Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study.

Enzyme replacement therapy Exercise tolerance Exercise training High-protein diet Pompe disease

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:
06 06 2020
Historique:
received: 30 03 2020
accepted: 25 05 2020
entrez: 8 6 2020
pubmed: 9 6 2020
medline: 22 6 2021
Statut: epublish

Résumé

Late onset Pompe disease (LOPD) is a lysosomal neuromuscular disorder which can progressively impair the patients' exercise tolerance, motor and respiratory functions, and quality of life. The available enzyme replacement therapy (ERT) does not completely counteract disease progression. We investigated the effect of exercise training alone, or associated with a high-protein diet, on the exercise tolerance, muscle and pulmonary functions, and quality of life of LOPD patients on long term ERT. The patients were asked to participate to a crossover randomized study comprehending a control period (free diet, no exercise) followed by 2 intervention periods: exercise or exercise + diet, each lasting 26 weeks and separated by 13 weeks washout periods. Exercise training included moderate-intensity aerobic exercise on a cycle ergometer, stretching and balance exercises, strength training. The diet was composed by 25-30% protein, 30-35% carbohydrate and 35-40% fat. Before and after each period patients were assessed for: exercise tolerance test on a cycle-ergometer, serum muscle enzymes, pulmonary function tests and SF36 questionnaire for quality of life. Compliance was evaluated by training and dietary diaries. Patients were contacted weekly by researchers to optimize adherence to treatments. Thirteen LOPD patients, median age 49 ± 11 years, under chronic ERT (median 6.0 ± 4.0 years) were recruited. Peak aerobic power (peak pulmonary O Exercise tolerance (as evaluated by peak aerobic power) showed a tendency to decrease in LOPD patients on long term ERT. Exercise training, particularly if combined with high-protein diet, could reverse this decrease and result in an improvement, which was accompanied by improved quality of life. The association of the two lifestyle interventions resulted also in a reduction of muscle enzyme levels and improved pulmonary function.

Sections du résumé

BACKGROUND
Late onset Pompe disease (LOPD) is a lysosomal neuromuscular disorder which can progressively impair the patients' exercise tolerance, motor and respiratory functions, and quality of life. The available enzyme replacement therapy (ERT) does not completely counteract disease progression. We investigated the effect of exercise training alone, or associated with a high-protein diet, on the exercise tolerance, muscle and pulmonary functions, and quality of life of LOPD patients on long term ERT.
METHODS
The patients were asked to participate to a crossover randomized study comprehending a control period (free diet, no exercise) followed by 2 intervention periods: exercise or exercise + diet, each lasting 26 weeks and separated by 13 weeks washout periods. Exercise training included moderate-intensity aerobic exercise on a cycle ergometer, stretching and balance exercises, strength training. The diet was composed by 25-30% protein, 30-35% carbohydrate and 35-40% fat. Before and after each period patients were assessed for: exercise tolerance test on a cycle-ergometer, serum muscle enzymes, pulmonary function tests and SF36 questionnaire for quality of life. Compliance was evaluated by training and dietary diaries. Patients were contacted weekly by researchers to optimize adherence to treatments.
RESULTS
Thirteen LOPD patients, median age 49 ± 11 years, under chronic ERT (median 6.0 ± 4.0 years) were recruited. Peak aerobic power (peak pulmonary O
CONCLUSIONS
Exercise tolerance (as evaluated by peak aerobic power) showed a tendency to decrease in LOPD patients on long term ERT. Exercise training, particularly if combined with high-protein diet, could reverse this decrease and result in an improvement, which was accompanied by improved quality of life. The association of the two lifestyle interventions resulted also in a reduction of muscle enzyme levels and improved pulmonary function.

Identifiants

pubmed: 32505193
doi: 10.1186/s13023-020-01416-6
pii: 10.1186/s13023-020-01416-6
pmc: PMC7276068
doi:

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

143

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Auteurs

Annalisa Sechi (A)

Regional Coordinator Center for Rare Diseases, Academic hospital of Udine, p.zzale SM della Misericordia 15, 33100, Udine, Italy. annalisa.sechi@asufc.sanita.fvg.it.

Lucrezia Zuccarelli (L)

Department of Medicine, University of Udine, Udine, Italy.

Bruno Grassi (B)

Department of Medicine, University of Udine, Udine, Italy.

Rita Frangiamore (R)

Neuroimmunology and Muscle Pathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Ramona De Amicis (R)

International Center for the Assessment of Nutritional Status (ICANS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy.

Mauro Marzorati (M)

Institute of Biomedical Technologies, National Research Council, Segrate, Italy.

Simone Porcelli (S)

Institute of Biomedical Technologies, National Research Council, Segrate, Italy.

Annarita Tullio (A)

Institute of Hygiene and Clinical Epidemiology, Academic hospital of Udine, Udine, Italy.

Anna Bacco (A)

Division of Endocrinology, Metabolic Diseases and Nutrition, Academic Hospital of Udine, Udine, Italy.

Simona Bertoli (S)

International Center for the Assessment of Nutritional Status (ICANS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy.

Andrea Dardis (A)

Regional Coordinator Center for Rare Diseases, Academic hospital of Udine, p.zzale SM della Misericordia 15, 33100, Udine, Italy.

Lea Biasutti (L)

Department of Medicine, University of Udine, Udine, Italy.

Maria Barbara Pasanisi (MB)

Neuroimmunology and Muscle Pathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Grazia Devigili (G)

Neurological Unit 1, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Bruno Bembi (B)

Regional Coordinator Center for Rare Diseases, Academic hospital of Udine, p.zzale SM della Misericordia 15, 33100, Udine, Italy.

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Classifications MeSH