Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up.


Journal

Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602

Informations de publication

Date de publication:
11 10 2023
Historique:
received: 10 07 2023
accepted: 22 09 2023
medline: 13 10 2023
pubmed: 12 10 2023
entrez: 11 10 2023
Statut: epublish

Résumé

In 2011 a 12 weeks personalized exercise training program in 23 mildly affected adult late onset Pompe patients (age 19.6-70.5 years) improved endurance, muscle strength and function. Data on long-term effects of this program or of other physical activity in Pompe disease are absent. This retrospective cohort study aimed to explore effects of long-term healthy physical activity according to the WHO norm and the former exercise training program on the disease course. A total of 29 adult late onset Pompe patients were included: 19 former exercise training program participants and 10 comparable control patients. Patients, who based on interviews, met the 2010 WHO healthy physical activity norm (active, n = 16) performed better on endurance (maximal cardiopulmonary exercise test), muscle strength and function compared to patients not meeting this norm (inactive, n = 13) (p < 0.05). Majority of the outcomes, including endurance and manually tested muscle strength, tended to be higher in the active patients of the 2011 training cohort who continued the program compared to active control patients (p > 0.05). In Pompe disease long-term healthy physical activity according to the 2010 WHO norm leads to physical benefits and a personalized exercise training program may have additional favorable effects and both should be recommended as standard of care.

Sections du résumé

BACKGROUND
In 2011 a 12 weeks personalized exercise training program in 23 mildly affected adult late onset Pompe patients (age 19.6-70.5 years) improved endurance, muscle strength and function. Data on long-term effects of this program or of other physical activity in Pompe disease are absent. This retrospective cohort study aimed to explore effects of long-term healthy physical activity according to the WHO norm and the former exercise training program on the disease course.
RESULTS
A total of 29 adult late onset Pompe patients were included: 19 former exercise training program participants and 10 comparable control patients. Patients, who based on interviews, met the 2010 WHO healthy physical activity norm (active, n = 16) performed better on endurance (maximal cardiopulmonary exercise test), muscle strength and function compared to patients not meeting this norm (inactive, n = 13) (p < 0.05). Majority of the outcomes, including endurance and manually tested muscle strength, tended to be higher in the active patients of the 2011 training cohort who continued the program compared to active control patients (p > 0.05).
CONCLUSION
In Pompe disease long-term healthy physical activity according to the 2010 WHO norm leads to physical benefits and a personalized exercise training program may have additional favorable effects and both should be recommended as standard of care.

Identifiants

pubmed: 37821981
doi: 10.1186/s13023-023-02924-x
pii: 10.1186/s13023-023-02924-x
pmc: PMC10566098
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

319

Informations de copyright

© 2023. Institut National de la Santé et de la Recherche Médicale (INSERM).

Références

van der Ploeg AT, Reuser AJ. Pompe’s disease. Lancet. 2008;372:1342–53.
doi: 10.1016/S0140-6736(08)61555-X pubmed: 18929906
Kuperus E, Kruijshaar ME, Wens SCA, de Vries JM, Favejee MM, van der Meijde JC, et al. Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study. Neurology. 2017;89:2365–73.
doi: 10.1212/WNL.0000000000004711 pubmed: 29117951
de Vries JM, van der Beek NA, Hop WC, Karstens FP, Wokke JH, van Engelen BG, et al. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis. 2012;7:73.
doi: 10.1186/1750-1172-7-73 pubmed: 23013746 pmcid: 3519647
Güngör D, Kruijshaar ME, Plug I, D’Agostino RB, Hagemans ML, van Doorn PA, et al. Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis. 2013;8:49.
doi: 10.1186/1750-1172-8-49 pubmed: 23531252 pmcid: 3623847
Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol. 2013;260:951–9.
doi: 10.1007/s00415-012-6636-x pubmed: 22926164
Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, et al. Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. Neurology. 2019;93:e1756–67.
doi: 10.1212/WNL.0000000000008441 pubmed: 31619483 pmcid: 6946483
Slonim AE, Bulone L, Goldberg T, Minikes J, Slonim E, Galanko J, et al. Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve. 2007;35:70–7.
doi: 10.1002/mus.20665 pubmed: 17022069
Terzis G, Dimopoulos F, Papadimas GK, Papadopoulos C, Spengos K, Fatouros I, et al. Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab. 2011;104:279–83.
doi: 10.1016/j.ymgme.2011.05.013 pubmed: 21640624
Favejee MM, van den Berg LEM, Kruijshaar ME, Wens SC, Praet SF, Pim Pijnappel WW, et al. Exercise Training in Adults With Pompe Disease: The Effects on Pain, Fatigue, and Functioning. Arch Phys Med Rehabil. 2015;96:817–22.
doi: 10.1016/j.apmr.2014.11.020 pubmed: 25499687
van den Berg LE, Favejee MM, Wens SC, Kruijshaar ME, Praet SF, Reuser AJ, et al. 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;10:87.
doi: 10.1186/s13023-015-0303-0 pubmed: 26187632 pmcid: 4506616
Sechi A, Zuccarelli L, Grassi B, Frangiamore R, De Amicis R, Marzorati M, et al. Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study. Orphanet J Rare Dis. 2020;15:143.
doi: 10.1186/s13023-020-01416-6 pubmed: 32505193 pmcid: 7276068
Lee IM, Shiroma EJ, Lobelo F, Puska P, Blair SN, Katzmarzyk PT, et al. Effect of physical inactivity on major non-communicable diseases worldwide: an analysis of burden of disease and life expectancy. Lancet. 2012;380:219–29.
doi: 10.1016/S0140-6736(12)61031-9 pubmed: 22818936 pmcid: 3645500
Schuch FB, Vancampfort D, Richards J, Rosenbaum S, Ward PB, Stubbs B. Exercise as a treatment for depression: A meta-analysis adjusting for publication bias. J Psychiatr Res. 2016;77:42–51.
doi: 10.1016/j.jpsychires.2016.02.023 pubmed: 26978184
Livingston G, Sommerlad A, Orgeta V, Costafreda SG, Huntley J, Ames D, et al. Dementia prevention, intervention, and care. Lancet. 2017;390:2673–734.
doi: 10.1016/S0140-6736(17)31363-6 pubmed: 28735855
McTiernan A, Friedenreich CM, Katzmarzyk PT, Powell KE, Macko R, Buchner D, et al. Physical Activity in Cancer Prevention and Survival: A Systematic Review. Med Sci Sports Exerc. 2019;51:1252–61.
doi: 10.1249/MSS.0000000000001937 pubmed: 31095082 pmcid: 6527123
Santos AC, Willumsen J, Meheus F, Ilbawi A, Bull FC. The cost of inaction on physical inactivity to public health-care systems: a population-attributable fraction analysis. Lancet Glob Health. 2023;11:e32–9.
doi: 10.1016/S2214-109X(22)00464-8 pubmed: 36480931
World Health Organization. Global recommendations on physical activity for health. https://apps.who.int/iris/handle/10665/44399 . Accessed 10 May 2023.
CDC Centers for Disease Control and Prevention. How much physical activity do adults need? https://www.cdc.gov/physicalactivity/basics/adults/index.htm#:~:text=Physical%20activity%20is%20anything%20that,Physical%20Activity%20Guidelines%20for%20Americans . Accessed 10 May 2023.
Jones NL, Makrides L, Hitchcock C, Chypchar T, McCartney N. Normal standards for an incremental progressive cycle ergometer test. Am Rev Respir Dis. 1985;131:700–8.
pubmed: 3923878
Brooks D, Solway S, Gibbons WJ. ATS statement on six-minute walk test. Am J Respir Crit Care Med. 2003;167:1287.
doi: 10.1164/ajrccm.167.9.950 pubmed: 12714344
Medical Research Council. Aids to examination of the peripheral nervous system. London: Her Majesty’s Stationery Office; 1976.
van der Ploeg RJ, Fidler V, Oosterhuis HJ. Hand-held myometry: reference values. J Neurol Neurosurg Psychiatry. 1991;54:244–7.
doi: 10.1136/jnnp.54.3.244 pubmed: 2030353 pmcid: 1014394
van Capelle CI, van der Beek NAME, de Vries JM, van Doorn PA, Duivenvoorden HJ, Leshner RT, et al. The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients. J Inherit Metab Dis. 2012;35:317–23.
doi: 10.1007/s10545-011-9388-3 pubmed: 21912959
American Thoracic Society/European Respiratory Sosciety. ATS/ERS Statement on respiratory muscle testing. Am J Respir Crit Care Med. 2002;166:518–624.
doi: 10.1164/rccm.166.4.518
Quanjer PH, Stanojevic S, Cole TJ, Baur X, Hall GL, Culver BH, et al. Multi-ethnic reference values for spirometry for the 3–95-yr age range: the global lung function 2012 equations. Eur Respir J. 2012;40:1324–43.
doi: 10.1183/09031936.00080312 pubmed: 22743675 pmcid: 3786581
CDC Centers for Disease Control and Prevention. Body Mass Index (BMI). https://www.cdc.gov/healthyweight/assessing/bmi/index.html . Accessed 14 Nov 2022.
Laukkanen JA, Zaccardi F, Khan H, Kurl S, Jae SY, Rauramaa R. Long-term change in cardiorespiratory fitness and all-cause mortality: a population-based follow-up study. Mayo Clin Proc. 2016;91:1183–8.
doi: 10.1016/j.mayocp.2016.05.014 pubmed: 27444976
Preisler N, Laforet P, Madsen KL, Hansen RS, Lukacs Z, Orngreen MC, et al. Fat and carbohydrate metabolism during exercise in late-onset Pompe disease. Mol Genet Metab. 2012;107:462–8.
doi: 10.1016/j.ymgme.2012.08.019 pubmed: 22981821
Tarnopolsky MA, Nilsson MI. Nutrition and exercise in Pompe disease. Ann Transl Med. 2019;7:282.
doi: 10.21037/atm.2019.05.52 pubmed: 31392194 pmcid: 6642937
Arnold J.J. Reuser BS. Chapter 11 Dietary Aspects of Pompe Disease. In: Pompe Disease. 3rd ed. Bremen: UNI-MED Verlag AG; 2022: 149–152.
van Kooten HA, Roelen CHA, Brusse E, van der Beek NAME, Michels M, van der Ploeg AT, et al. Cardiovascular disease in non-classic Pompe disease: a systematic review. Neuromuscul Disord. 2021;31:79–90.
doi: 10.1016/j.nmd.2020.10.009 pubmed: 33386209
Papadimas G, Terzis G, Papadopoulos C, Areovimata A, Spengos K, Kavouras S, et al. Bone density in patients with late onset Pompe disease. Int J Endocrinol Metab. 2012;10:599–603.
doi: 10.5812/ijem.4967 pubmed: 23843830 pmcid: 3693639
Papadimas GK, Terzis G, Methenitis S, Spengos K, Papadopoulos C, Vassilopoulou S, et al. Body composition analysis in late-onset Pompe disease. Mol Genet Metab. 2011;102:41–3.
doi: 10.1016/j.ymgme.2010.09.002 pubmed: 20926325
van den Berg LEM, Zandbergen AA, van Capelle CI, de Vries JM, Hop WC, van den Hout JM, et al. Low bone mass in Pompe disease: Muscular strength as a predictor of bone mineral density. Bone. 2010;47:643–9.
doi: 10.1016/j.bone.2010.06.021 pubmed: 20601298
Bertoldo F, Zappini F, Brigo M, Moggio M, Lucchini V, Angelini C, et al. Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. J Clin Endocrinol Metab. 2015;100:401–6.
doi: 10.1210/jc.2014-2763 pubmed: 25396301
Bull FC, Al-Ansari SS, Biddle S, Borodulin K, Cardon G, Carty C, et al. World Health Organization 2020 guidelines on physical activity and sedentary behaviour. Br J Sports Med. 2020;54:1451–62.
doi: 10.1136/bjsports-2020-102955 pubmed: 33239350

Auteurs

Gamida Ismailova (G)

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Sophia Children's Hospital, Mailbox 2060, 3000 CB, Rotterdam, The Netherlands.

Margreet A E M Wagenmakers (MAEM)

Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Mailbox 2040, 3000 CA, Rotterdam, The Netherlands.

Esther Brusse (E)

Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Mailbox 2040, 3000 CA, Rotterdam, The Netherlands.

Ans T van der Ploeg (AT)

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Sophia Children's Hospital, Mailbox 2060, 3000 CB, Rotterdam, The Netherlands.

Marein M Favejee (MM)

Department of Physical Therapy, Erasmus Medical Center, Mailbox 2040, 3000 CA, Rotterdam, The Netherlands.

Nadine A M E van der Beek (NAME)

Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Mailbox 2040, 3000 CA, Rotterdam, The Netherlands.

Linda E M van den Berg (LEM)

Department of Orthopedics and Sports Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Sophia Children's Hospital, Mailbox 2060, 3000 CB, Rotterdam, The Netherlands. l.e.m.vandenberg@erasmusmc.nl.

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