Differential Response to non-invasive ventilation in myotonic dystrophy

Patients with myotonic dystrophy (DM1) frequently develop sleep-disordered breathing (SDB) with or without alveolar hypoventilation, which may lead to fatigue, excessive daytime sleepiness, and impaired sleep quality, negatively influencing daily and cognitive functioning, and quality of life. Furthermore, SDB is associated with cardiac conduction disorders, and can lead to cardiac arrhythmias. The benefit of non-invasive ventilation (NIV) for patients with DM1 varies to a great extent, from a burdensome experience to a beneficial treatment. This also leads to difficulty motivating patients for NIV, and this seems a bigger problem in DM1 compared to other patient groups. Therefore, identification of patients with DM1 that do (or do not) respond well to NIV will become necessary to improve its cost-effectiveness and reduce the burden for patients and their loved ones. This requires consensus about the key performance measures of NIV. The study is a longitudinal observational study to profile a multidimensional response to NIV in patients with DM1. We will profile a multidimensional response to NIV in patients with DM1, enabling us to identify patients with DM1 that do (or do not) respond well to NIV.

In this prospective research, DM1 patients with SDB will be included when their treating physician at the local centre of home mechanical ventilation decides that there is an indication to start with NIV treatment. To determine the indication for NIV, physicians use the 'Veldnorm chronische beademing', a document which has been developed by and for physicians of the centres of home mechanical ventilation in the Netherlands. Data will be collected regarding: lung function test, blood gas, polysomnography or overnight measurement of O2 and CO2. Follow-up will take place up to 6 months after start with the NIV treatment. Follow-up data will be collected systematically and registered in an eCRF. We aim to include our patients within a timeframe of 2.5 years.

DM1 patients that start with NIV will respond differently in terms of gas exchange, exercise capacity, daily functioning. fatigue, sleep quality, excessive daytime sleepiness and quality of life. This research will enable us to identify the different factors that influence the response to NIV.

T0: baseline measurements
T1: start non-invasive ventilation
T2: follow-up after 2 weeks
T3: follow-up after 6 weeks
T4: follow-up after 6 months (and end of study)