Pompe DiseaseExercisPompeNCT02654886
Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.
A study testing Resistance Exercise Training in people with Pompe Disease and Muscle Weakness, run by University of California, Irvine at 1 site in United States.
Trial summary
The purpose of this research study is to determine if exercise will help improve muscle strength, endurance, and quality of life in individuals with Pompe disease. This is a research study to further define the outcome of patients with Pompe disease treated with a combined diet and exercise therapy. Read more about this study
- Who is it for?
- Ages 16 to 75 years
- Conditions the study is for
- Pompe Disease, Muscle Weakness
- What is being tested?
- Resistance Exercise Training
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2015to 24 Sep 2019
- 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 16 to 75 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Able to fully consent to the protocol.
- Physically able to perform resistance exercises for 12 weeks.
- Patients with a confirmed diagnosis of Pompe disease.
- Age 16 years to 75 years.
- Currently receiving ERT.
- Patient on ERT for at least 1year.
Who cannot join
- Patients with no confirmed diagnosis of Pompe disease, either by GAA enzyme deficiency from any tissue and/or molecular testing revealing two GAA gene mutations
- Unable to walk or cycle
- Unable to consent to the study/ procedures
- Women who are pregnant or breastfeeding
- Heart disease
- Patients with any metal inside their body such as metallic clips used for vascular repairs and/or implanted devices such as cardiac pacemakers which would prevent them from doing the MRI.
Trial locations and contacts
1 site in 1 country.
United States1 site
UCI ICTS (Institute for Clinical and Translational Science)
Irvine, California, 92697
About this study
Official title: Safety and Effectiveness of Resistance Exercise Training in Patients With Late Onset Pompe Disease- A Pilot Study
The purpose of this research study is to determine if exercise will help improve muscle strength, endurance, and quality of life in individuals with Pompe disease. This is a research study to further define the outcome of patients with Pompe disease treated with a combined diet and exercise therapy.
Read the detailed description
Eligibility: Subjects that are age 16 years or older, have been diagnosed with Pompe disease by genetic testing, and are showing symptoms such as muscle weakness
Time Commitment:
The study will last for 8 months. This study consists of a baseline visit of and return visits at week 9, week 16, week 24, and week 32. At the week 9 visit the subject will be given an individualized exercise plan which will be carried out over the next 24 weeks. The subject will be asked to return for three more visits at week16, week 24 and week 32. The 24 week training period will involve 3 workouts a week approximately 15-30 minutes each. It will also involve a breathing exercise that the subject can do at home twice daily for 10-15 minutes per session. The study visits will include the exercise plan, physical exam, blood draw and questionnaires.
Anticipated Benefits:
The possible benefits include a delay in progression of muscle weakness. The knowledge gained from this study will help researchers understand the effect of exercise on the disease. This may eventually lead to new forms of prevention of symptom onset in the future.
- Conditions
- Pompe Disease, Muscle Weakness
- Being tested
- Resistance Exercise Training
- Keywords
- exercise, Pompe disease, Pompe
- Medical subject headings
- Glycogen Storage Disease Type II, Muscle Weakness, Motor Activity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Resistance Exercise TrainingOther
Resistance Exercise Training: knee extension and elbow flexion each 3 times per week 3 sets each session; 10 reps/set for 6 months
Respiratory muscle strength training: 25 repetitions -twice daily, 6 days/week for 6 months
| Study group | Role | What they receive |
|---|---|---|
| Resistance Exercise Training | Experimental | Participants will be given a regimen of resistance training after a 2 month observation period. Participants will be trained for 6 months (total= 72 training sessions). Two muscle groups (limbs) would be included in the resistance-training program. Participants will also be initiated with Respiratory muscle strength training using pressure-threshold respiratory trainers. Receives: Other: Resistance Exercise Training |
What is being measured
The primary outcome is the main question the study is designed to answer.
Isometric muscle strength change from week 8 through week 32
Measured: Eight months
Secondary outcomes (8)
6 Minute Walk Test change from week 8 through week 32
Measured: Eight months
Maximum Inspiratory Pressures percent change from week 8 through week 32
Measured: Eight months
MRC score change from week 8 through week 32
Measured: Eight months
Muscle volume and texture change from week 8 through week 32 using MR Imaging
Measured: Eight months
Glycogen content change in quadriceps muscle from week 8 through week 32
Measured: Eight months
GAA enzyme activity change from week 8 through week 32
Measured: Eight months
HEX4 change from week 8 through week 32
Measured: Eight months
Other spirometry parameters change from week 8 through week 32
Measured: Eight months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jan 2016 (estimated)
- Study startOct 2015
- Primary completion6 Aug 2018
- Study completion24 Sep 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (10)Papers the sponsor has linked to this study.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- More trials run by University of California, IrvineThe sponsor's other registered studies.
- 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
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of California, Irvine
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Virginia Kimonis, University of California, Irvine
- Investigators
- Virginia Kimonis, MD MRCP, Principal investigator, University of California, Irvine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02654886
- Sponsor's protocol ID
- HS# 2013-9365
- Acronym
- ExercisPompe
- Status last verified
- Sep 2019
- First submitted
- 10 Dec 2015
- Last updated
- 26 Sep 2019
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Yes: Individual participant data will be made available to partcipants after data is published in a peer reviewed journal.
Publications
Bembi B, Pisa FE, Confalonieri M, Ciana G, Fiumara A, Parini R, Rigoldi M, Moglia A, Costa A, Carlucci A, Danesino C, Pittis MG, Dardis A, Ravaglia S. Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis. 2010 Dec;33(6):727-35. doi: 10.1007/s10545-010-9201-8. Epub 2010 Sep 14.
PubMed 20838899Bodamer OA, Leonard JV, Halliday D. Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr. 1997 Aug;156 Suppl 1:S39-42. doi: 10.1007/pl00014270.
PubMed 9266214Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics. 2008 Oct;5(4):569-78. doi: 10.1016/j.nurt.2008.08.009.
PubMed 19019308Slonim AE, Coleman RA, McElligot MA, Najjar J, Hirschhorn K, Labadie GU, Mrak R, Evans OB, Shipp E, Presson R. Improvement of muscle function in acid maltase deficiency by high-protein therapy. Neurology. 1983 Jan;33(1):34-8. doi: 10.1212/wnl.33.1.34.
PubMed 6401355Slonim AE, Bulone L, Goldberg T, Minikes J, Slonim E, Galanko J, Martiniuk F. Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve. 2007 Jan;35(1):70-7. doi: 10.1002/mus.20665.
PubMed 17022069Sveen ML, Jeppesen TD, Hauerslev S, Kober L, Krag TO, Vissing J. Endurance training improves fitness and strength in patients with Becker muscular dystrophy. Brain. 2008 Nov;131(Pt 11):2824-31. doi: 10.1093/brain/awn189. Epub 2008 Sep 6.
PubMed 18776212Terzis G, Dimopoulos F, Papadimas GK, Papadopoulos C, Spengos K, Fatouros I, Kavouras SA, Manta P. Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab. 2011 Nov;104(3):279-83. doi: 10.1016/j.ymgme.2011.05.013. Epub 2011 May 19.
PubMed 21640624Winkel LP, Van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, Loonen MC, Vulto AG, Van Doorn PA, De Jong G, Hop W, Smit GP, Shapira SK, Boer MA, van Diggelen OP, Reuser AJ, Van der Ploeg AT. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol. 2004 Apr;55(4):495-502. doi: 10.1002/ana.20019.
PubMed 15048888Jones HN, Crisp KD, Robey RR, Case LE, Kravitz RM, Kishnani PS. Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining. Mol Genet Metab. 2016 Feb;117(2):120-8. doi: 10.1016/j.ymgme.2015.09.003. Epub 2015 Sep 8.
PubMed 26381077van den Berg LE, Favejee MM, Wens SC, Kruijshaar ME, Praet SF, Reuser AJ, Bussmann JB, van Doorn PA, van der Ploeg AT. Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program. Orphanet J Rare Dis. 2015 Jul 19;10:87. doi: 10.1186/s13023-015-0303-0.
PubMed 26187632
Study at a glance
From the registry record, last updated by the sponsor on 26 Sep 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Safety and Effectiveness of Resistance Exercise Training in Patients With Late Onset Pompe Disease- A Pilot Study
- ClinicalTrials.gov ID
- NCT02654886
- Acronym / sponsor ID
- ExercisPompe / HS# 2013-9365
- Conditions
- Pompe Disease, Muscle Weakness
- Keywords
- exercise, Pompe disease, Pompe
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 10 participants (actual)
- Lead sponsor
- University of California, IrvineUniversity, hospital or other
- Study start
- Oct 2015 (actual)
- Primary completion
- 6 Aug 2018 (actual)
- Study completion
- 24 Sep 2019 (actual)
- First posted
- 13 Jan 2016 (estimated)
- 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.
The purpose of this research study is to determine if exercise will help improve muscle strength, endurance, and quality of life in individuals with Pompe disease. This is a research study to further define the outcome of patients with Pompe disease treated with a combined diet and exercise therapy.
Detailed description
Eligibility: Subjects that are age 16 years or older, have been diagnosed with Pompe disease by genetic testing, and are showing symptoms such as muscle weakness
Time Commitment:
The study will last for 8 months. This study consists of a baseline visit of and return visits at week 9, week 16, week 24, and week 32. At the week 9 visit the subject will be given an individualized exercise plan which will be carried out over the next 24 weeks. The subject will be asked to return for three more visits at week16, week 24 and week 32. The 24 week training period will involve 3 workouts a week approximately 15-30 minutes each. It will also involve a breathing exercise that the subject can do at home twice daily for 10-15 minutes per session. The study visits will include the exercise plan, physical exam, blood draw and questionnaires.
Anticipated Benefits:
The possible benefits include a delay in progression of muscle weakness. The knowledge gained from this study will help researchers understand the effect of exercise on the disease. This may eventually lead to new forms of prevention of symptom onset in the future.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Resistance Exercise Training | Experimental | Other: Resistance Exercise TrainingParticipants will be given a regimen of resistance training after a 2 month observation period. Participants will be trained for 6 months (total= 72 training sessions). Two muscle groups (limbs) would be included in the resistance-training program. Participants will also be initiated with Respiratory muscle strength training using pressure-threshold respiratory trainers. |
Who may qualify
- Ages
- 16 to 75 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- Able to fully consent to the protocol.
- Physically able to perform resistance exercises for 12 weeks.
- Patients with a confirmed diagnosis of Pompe disease.
- Age 16 years to 75 years.
- Currently receiving ERT.
Key exclusion criteria (6 listed)
- Patients with no confirmed diagnosis of Pompe disease, either by GAA enzyme deficiency from any tissue and/or molecular testing revealing two GAA gene mutations
- Unable to walk or cycle
- Unable to consent to the study/ procedures
- Women who are pregnant or breastfeeding
- Heart disease
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 |
|---|---|---|
| Resistance Exercise TrainingResistance Exercise Training: knee extension and elbow flexion each 3 times per week 3 sets each session; 10 reps/set for 6 months Respiratory muscle strength training: 25 repetitions -twice daily, 6 days/week for 6 months | Other | Resistance Exercise Training |
Primary outcome
Isometric muscle strength change from week 8 through week 32
Time frame: Eight months
8 secondary outcomes
6 Minute Walk Test change from week 8 through week 32
Time frame: Eight months
Maximum Inspiratory Pressures percent change from week 8 through week 32
Time frame: Eight months
MRC score change from week 8 through week 32
Time frame: Eight months
Muscle volume and texture change from week 8 through week 32 using MR Imaging
Time frame: Eight months
Glycogen content change in quadriceps muscle from week 8 through week 32
Time frame: Eight months
GAA enzyme activity change from week 8 through week 32
Time frame: Eight months
HEX4 change from week 8 through week 32
Time frame: Eight months
Other spirometry parameters change from week 8 through week 32
Time frame: Eight months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Sep 2019.
- Background: PubMed 20838899Bembi B, Pisa FE, Confalonieri M, Ciana G, Fiumara A, Parini R, Rigoldi M, Moglia A, Costa A, Carlucci A, Danesino C, Pittis MG, Dardis A, Ravaglia S. Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis. 2010 Dec;33(6):727-35. doi: 10.1007/s10545-010-9201-8. Epub 2010 Sep 14.
- Background: PubMed 9266214Bodamer OA, Leonard JV, Halliday D. Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr. 1997 Aug;156 Suppl 1:S39-42. doi: 10.1007/pl00014270.
- Background: PubMed 19019308Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics. 2008 Oct;5(4):569-78. doi: 10.1016/j.nurt.2008.08.009.
- Background: PubMed 6401355Slonim AE, Coleman RA, McElligot MA, Najjar J, Hirschhorn K, Labadie GU, Mrak R, Evans OB, Shipp E, Presson R. Improvement of muscle function in acid maltase deficiency by high-protein therapy. Neurology. 1983 Jan;33(1):34-8. doi: 10.1212/wnl.33.1.34.
- Background: PubMed 17022069Slonim AE, Bulone L, Goldberg T, Minikes J, Slonim E, Galanko J, Martiniuk F. Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve. 2007 Jan;35(1):70-7. doi: 10.1002/mus.20665.
- Background: PubMed 18776212Sveen ML, Jeppesen TD, Hauerslev S, Kober L, Krag TO, Vissing J. Endurance training improves fitness and strength in patients with Becker muscular dystrophy. Brain. 2008 Nov;131(Pt 11):2824-31. doi: 10.1093/brain/awn189. Epub 2008 Sep 6.
- Background: PubMed 21640624Terzis G, Dimopoulos F, Papadimas GK, Papadopoulos C, Spengos K, Fatouros I, Kavouras SA, Manta P. Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab. 2011 Nov;104(3):279-83. doi: 10.1016/j.ymgme.2011.05.013. Epub 2011 May 19.
- Background: PubMed 15048888Winkel LP, Van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, Loonen MC, Vulto AG, Van Doorn PA, De Jong G, Hop W, Smit GP, Shapira SK, Boer MA, van Diggelen OP, Reuser AJ, Van der Ploeg AT. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol. 2004 Apr;55(4):495-502. doi: 10.1002/ana.20019.
- Background: PubMed 26381077Jones HN, Crisp KD, Robey RR, Case LE, Kravitz RM, Kishnani PS. Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining. Mol Genet Metab. 2016 Feb;117(2):120-8. doi: 10.1016/j.ymgme.2015.09.003. Epub 2015 Sep 8.
- Background: PubMed 26187632van den Berg LE, Favejee MM, Wens SC, Kruijshaar ME, Praet SF, Reuser AJ, Bussmann JB, van Doorn PA, van der Ploeg AT. Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program. Orphanet J Rare Dis. 2015 Jul 19;10:87. doi: 10.1186/s13023-015-0303-0.
- Individual participant dataSharing planned: Yes. Individual participant data will be made available to partcipants after data is published in a peer reviewed journal.
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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.
Virginia Kimonis, MD MRCP principal investigator
University of California, Irvine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Resistance Exercise Training in people with Pompe Disease and Muscle Weakness, run by University of California, Irvine at 1 site in United States.
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 6 inclusion and 6 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: finished, as of the sponsor's last update on 26 Sep 2019. 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 States. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Isometric muscle strength change from week 8 through week 32 (time frame: Eight months). 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 NCT02654886, which also lists 10 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 26 Sep 2019.