Ambulatory model of non-invasive ventilation therapy in Motor Neurone Disease patients with sleep disordered breathing: an open label pilot study

Motor neurone disease (MND) is an incurable, rapidly progressive neurodegenerative disease with poor prognosis. Respiratory failure is the leading cause of death, typically occurring within three years of the diagnosis. Current guidelines recommend noninvasive ventilation (NIV) initiation for patients with respiratory insufficiency, usually at later stages of the disease. In Australia, NIV initiation typically requires an in-hospital admission and/or diagnostic polysomnogram (PSG) followed by PSG-directed titration. However, NIV initiation in the real world practice is often varied and current guidelines make no mention of the location of NIV initiation in MND.

In this prospective, open label study conducted at the Macquarie University Motor Neurone Disease Services, the feasibility of commencing an ambulatory NIV set up model in symptomatic MND patients with sleep disordered breathing was explored. This model incorporated the use of a ventilator device that had an automated pressure support ventilation mode with telehealth monitoring capabilities. NIV was commenced in an outpatient setting and home maintenance of therapy occurred under the supervision of the study doctor. The initial NIV set-up took 90 minutes and included the mask fitting, education regarding the use of ventilator device and the acclimatisation period. The duration of the study lasted six months following the NIV initiation. All of the participants attended scheduled clinical reviews at the first, third and sixth month, in addition to the continual telehealth surveillance of their NIV use. The cumulative outcomes measured over six months included NIV adherence, ventilation setting changes, sleep quality and quality of life. The health care cost analysis was performed by comparing the expenses of in-hospital NIV initiation to ambulatory care set-up. Ventilatory chemo-reflex responsiveness was also assessed at baseline and after six months of therapy.

Nine participants with a confirmed diagnosis of MND according El Escorial criteria were recruited and all participants completed the study. The presenting phenotypes were limb onset (n=7), bulbar onset (n=1) and cervical onset (n=1). Participants had a median (IQR): age of 58 (54-69) years, BMI of 29 (24-30) kg/m2, Revised Amyotrophic Lateral Sclerosis Rating Scale (ALSFRS-R) score of 37 (33-41), nocturnal oximetry Oxygen Desaturation Index (ODI) of 10 (6-15) events per hour and FVC of 67 (43-96) % of predicted values. Ventilation setting adjustments occurred most frequently in the first month following NIV set-up. The study outcomes of quick uptake of NIV on day 3 following NIV set-up, high NIV adherence rate, improved sleep quality and preserved quality of life and the potential for health care cost savings attributed to the success in implementing the ambulatory NIV set-up model. Assessment of ventilatory chemo-reflex responsiveness did not show any alterations in the central or peripheral chemo-sensitivity and the effects of NIV therapy on the chemo-reflex responsiveness were not clear.

In conclusion, the study has demonstrated that ambulatory NIV set-up is feasible, achieves effective nocturnal ventilatory support and provides improvements in sleep quality. This model allowed participants to receive therapy at home. Telehealth monitoring assisted in the implementation and maintenance of NIV therapy and integrates well into an ambulatory care model. NIV intervention at early stages of MND maintained quality of life for what is otherwise a devastating and incurable illness.