleangiectasia betamethasone response is inversely correlated to cerebellar atrophy and directly to antioxidative capacity. Eur J Neurol. 2009 Jun;16(6):755-9. doi: 10.1111/j.1468-1331.2009.02600.x.

  PMID: 19475758 BACKGROUND

• Tai G, Corben LA, Woodcock IR, Yiu EM, Delatycki MB. Determining the Validity of Conducting Rating Scales in Friedreich Ataxia through Video. Mov Disord Clin Pract. 2021 Apr 6;8(5):688-693. doi: 10.1002/mdc3.13204. eCollection 2021 Jul.

  PMID: 34307740 BACKGROUND

MeSH Terms

Conditions

Ataxia Telangiectasia; Ataxia; Motor Activity

Interventions

Yoga; Breathing Exercises

Condition Hierarchy (Ancestors)

Spinocerebellar Ataxias; Cerebellar Ataxia; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurocutaneous Syndromes; Dyskinesias; Neurologic Manifestations; Telangiectasis; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Primary Immunodeficiency Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Immunologic Deficiency Syndromes; Immune System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Behavior

Intervention Hierarchy (Ancestors)

Mind-Body Therapies; Complementary Therapies; Therapeutics; Spiritual Therapies; Exercise Movement Techniques; Physical Therapy Modalities

Central Study Contacts

Lisa Bunn, PhD

CONTACT

+44 1752 588800; lisa.bunn@plymouth.ac.uk

Tracey Parkin, PhD

CONTACT

+44 1752 588827; tracey.parkin@plymouth.ac.uk

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Masking Details: The participants will not be blinded to group allocation as both the groups will receive the same intervention, just at different time points. The principal investigator will not be blinded to the group allocation either as they will be the lead contact with the participants, monitoring their progress and engagement. The physiotherapist who will be carrying out outcome assessments will be blinded to the group allocation and not be made aware of the different timelines and structure of the trial
• Purpose: TREATMENT
• Intervention Model: SEQUENTIAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Model Details: A delayed start design will be used in this study

Study Record Dates

• First Submitted: December 22, 2022
• First Posted: January 20, 2023
• Study Start: June 1, 2023
• Primary Completion: June 30, 2024
• Study Completion: July 31, 2024
• Last Updated: November 29, 2023

Record last verified: 2023-11

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP
• 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.

Locations

GB (1)