Recombinant human erythropoietin (rhEPO) dramatically improved autism spectrum disorder symptoms and cognitive deficits in mice modeling Primrose syndrome, a rare genetic condition caused by ZBTB20 gene haploinsufficiency. After three weeks of alternate-day injections, treated mice showed restored social behavior, normalized vocalizations, reduced repetitive behaviors, and improved cognitive flexibility compared to untreated controls.
This breakthrough offers hope for Primrose syndrome patients, who currently have no targeted treatments for their severe intellectual disability and autism-like symptoms. The therapeutic mechanism likely involves EPO's ability to enhance ZBTB20 expression in hippocampal neurons, compensating for the genetic deficiency. While promising, the findings require validation in human trials before clinical application. The work also illuminates EPO's broader neuroprotective potential beyond its traditional role in red blood cell production. For families affected by this devastating syndrome, these results represent the first evidence that the neurological manifestations might be reversible rather than permanently fixed developmental defects. The research methodology provides a robust framework for testing similar interventions in other transcription factor-deficiency syndromes.