Effects of exercise on Pompe disease

Prospectively registered

Protocol

Statistical analysis plan

Results

Individual participant data

Plain English summary of protocol

Plain English Summary under review.

Mr Stephen Dando
Scientific

Charles Dent Metabolic Unit, Queen Square
London
WC1N 3BG
United Kingdom

Primary study design	Interventional
Study design	Non-randomised; Interventional; Design type: Treatment
Secondary study design	Randomised controlled trial
Study type	Participant information sheet
Scientific title	A pilot study to investigate the effect of aerobic exercise training in adults with Pompe disease
Study objectives	The aim of this study is to investigate the effects of home based aerobic exercises on muscle and respiratory function, mobility and strength. The effects of cycling while receiving ERT will also be investigated.
Ethics approval(s)	15/LO/0952
Health condition(s) or problem(s) studied	Topic: Metabolic and endocrine disorders, Musculoskeletal disorders; Subtopic: Metabolic and Endocrine (all Subtopics), Musculoskeletal (all Subtopics); Disease: Metabolic & Endocrine (not diabetes)
Intervention	Exercise, Cycling during Hospital based infusion. Participants will complete the initial, 3 month and final assessments and exercise testing at designated specialist centers in the UK.
Intervention type	Other
Primary outcome measure(s)	Walking ability measured using a 6 minute walk test (6MWT) which will be recorded at baseline, 3 months and 6 months.
Key secondary outcome measure(s)	N/A
Completion date	16/09/2016

Participant type(s)	Patient
Age group	Adult
Sex	All
Target sample size at registration	16
Total final enrolment	11
Key inclusion criteria	1. Aged between 16 and 70 years 2. Genetically proven diagnosis of late-onset Pompe disease 3. Attending Lysosome Centres in England 4. Can complete >50m in 6 minute walk test 5. Can transfer safely and independently on and off cycle ergometer 6. Can participate in all objective testing 7. Willing and able to attend specialist treatment centres 8. Willing to receive exercise testing and supervision in their own home
Key exclusion criteria	1. Have been receiving Enzyme Replacement Therapy for less than 12 months 2. Able to walk more then 550m 3. Dependent on invasive ventilation during the day 4. Have cardiac issues for which exercise would not be recommended 5. Any current or previous orthopaedic medical condition for which exercise is contraindicated
Date of first enrolment	16/09/2015
Date of final enrolment	16/09/2016

Charles Dent Metabolic Unit

University College London Hospital
Queen Square
London
WC1N 3BG
United Kingdom

Individual participant data (IPD) Intention to share	No
IPD sharing plan summary	Not provided at time of registration
IPD sharing plan

Output type	Details	Date created	Date added	Peer reviewed?	Patient-facing?
Abstract results	results presented at the Society for Inherited Metabolic Disorders meeting 2016	01/01/2017	15/04/2019	No	No
HRA research summary			28/06/2023	No	No
Participant information sheet	Participant information sheet	11/11/2025	11/11/2025	No	Yes

15/04/2019: The following changes have been made:
1. Publication reference added.
2. The total final enrolment has been added.