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

Muscle Weakness Clinical Trial

— ExercisPompe  

Official title:

Safety and Effectiveness of Resistance Exercise Training in Patients With Late Onset Pompe Disease- A Pilot Study

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02654886
• Other study ID #: HS# 2013-9365
• Status: Completed
• Phase: N/A
• Start date: October 2015
• Est. completion date: September 24, 2019

Study information

• Verified date: September 2019
• Source: University of California, Irvine
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 10
• Est. completion date: September 24, 2019
• Est. primary completion date: August 6, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 16 Years to 75 Years

Eligibility

Inclusion Criteria:

1. Able to fully consent to the protocol.

2. Physically able to perform resistance exercises for 12 weeks.

3. Patients with a confirmed diagnosis of Pompe disease.

4. Age 16 years to 75 years.

5. Currently receiving ERT.

6. Patient on ERT for at least 1year.

Exclusion Criteria:

1. 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

2. Unable to walk or cycle

3. Unable to consent to the study/ procedures

4. Women who are pregnant or breastfeeding

5. Heart disease

6. 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.

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Muscle Weakness
• Pompe Disease

Intervention

Other:
• Resistance Exercise Training
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

Locations

Country	Name	City	State
United States	UCI ICTS (Institute for Clinical and Translational Science)	Irvine	California

Sponsors (1)

Lead Sponsor	Collaborator
University of California, Irvine

Country where clinical trial is conducted

United States, 

References & 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. — View Citation

Bodamer OA, Leonard JV, Halliday D. Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr. 1997 Aug;156 Suppl 1:S39-42. Review. — View Citation

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. — View Citation

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. Review. — View Citation

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. — View Citation

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. — View Citation

Sveen ML, Jeppesen TD, Hauerslev S, Køber 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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Isometric muscle strength change from week 8 through week 32		Eight months
Secondary	6 Minute Walk Test change from week 8 through week 32		Eight months
Secondary	Maximum Inspiratory Pressures percent change from week 8 through week 32		Eight months
Secondary	MRC score change from week 8 through week 32		Eight months
Secondary	Muscle volume and texture change from week 8 through week 32 using MR Imaging		Eight months
Secondary	Glycogen content change in quadriceps muscle from week 8 through week 32		Eight months
Secondary	GAA enzyme activity change from week 8 through week 32		Eight months
Secondary	HEX4 change from week 8 through week 32		Eight months
Secondary	Other spirometry parameters change from week 8 through week 32		Eight months