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Updated: May 26, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Consensus treatment recommendations for late-onset Pompe disease
Edward J Cupler1, Kenneth I Berger, Robert T Leshner
1Department of Neurology, Oregon Health & Science University, Portland, Oregon, USA.
Muscle & Nerve
|December 17, 2011
Summary
Recommendations for late-onset Pompe disease (LOPD) suggest immediate enzyme replacement therapy (ERT) for symptomatic patients. A multidisciplinary approach is crucial for managing this rare genetic disorder.
Area of Science:
- Biochemistry
- Genetics
- Rare Diseases
Background:
- Pompe disease is a rare, autosomal recessive disorder.
- It results from a deficiency in the lysosomal enzyme acid alpha-glucosidase, which degrades glycogen.
- Late-onset Pompe disease (LOPD) presents heterogeneously, mimicking other neuromuscular disorders.
Observation:
- A systematic literature review was conducted by a panel of Pompe disease specialists.
- The objective was to establish consensus-based treatment and management guidelines for LOPD.
Findings:
- Immediate enzyme replacement therapy (ERT) is recommended for presymptomatic patients with subtle signs and symptomatic patients.
- Presymptomatic patients without symptoms or objective signs should be monitored without ERT.
- Patient condition requires reevaluation after one year of ERT to determine continued necessity.
Implications:
- Multidisciplinary care is essential for addressing pulmonary, neuromuscular, orthopedic, and gastrointestinal aspects of LOPD.
- Timely ERT initiation for eligible patients may alter disease progression.
- Regular reassessment of ERT efficacy is critical for personalized patient management.
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