Study identifies erythropoietin as a potential active ingredient in Primrose syndrome
Medical Xpress
February 26, 2026
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A groundbreaking study reveals that erythropoietin, a growth factor already approved as a drug, shows promise in treating cognitive and social issues associated with Primrose syndrome. This rare and severe neurological disorder is caused by mutations in the ZBTB20 gene, leading to significant challenges in brain function. Conducted by researchers from Mannheim, Göttingen, Varna, and Princeton, the study utilized mice models to demonstrate that recombinant human erythropoietin (rhEPO) significantly improved symptoms linked to the disease.
Primrose syndrome is a rare genetic disorder characterized by severe neurological symptoms, including intellectual disability and social communication difficulties. The research team focused on rhEPO, a drug already used in clinical settings for conditions like anemia, to assess its potential benefits for this rare condition. By administering rhEPO to mice with engineered ZBTB20 mutations, the study observed notable improvements in cognitive function and social behavior. These findings were published in *JCI Insight*, offering hope for individuals affected by this devastating disease.
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Originally published on Medical Xpress on 2/26/2026