Respiratory parameters on diagnostic sleep studies predict survival in patients with amyotrophic lateral sclerosis

OBJECTIVE: In amyotrophic lateral sclerosis (ALS), respiratory muscle involvement and sleep-disordered breathing relate to worse prognosis. The present study investigated whether respiratory outcomes on first-ever sleep studies predict survival in patients with ALS, specifically taking into account subsequent initiation of non-invasive ventilation (NIV). METHODS: From patients with ALS, baseline sleep study records, transcutaneous capnometry, early morning blood gas analysis, survival data and clinical disease characteristics were retrospectively analyzed. Patients were stratified according to whether enduring NIV was consecutively established (“NIV(+)”) or not (“NIV(–)”). RESULTS: Among the study cohort (n = 158, 72 female, 51 with bulbar onset ALS, 105 deceased) sleep-disordered breathing was present at baseline evaluation in 97 patients. Early morning base excess (EMBE) > 2 mmol/l predicted nocturnal hypercapnia. Ninety-five patients were NIV(+) and 63 were NIV(–). Survival from baseline sleep studies was significantly reduced in NIV(–) but not in NIV(+) patients with nocturnal CO(2) tension ≥ 50 mmHg, apnea hypopnea index ≥ 5/h, and EMBE > 2 mmol/l. Hazard ratio for EMBE > 2 mmol/l was increased in NIV(–) patients only, and EMBE independently predicted survival in both NIV(–) and NIV(+) patients. Furthermore, EMBE on baseline sleep studies was the only predictor for survival from symptom onset, and hazard ratio for shorter survival was markedly higher in the NIV(–) than the NIV(+) group (2.85, p = 0.005, vs. 1.71, p = 0.042). Interpretation: In patients with ALS, EMBE > 2 mmol/l predicts nocturnal hypercapnia and shorter survival. Negative effects of sleep-disordered breathing on survival are statistically abolished by sustained NIV. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00415-021-10563-0.