Lifestyle modifications appear to decrease debilitating symptoms of Pompe disease (PD), according to a study recently published in the Journal of Inherited Metabolic Disease.

“We think exercise training as adjuvant therapy to [enzyme replacement therapy] cannot change the progression of the disease, especially in the classic infantile patients,” the authors wrote.

This prospective interventional study included 14 patients aged between 7.2 and 14.5 years, with a median age of 10.6 years. Distribution according to sex was almost equal, with 57% of the cohort being female. Most patients had either the classic-infantile subtype or the childhood-onset subtype, with 6 patients in each group, while only 2 had atypical infantile PD. All participants except 1 received enzyme replacement therapy.

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Each patient had tailored exercise and diet recommendations. Almost all (94.4%) of the participants attended all 36 training sessions. The median exercise capacity was 70.3% of predicted in the first evaluation. After 12 weeks of the exercise program, the muscle strength of the cervical extensors, hip flexors and abductors, elbow extensors, and knee extensors markedly improved. Likewise, core stability and absolute peak oxygen uptake showcased better results after completing the training program. 

Regarding self-reported symptoms, parents noted an improvement in 4 quality of life domains, including changes in health, family cohesion, fatigue, and physical functioning. Similarly, children also reported a better score on the change in health item of the questionnaire. 

Although these results are promising, some adjustments are still needed. For example, younger participants perceived the training as boring towards the end of the program. In addition, the impact of this intervention varied according to the progression of the disease. These findings suggest that a tailored approach is of great importance when implementing this strategy.

“In those with (classic infantile) Pompe disease that show a rapidly progressive course of disease, lower intensity and frequency training (including core stability) under close supervision of a physical therapist, should be encouraged to prevent scoliosis, contractures and improve fatigue,” the authors concluded.


Scheffers LE, Somers OC, Dulfer K, et al. Physical training and high protein diet improved muscle strength, parent-reported fatigue and physical quality of life in children with Pompe disease. J Inherit Metab Dis. Published online April 1, 2023. doi:10.1002/jimd.12607