Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.

NCT02654886 | Completed DMC

• 1 other identifier: HS# 2013-9365
• Study Type: interventional
• Target: 10
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Pompe Disease; Muscle Weakness

Keywords

exercise; Pompe disease; Pompe

Outcome Measures

Primary Outcomes (1)

• Isometric muscle strength change from week 8 through week 32

  Eight months

Secondary Outcomes (8)

• 6 Minute Walk Test change from week 8 through week 32

  Eight months

• Maximum Inspiratory Pressures percent change from week 8 through week 32

  Eight months

• MRC score change from week 8 through week 32

  Eight months

• Muscle volume and texture change from week 8 through week 32 using MR Imaging

  Eight months

• Glycogen content change in quadriceps muscle from week 8 through week 32

  Eight months

Study Arms (1)

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.

Other: Resistance Exercise Training

Interventions

Resistance Exercise Training OTHER

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

Resistance Exercise Training

Eligibility Criteria

• Age: 16 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of California, Irvine: lead

Study Sites (1)

UCI ICTS (Institute for Clinical and Translational Science)

Irvine, California, 92697, United States

Location

Related Publications (10)

• 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.

  PMID: 20838899 BACKGROUND

• Bodamer 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.

  PMID: 9266214 BACKGROUND

• Schoser 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.

  PMID: 19019308 BACKGROUND

• Slonim 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.

  PMID: 6401355 BACKGROUND

• Slonim 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.

  PMID: 17022069 BACKGROUND

• Sveen 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.

  PMID: 18776212 BACKGROUND

• Terzis 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.

  PMID: 21640624 BACKGROUND

• Winkel 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.

  PMID: 15048888 BACKGROUND

• Jones 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.

  PMID: 26381077 BACKGROUND

• van 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.

  PMID: 26187632 BACKGROUND

MeSH Terms

Conditions

Glycogen Storage Disease Type II; Muscle Weakness; Motor Activity

Interventions

Resistance Training

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Manifestations; Neurologic Manifestations; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Behavior

Intervention Hierarchy (Ancestors)

Exercise Therapy; Rehabilitation; Aftercare; Continuity of Patient Care; Patient Care; Therapeutics; Physical Therapy Modalities; Physical Conditioning, Human; Exercise; Motor Activity; Movement; Musculoskeletal Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena

Study Officials

• Virginia Kimonis, MD MRCP

  University of California, Irvine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: December 10, 2015
• First Posted: January 13, 2016
• Study Start: October 1, 2015
• Primary Completion: August 6, 2018
• Study Completion: September 24, 2019
• Last Updated: September 26, 2019

Record last verified: 2019-09

Data Sharing

• IPD Sharing: Will share

Locations

US (1)