Supporting Long-Term Respiratory Health in Pompe Disease
Update – November 2015
While the Emergency Medical Information & Alert Card focuses on what to do in the moment of a medical emergency, long-term respiratory management plays an equally vital role in maintaining quality of life for people with Pompe disease.
This companion page brings together clinical research, expert recommendations, and practical in-clinic guidance to support both healthcare professionals and families in managing ongoing respiratory care.
Here you’ll find selected publications by Dr. John R. Bach, a pioneer in noninvasive ventilation and airway-clearance strategies, as well as additional materials that reflect AMDA’s ongoing commitment to sharing evidence-based resources for the Pompe community.
These materials are for educational purposes and should be reviewed in consultation with qualified healthcare providers familiar with neuromuscular disorders.
Publications by Dr. John Bach
Clinical Research & Publications
Dr. John R. Bach, MD, has been a leading authority on noninvasive respiratory management for patients with neuromuscular disorders.
His work has redefined standards of care by demonstrating how ventilatory aids and mechanical insufflation–exsufflation (MI-E) can prevent tracheostomy, improve survival, and enhance quality of life for individuals with Pompe disease and related conditions.
Below are selected publications frequently referenced by clinicians managing respiratory complications in Pompe disease:
Respiratory Muscle Aids to Avert Respiratory Failure and Tracheostomy: A New Patient Management Paradigm
Journal of Neurorestoratology, February 2014
Demonstrates how noninvasive ventilation and cough-assist technologies can replace conventional tracheostomy-based management, reducing complications and preserving natural breathing patterns.
Extubation of Patients With Neuromuscular Weakness: A New Management Paradigm
Chest, May 2010
Outlines criteria and methods for extubating patients with severe muscle weakness using noninvasive ventilation and mechanical cough assistance, showing high success rates in previously “unweanable” patients.
Efficacy of Mechanical Insufflation-Exsufflation in Extubating Unweanable Subjects With Restrictive Pulmonary Disorders
Respiratory Care, April 2015
Evaluates the outcomes of MI-E use during extubation in patients with restrictive disorders, demonstrating its effectiveness in avoiding prolonged ventilation.
Decannulation of Patients With Severe Respiratory Muscle Insufficiency: Efficacy of Mechanical Insufflation-Exsufflation
Journal of Rehabilitative Medicine, August 2014
Reports the successful removal of tracheostomy tubes in patients with profound respiratory muscle weakness through systematic use of noninvasive ventilation and MI-E.
Together, these studies form the clinical foundation for the noninvasive ventilation and airway-clearance practices recommended by AMDA and many neuromuscular respiratory programs worldwide.
In The Clinic: Ventilatory Monitoring and Cough Assistance
Regular respiratory monitoring is essential for individuals with Pompe disease and other neuromuscular conditions.
Dr. John R. Bach, a pioneer of noninvasive respiratory management, emphasizes early evaluation and intervention to maintain lung function and prevent respiratory failure.
1. Monitoring Vital Capacity
“One of the most important aspects of evaluation for the neuromuscular patient is measuring the vital capacity,” explains Dr. Bach.
A spirometer measures the total air volume exhaled after a deep breath. Bach recommends measuring vital capacity while lying down, since breathing problems often begin during sleep.
2. Recognizing Hypoventilation
Patients at risk for respiratory insufficiency should track oxygen levels with a pulse oximeter.
“Normal oxygen saturation is 95–98%. If it falls below that, think of two possibilities — mucus plugging or under-ventilation,” Bach notes.
Persistent low readings signal the need for further assessment or noninvasive ventilation to prevent pneumonia or alveolar collapse.
3. Air Stacking and Cough Strength
When vital capacity < 1.5 L, Dr. Bach teaches patients to “stack breaths” using an Ambu bag or ventilator to increase maximum insufflation capacity (MIC).
“The greater the maximum insufflation capacity, the greater the patient’s ability to cough.”
Cough effectiveness is tested with a peak cough flow meter. Flows below 6 L/s usually require assisted coughing.
4. Assisted Cough Techniques
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Manual Assistance (Abdominal Thrust): A caregiver-performed thrust at exhalation improves cough flow.
“It’s a technique we teach early on … and it can be quickly learned by any home caregiver,” says respiratory therapist Carter.
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Mechanical Assistance (MI-E Device): Dr. Bach recommends the Mechanical In-Exsufflator(Respironics/Emerson), which alternates positive and negative pressure to mimic a natural cough.
Dr. J. Clarke McIntosh adds:“The machine gives a few seconds of positive pressure, then switches to negative pressure which basically sucks the secretions out. This could be much better than other maneuvers to assist your cough.”
Summary:
These noninvasive techniques remain the cornerstone of respiratory management in Pompe disease, helping many patients avoid tracheostomy and maintain independent breathing.Adapted from Dr. John R. Bach, MD (UMDNJ/Rutgers), and AMDA Respiratory Support archives.
Options Offered for Respiratory Care
Originally published as a two-part feature in the Muscular Dystrophy Association’s Quest magazine (Vol. 5, Nos. 5 & 6, 1998) and later updated as MDA publication P-160 Breathe Easy: Respiratory Care in Neuromuscular Disorders, this article remains one of the most comprehensive introductions to respiratory management for people with neuromuscular diseases such as Pompe.
Drawing on interviews with experts, including Dr. John Bach, Dr. Greg Carter, and Dr. Robert Warren, it explains how ventilatory-muscle weakness, rather than lung disease, is the central challenge in these conditions and why proper monitoring and noninvasive ventilation are essential.
Key insights include:
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Normal lungs, weak muscles: Most neuromuscular patients have healthy lung tissue. The problem lies in muscle weakness that limits airflow.
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Oxygen caution: Supplemental oxygen can suppress the body’s drive to breathe and allow carbon-dioxide buildup; mechanical ventilation is the safer intervention.
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The importance of coughing: Effective cough strength and airway clearance are critical for preventing infections and respiratory crises.
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Early warning signs: Morning headaches, restless sleep, and fatigue often signal nocturnal underventilation.
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Prevention tips: Maintain hydration, treat scoliosis, manage nutrition and weight, and avoid sedatives or cough suppressants at bedtime.
Together, these principles complement AMDA’s Emergency Medical Information & Alert Card by explaining why oxygen and ventilation must be handled with care in Pompe disease.
Read the full article: Breathe Easy (PDF, MDA P-160) →
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