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

Sechi, Annalisa; Zuccarelli, Lucrezia; Grassi, Bruno; Frangiamore, Rita; Amicis, Ramona De; Marzorati, Mauro; Porcelli, Simone; Tullio, Annarita; Bacco, Anna; Bertoli, Simona; Dardis, Andrea; Biasutti, Lea; Pasanisi, Maria Barbara; Devigili, Grazia; Bembi, Bruno

doi:10.1186/s13023-020-01416-6

Cited by 15 publications

(36 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In 13 aLOPD, Sechi et al 24 found no significant change in 6-MWD and other performance tests after a strengthening program alone compared with that in a combined strengthening and diet program. Slonim et al 24 evaluated the effects of an aerobic program combined with diet on the WGMS (baseline of 3.2) over a 10-year follow-up. The 22 most compliant patients in this program showed a significantly slower deterioration of locomotor function (−29%).…”

Section: Resultsmentioning

confidence: 97%

“…Three studies explored physical therapy effects on MMS. 9,23,24 Terzis et al 23 proposed a 20-week training program to 5 aLOPD. It consisted of upper and lower limb strengthening and stretching to be performed 3 days a week.…”

Section: Resultsmentioning

confidence: 99%

“…9,23 A third study, which was an RCT, found no effect of a 26-week strengthening intervention in knee muscles. 24 They suggested that the aLOPD included (n = 13) were too weak for their program to be effective. To date, no study has proposed to combine ERT with a muscle strengthening intervention despite the great potential of their combination for the improvement of motor function and quality of life of aLOPD.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Motor Function Characteristics of Adults With Late-Onset Pompe Disease

Maulet¹,

Bonnyaud²,

Wéill³

et al. 2023

Neurology

View full text Add to dashboard Cite

Background and objectives:Pompe disease is a rare neuromuscular disease caused by a deficiency of the lysosomal enzyme GAA. The late-onset of Pompe disease (LOPD) in adults is characterized by weakness of ventilatory, axial and proximal extremity muscles. These muscle impairments progressively impair various motor functions such as locomotion and postural control. Nearly 87% of adults with LOPD report walking problems and over 80% report instability and falls. Knowledge of these motor functions is now sufficient to provide a clear and comprehensive overview of motor function in adults with LOPD. Therefore, this scoping review aimed to summarize current knowledge about motor function in adults with LOPD. It specifically targeted neuromuscular performance, locomotion and postural control.Methods:A systematic search in MEDLINE (via PubMed), EMBASE and Cochrane databases was conducted until May 2021. We included studies providing primary data on at least four participants exploring neuromuscular performance, locomotion and/or postural control in adults with LOPD. Risk of bias analysis was assessed using tools appropriate to the study designs; ROB 2.0 for randomized controlled trials, ROBIN-I for non-randomized interventional trials, and NOS for cohort studies and case controls.Results:The search identified 2,885 articles. After screening, 58 articles were included in the analysis. In these studies, 88% explored locomotion, 83% neuromuscular performance and 3% postural control. This review showed that adults with LOPD have symmetrical weakness, concerning especially the hip and lumbar muscles. Locomotor activities are limited with a distance reduction, spatiotemporal gait parameter modification and an increased pelvic drop and tilt. Balance disorders are also observed especially in the anteroposterior direction.Discussion:We performed the first review on motor function characteristics in adults with LOPD. Although a significant amount of knowledge was synthesized in this review, our study also highlighted the lack of current research on this topic. Maximal muscle strength was the only neuromuscular performance studied and gait biomechanics and postural control were poorly explored in LOPD. Relationships between the degree of muscle weakness and motor function alterations also remains to be determined in adults with LOPD.

show abstract

Section: Resultsmentioning

confidence: 97%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Motor Function Characteristics of Adults With Late-Onset Pompe Disease

Maulet¹,

Bonnyaud²,

Wéill³

et al. 2023

Neurology

View full text Add to dashboard Cite

show abstract

“…There is only one study on nutritional interventions in LOPD patients receiving chronic ERT. 14 The current standard of care for Pompe disease is the administration of enzyme replacement therapy (ERT), 16 while exercise and nutrition should be considered as complementary strategies rather than “treatments” per se. Nutritional assessment is important in patients with motor disability because the relative lack of exercise limits energy expenditure and thus the total amount of energy must be reduced to avoid obesity.…”

Section: Discussionmentioning

confidence: 99%

“…The lack of studies on nutritional interventions in LOPD patients receiving chronic ERT was only recently partially filled by a study in 11 patients evaluating their VO2 max. 14 …”

Section: Methodsmentioning

confidence: 99%

Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium

Angelini

2021

Eur J Transl Myol

View full text Add to dashboard Cite

Pompe Disease, also known as glycogenosis type 2, is due to deficiency in lysosomal alpha- glucosidase, a lysosomal hydrolase, which presents infantile and late onset subtypes (LOPD). The myopathy in LOPD can be reversed by Enzyme Replacement Therapy (ERT), but might benefit from a concomitant low carbohydrate - high protein diet and aerobic exercise treatment. From 65 Late onset Pompe cases, we were able to obtain in 58 a self-reported evaluation, most of them gave a positive efficacy evaluation of Enzyme Replacement Therapy and they were classified by a self-administered scale as Responders or non-Responders. A cooperative study of a clinical group on LOPD monitored age, sex, BMI, Gardner-Medwin-Walton scale and six minute walking test (6MWT). The only clinical parameters that were significantly associated with a Responder category were the pre-ERT walking distance (p<0.035) and the use of regular diet, exercise or both (p<0.029). The present study shows that in LOPD this condition can be treated by ERT, but also benefits from concomitant diet and aerobic exercise therapy.

show abstract

Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease

Scheffers

Somers

Dulfer

et al. 2023

J of Inher Metab Disea

View full text Add to dashboard Cite

Exercise has proven to be an effective adjuvant treatment to enzyme replacement therapy (ERT) in mildly affected adult Pompe patients. The aim of this study was to investigate the effects of a 12‐week tailored lifestyle intervention, consisting of physical training and a high protein diet (2 grams/kg), in children with Pompe disease. This randomized controlled semi‐crossover trial investigated the effects of a lifestyle intervention on the primary outcome: exercise capacity. Secondary outcomes were: muscle strength, core stability, motor function, physical activity levels, quality of life, fatigue, fear of exercise, caloric intake, energy balance, body composition, and safety. Fourteen Pompe patients with a median age of 10.6 [IQR: 7.2–14.5], of whom six classic infantile patients, participated in the lifestyle intervention. At baseline, patients had a lower exercise capacity compared to healthy peers (median 70.3% [IQR: 54.8%–98.6%] of predicted). After the intervention, absolute Peak VO2 improved significantly (1279 mL/min [1012.5–2006] vs. 1352 mL/min [1101.5–2069], p = 0.039), but not compared to the control period. Muscle strength of the hip flexors, hip abductors, elbow extensors, neck extensors, knee extensors, and core stability improved significantly compared to the control period. Children reported a significant increase on the change in health domain of quality of life, parents reported significantly better scores on the quality of life domains: physical functioning, change in health, family cohesion, and fatigue. A 12‐week tailored lifestyle intervention for children with Pompe disease seemed safe and led to improvements in muscle strength, core stability, quality of life, and parent‐reported fatigue. Pompe patients with a stable disease trajectory seemed to benefit the most from the intervention.

show abstract

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

Cited by 15 publications

References 28 publications

Motor Function Characteristics of Adults With Late-Onset Pompe Disease

Motor Function Characteristics of Adults With Late-Onset Pompe Disease

Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium

Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease

Contact Info

Product

Resources

About