About Pompe disease
Management of Pompe disease
As a rare disease, the understanding and management of Pompe disease continues to evolve as cumulative data becomes available. Amicus’ own medical information, as well as country regional guidelines, are based on current accepted literature. Guidance and text on disease epidemiology, assessments and treatment has been primarily taken from the few key academic references that form the current understanding and expert consensus on Pompe disease.
The management options for manifestations of late-onset Pompe disease are summarised here.
Click on the headings to find out more.
- Routine vaccinations
- Care should be taken with myorelaxant drugs and central nervous system depressants
- No contraindications associated with general anaesthesia
- Muscle strengthening and therapeutic exercise
- Stretching, correction of improper positioning and use of orthotic devices (splints, walkers, canes, wheelchairs) to limit contracture and deformity
- Surgical intervention for progressive spinal deformities
- Supplements (vitamin D and calcium) and bisphosphonate for patients with osteoporosis
- Low oxygen levels, obstructive sleep apnoea and hypoventilation can all be managed with oxygen therapy and/or positive pressure ventilation
- Sedatives should be avoided, and treatment of respiratory infections should be early and aggressive
- For patients with impaired secretion clearance due to weakened cough, bronchodilators can be used alongside airway clearance techniques, assisted coughing manoeuvres and inspiratory muscle training
- Bronchodilators and corticosteroids are useful if the patient is also asthmatic
- Chewing and swallowing problems can cause nutritional issues, so a high-protein and low-carbohydrate diet is recommended
- Vitamin and mineral supplements
- Thickeners to make swallowing liquids more manageable
- Exercises to improve swallowing (supervised by a therapist trained in neuromuscular disorders)
Currently, enzyme-replacement therapy is the only class of disease modifying drug approved for the treatment of Pompe disease.3
Certain requesting specialties can arrange genetic testing to confirm a suspected Pompe disease diagnosis. Individuals diagnosed with Pompe disease should then be referred to a nominated ultra-specialist centre to access disease-specific therapies. Please refer to our ‘Genetic testing for Pompe disease’ page to find out more.
Com-NN-UKI-26-00019
May 2026
- Barba-Romero MA, Barrot E, Bautista-Lorite J, et al. Clinical guidelines for late-onset Pompe disease. Rev Neurol. 2012;54(8):497-507.
- Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267-288.
- Cupler EJ, Berger KI, Leshner RT, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012;45(3):319-333.
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Genetic testing for Pompe disease
