Ventilation Helps Eight With Pompe’s Disease

German researchers reported in the April 26 issue of Neurology that noninvasive ventilation (NIV) was decidedly helpful in acid maltase deficiency (AMD, or Pompe’s disease) in the eight patients they studied.

Uwe Mellies at the University of Essen studied seven adults and one teenager with biochemically proven Pompe’s disease that began in childhood or adulthood (but not in infancy), all of whom showed severe deterioration of respiration and low oxygen levels during sleep. All had weakness of the respiratory diaphragm, although all but one were able to walk.

All participants began using air (not oxygen) under pressure via NIV delivered by face mask, and all reported that they used the NIV device regularly during nighttime sleep and sometimes during the day.

The investigators assessed participants’ symptoms and lab values at the start of the study, three months later, and then every six months for up to five years.

They found that NIV use corrected nighttime blood oxygen to normal or nearly normal levels, improved daytime blood levels of oxygen and carbon dioxide, and, in four people, reversed cardiac changes that had occurred in response to respiratory dysfunction.

Of the seven participants who completed symptom questionnaires, all reported that NIV reduced nighttime sleep disturbances, reduced daytime sleepiness and fatigue, and decreased shortness of breath.

When the study ended, all participants were living at home; four were employed, and one was a university student.

“Although patients demonstrated further disease progressoin during an observation period up to five years,” the investigators write, “NIV normalized gas exchange in all patients and resolved echocardiographic [heart ultrasound] and clinical findings of right heart failure in four affected patients.”