Diet and Exercise in Pompe Disease

Pompe Disease Clinical Trial

Official title:

A Pilot Study of Diet and Exercise Therapy in Pompe Disease

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02363153
• Other study ID #: IRB201400844
• Status: Completed
• Phase: N/A
• Start date: November 6, 2017
• Est. completion date: May 12, 2021

Study information

• Verified date: May 2021
• Source: University of Florida
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

This study examines the effects of individualized diet and exercise plans on muscle strength, quality of life and respiratory function in Pompe disease. Subjects will be given a diet and exercise plan based on their individual needs, which will be followed for 16 weeks. Participants will also be provided with an activity tracker in order to track their exercise activities, access to an app that will allow them to input their daily food intake, and they will also come to the University of Florida for exercise tests, respiratory tests and questionnaires.

Description:

Pompe is a rare disease, which occurs in approximately 1 in 40,000 births. It is a progressive and often fatal neuromuscular disorder resulting from a mutation in the gene for acid alpha- glucosidase (GAA), an enzyme necessary for the degradation of glycogen. Common symptoms include skeletal and smooth muscle myopathy, resulting in respiratory insufficiency, peripheral muscle weakness and generalized fatigue.

The progressive myopathy in Pompe disease seems to be influenced by increased muscle protein breakdown. The increased muscle protein breakdown leads to muscle wasting, weakness, increased resting energy expenditure and, consequently, increased fatigue. Our hypothesis is that a high protein, low carbohydrate diet associated with regular physical exercise will improve respiratory and peripheral muscle functions in Pompe disease.

In this study, we will investigate the effects of 16 weeks of planned diet and exercise in adolescent and young adult (15-55 years old) individuals with Pompe disease using an activity tracker.

The participant will be asked to come to the University of Florida 4 times throughout the study (screening, baseline, +/- 15 days of completing the diet and exercise plan and a follow up three months later) for exercise testing, quality of life questionnaires, respiratory function testing and blood draws.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 2
• Est. completion date: May 12, 2021
• Est. primary completion date: May 12, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 15 Years to 55 Years

Eligibility

Inclusion Criteria:

• Male or female subjects 15-55 years of age;

• Have a diagnosis of Pompe disease, as defined by protein assay and/or DNA sequence of the acid alpha-glucosidase gene, with present clinical symptoms of the disease;

• Be naïve to ERT or receiving ERT for at least eighteen months prior to beginning study;

• Be able to walk at least 40m in the 6 minute walk test.

• Willing to comply with study requirements

Exclusion Criteria:

• Be pregnant;

• Be in the lower limit for pulmonary function; FVC < 30% predicted;

• Be dependent on assisted ventilation;

• Be dependent on wheelchair;

• Have evidence of clinical heart failure;

• Have any contraindication to exercise

Related Conditions & MeSH terms

• Glycogen Storage Disease
• Glycogen Storage Disease Type II
• Lysosomal Storage Diseases
• Metabolic Diseases
• Pompe Disease

Intervention

Other:
• Diet and Exercise
Exercise will consist of 2x/week aerobic exercise, 2x/week strength training and 1x/week core-stabilizing exercise. Diet will be constructed so that 30% of the daily caloric goal will be protein, 35% fat, and 35% carbohydrates.

Locations

Country	Name	City	State
United States	University of Florida Clinical Research Center	Gainesville	Florida

Sponsors (2)

Lead Sponsor	Collaborator
University of Florida	Amicus Therapeutics

Country where clinical trial is conducted

United States, 

References & Publications (14)

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

Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012 Mar;45(3):319-33. doi: 10.1002/mus.22329. Epub 2011 Dec 15. Review. — View Citation

Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, Van der Ploeg AT. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005 Mar;128(Pt 3):671-7. Epub 2005 Jan 19. — View Citation

Hesselink RP, Wagenmakers AJ, Drost MR, Van der Vusse GJ. Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. Biochim Biophys Acta. 2003 Mar 20;1637(2):164-70. Review. — View Citation

Jones HN, Crisp KD, Asrani P, Sloane R, Kishnani PS. Quantitative assessment of lingual strength in late-onset Pompe disease. Muscle Nerve. 2015 May;51(5):731-5. doi: 10.1002/mus.24523. Epub 2015 Jan 16. — View Citation

Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Pompe disease diagnosis and management guideline. Genet Med. 2006 May;8(5):267-88. Erratum in: Genet Med. 2006 Jun;8(6):382. ACMG Work Group on Management of Pompe Disease [removed]; Case, Laura [corrected to Case, Laura E]. — View Citation

Laforêt P, Nicolino M, Eymard PB, Puech JP, Caillaud C, Poenaru L, Fardeau M. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology. 2000 Oct 24;55(8):1122-8. — 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

Scriver CR. The metabolic & molecular bases of inherited disease. 8th ed. ed. New York: McGraw-Hill; 2001.

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

van den Berg LE, Zandbergen AA, van Capelle CI, de Vries JM, Hop WC, van den Hout JM, Reuser AJ, Zillikens MC, van der Ploeg AT. Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density. Bone. 2010 Sep;47(3):643-9. doi: 10.1016/j.bone.2010.06.021. Epub 2010 Jun 25. — View Citation

van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010 Apr 15;362(15):1396-406. doi: 10.1056/NEJMoa0909859. — View Citation

Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, Florence JM, Mayhew J, Skrinar A, Corzo D, Laforet P. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve. 2008 Oct;38(4):1236-45. doi: 10.1002/mus.21025. — View Citation

* Note: There are 14 references in all — Click here to view all references

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in results of Brief Patient-Reported Outcomes Quality of Life (PROQOL)	The PROQOL assesses quality of life and health status to improve patient care	Baseline, Month 4
Primary	Change in FVC	Forced Vital Capacity (FVC) is the amount of air that can be forcefully exhaled after a full inspiration, and is an indicator of overall respiratory function	Baseline, Month 4
Primary	Change in overall QMT score	Quantitative muscle testing (QMT) measures peripheral muscle strength	Baseline, Month 4
Secondary	Compliance to diet and exercise plans	Patients will be evaluated on their compliance to the diet and exercise plan they are assigned, by comparing activities assigned vs. activities completed	Month 4