Neurology
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 appropriate management of Pompe disease requires a skilled multidisciplinary team and individualised decision making. Routine assessments and monitoring are key in the management of Pompe disease, with testing repeated at least every three months, depending on the age of the patient. Baseline values should always be obtained.1
The management options for manifestations of late-onset Pompe disease are summarised below.
- 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
If you suspect Pompe disease, referral to nominated ultra-specialist centre is essential so that patients can access full genetic testing and access to disease-specific therapies. Please refer to our ‘Find a specialist centre’ page to find out more.
NP-NN-GB-00031223
October 2024
- Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267-288.
- Barba-Romero MA, Barrot E, Bautista-Lorite J, et al. Clinical guidelines for late-onset Pompe disease. Rev Neurol. 2012;54(8):497-507.
- Cupler EJ, Berger KI, Leshner RT, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012;45(3):319-333.
2.
When should a neurologist suspect Pompe disease?
