Treatment Recommendations For Late-Onset Pompe Disease

Publication Date: October 21, 2011
Last Updated: March 14, 2022

Recommendations

Treatment recommendations for the musculoskeletal element of late-onset Pompe disease.
  • Provide patient with information on the following resources:
  • Muscular Dystrophy Association, Acid Maltase Deficiency Association, Pompe Registry, Association for Glycogen Storage Disease, International Pompe Association.
Physical examination and assessments
  • Patients should be examined by a cardiologist and pulmonologist before beginning an exercise program.
  • Screen all patients diagnosed with Pompe disease, regardless of age and wheelchair use, with dual-energy x-ray absorptiometry (DEXA); follow-ups can be considered on a yearly basis.
  • Patients with late-onset Pompe disease and reduced bone density should undergo medical evaluation, including laboratory testing and medication review by an endocrinologist or bone density specialist.
  • Conduct fall risk assessment followed by a formal evaluation for balance and safe gait training for patients at increased risk for osteoporosis and falls.
  • Recommend adaptive equipment, such as a cane or walker, to reduce risk of falls.
Physical/occupational therapy
  • A physical or occupational therapist should develop an exercise program that may include one or more of the following: walking, treadmill, cycling, pool-based program, swimming, submaximal aerobic exercise, or muscle strengthening, that follows the guidelines for other degenerative muscle diseases.
  • Avoid overwork weakness, excessive fatigue, disuse, strenuous exercises, and eccentric contractions
  • Emphasize submaximal aerobic exercise.
  • Incorporate functional activities when possible.
  • Teach patient to monitor heart rate and breathing in relation to exertion.
  • Integrate energy conservation techniques and biomechanical advantages.
  • A preventive stretching regimen should be started early and performed as part of the daily routine to prevent or slow the development of muscle contractures and deformities.
Management of contractures
  • Manage contractures by using orthotic devices, appropriate seating position in the wheelchair, and standing supports.
  • Surgical intervention.
  • Surgical intervention should be considered for scoliosis when the Cobb angle is between 300 and 400.
Vitamins and mineral supplements
  • Recommend vitamin D, calcium, and bisphosphonates, following the guidelines for other neuromuscular disorders.
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Treatment recommendations for the respiratory element of late-onset Pompe disease
  •   Involve a pulmonologist experienced in managing patients with neuromuscular diseases
  •   Up-to-date vaccinations, including vaccination against pneumococcus and influenza
  •   Early and aggressive treatment of bacterial and viral infections
  •   Clear secretions from airways (e.g., cough assist device, suction)
  •   Train/educate patients and families to use assisted cough and inspiratory muscle techniques
  •   Treat sleep-disordered breathing with continuous positive airway pressure (CPAP) or bilevel nocturnal noninvasive ventilation (BiPAP)
  •   In the absence of sleep studies, consider BiPAP ventilation if arterial PCO2 is ≥45 mm Hg, supine forced vital capacity is <50% of predicted, negative inspiratory force is <60 cm H2O, or oxygen saturation falls to <88% for 5 continuous minutes during sleep
  •   Treat concomitant conditions, such as asthma or cardiomyopathy
  •   Consider enzyme replacement therapy
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Treatment recommendations for the gastrointestinal element of late-onset Pompe disease.
  •   Coordinate treatment through a multidisciplinary neuromuscular clinic
  •   Involve an experienced dietitian
  •   Obtain videofluoroscopic swallowing assessment and evaluation for gastroesophageal reflux to guide management of feeding either orally or through a feeding tube
  •   Monitor growth parameters carefully
  •   Provide adequate nutrition consisting of high protein diet (20–25%) with attention to vitamins and minerals
  •   Educate patients about the appropriate use of over-the-counter medications
  •   Patients receiving enzyme replacement therapy should be monitored for IgG antibodies every 3 months for 2 years and then annually thereafter.
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Treatment recommendations based on the stage and severity of Pompe disease

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Condition Recommendation
Presymptomatic patients without objective signs Patients should be examined every 6 months for proximal muscle weakness and pulmonary function.
Enzyme replacement therapy (ERT) should be started at:
  • Onset of symptoms
  • Onset of detectable proximal muscle weakness or reduced forced vital capacity in either upright or supine position.
Presymptomatic patients
with objective signs		 ERT should be started if:
  • Presymptomatic patients have proximal muscle weakness detectable on the Medical Research Council scale or reduced forced vital capacity in either upright or supine position.n
Symptomatic patients ERT should be started if:
  • There is either reduction in forced vital capacity in either upright or supine position or increased limb weakness
  • Patient has difficulty completing activities of daily living
  • Is or is not using noninvasive ventilation.
Severe symptoms If the patient is confined to a wheelchair and is using invasive ventilation during the day and at night:
  • ERT is recommended for 1 year, followed by evaluation of the effectiveness of therapy
  • After one year, ERT is recommended on a case-by-case basis for patients who require continuous invasive ventilation, using the collective information acquired by the multispecialty team
  • Continue ERT if severe signs and symptoms are stabilized or improved.
  • Length of ER Monitoring
 One year followed by reassessment to consider whether to continue the treatment.
Patients receiving enzyme replacement therapy should be monitored for lgG antibodies every 3 months for 2 years, then annually thereafter.

Treatment recommendations based on the experience in Taiwan

The authors recommend the implementation of newborn screening programs in all states to diagnose and properly treat infants with or at risk of developing infantile-onset or late-onset Pompe disease.
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Recommendation Grading

Overview

Title

Treatment Recommendations For Late-Onset Pompe Disease

Authoring Organization

Publication Month/Year

October 21, 2011

Last Updated Month/Year

June 21, 2023

Document Type

Consensus

External Publication Status

Published

Country of Publication

US

Inclusion Criteria

Female, Male, Adolescent, Adult, Child

Health Care Settings

Ambulatory

Intended Users

Speech language pathologist, genetics, dietician nutritionist, nurse, nurse practitioner, physician, physician assistant

Scope

Management, Treatment

Keywords

Pompe disease, autosomal recessive disorder