Reduced Efficacy of Enzyme Replacement Therapy in a Child with Late-Onset Pompe Disease

Satoru Takahashi,Ryosuke Tanaka

doi:10.4172/2161-0665.1000290

Satoru Takahashi, Ryosuke Tanaka

Open Access

https://doi.org/10.4172/2161-0665.1000290

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Abstract

Pompe disease is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase (GAA), resulting in failure of lysosomal glycogen degradation. Patients with late-onset Pompe disease experience progressive muscle weakness and decreased respiratory function. Enzyme replacement therapy (ERT) for lateonset Pompe disease became available for clinical use in 2006. Clinical studies have since demonstrated beneficial effects on motor and respiratory functions in treatment periods up to 4 years. We report an 8-year period wherein a patient with late-onset Pompe disease received ERT with recombinant human GAA. The patient initially showed marked improvement in motor functions. However, these improvements stopped approximately 5 years after ERT, followed by progressive declines in muscle strength. Our case demonstrates that resistance to ERT might develop after long-term treatment. Elucidating the underlying mechanism is expected to have significant implications for the development of new therapeutic strategies in patients with late-onset Pompe disease.

Highlights

Pompe disease, an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase (GAA), results in failure of lysosomal glycogen degradation, leading to a progressive glycogen accumulation in tissues
We report here an 8-year period wherein a patient with late-onset Pompe disease received Enzyme replacement therapy (ERT)
The patient initially improved in terms of motor functions, but began to deteriorate after 4-5 years on ERT

Summary

Introduction

An autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase (GAA), results in failure of lysosomal glycogen degradation, leading to a progressive glycogen accumulation in tissues. Patients with late-onset Pompe disease experience progressive muscle weakness and decreased respiratory function. Enzyme replacement therapy (ERT) for Pompe disease supplements deficient GAA by intravenous administration of recombinant human GAA (rhGAA). ERT treatment is effective in stabilizing motor and respiratory functions in late-onset Pompe disease [1].

Results

Conclusion