In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins

► Adequate autonomic control of breathing is chronically missed in CCHS. ► PHOX2B polyAla expansions are responsible for intracellular pathogenetic aggregates in CCHS. ► No treatment is known to reduce cell aggregates and/or to ameliorate patients' respiration. ► The ability of candidate drugs to rescue the correct cellular phenotype has been tested. ► 17-AAG and curcumin had the most beneficial effects on cell response to expanded PHOX2B.