Non-Invasive Ventilation In Myotonic Dystrophy Type 1: Road To Compliance Predictive Models

Respiratory failure is among the main causes of death in Myotonic Dystrophy Type 1 (DM1), yet disease awareness and adherence are low. The aim of our study was to evaluate NIV adherence and to investigate clinical parameters which could be early predictors of adherence. Adult patients with DM1 underwent a full battery of respiratory tests at baseline and over time. Adherence to NIV was defined as use of ventilator for at least 4 hours per night at least 5 days a week. Out of 151 patients, 67 (44%) received NIV indication between 2009 and 2019. At follow up (median follow-up 58.15 months [35.43–79.76]), 18 patients (27%) were NIV compliant, 24 (36%) non-compliant, 13 (19%) never started ventilating and 12 (18%) went missing. The majority of patients (80%) who were NIV adherent complained of fatigue and exertional dyspnea when NIV was prescribed. The majority (72%) of respiratory asymptomatic patients stopped using NIV. Compliant patients also had a significantly lower FVC (70%[56%–75%] vs 80% [66%–92%] p=0.0445) and higher ODI (20.00 [11.50–25.50 vs 10.40 [4.90–15.20]; p=0.0136) at oximetry at the time of NIV indication. 4 of the 5 patients (80%) with remitting fatigue and exertional dyspnea during follow-up became NIV compliant, while 6 of 8 (75%) who developed fatigue were non-compliant. This preliminary analysis suggests that symptom burden and degree of respiratory involvement are associated with best adherence. Analysis of data about progression of respiratory involvement are ongoing to define a compliance predictive model to identify patients early in the disease course in whom the chances of adherence are higher thus allowing to better target respiratory management and allocate resources.