Novel Therapeutic Target for Fragile X Syndrome and Neurodevelopmental Disorders

Application

Salvianolic acid C for treating Fragile X Syndrome (FXS).

Key Benefits

New therapeutic drug candidate for the treatment of FXS.
Preliminary data in the laboratory in organoids treated with the drug showed rescued cell phenotypes known to be associated with the disease in humans.
Potential to treat other neurodevelopmental disorders.

Market Summary

Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder caused by a mutation in the FMR1 gene and is the leading inherited cause of intellectual disability. The condition presents a broad range of symptoms, including intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, anxiety, and behavioral problems. Unfortunately, there is no cure for FXS, and current treatments focus on managing the disorder's symptoms and preventing co-morbidities. Hence, new medications are needed to improve the quality of life of those with FXS and their families.

Technical Summary

Emory researchers are developing a novel small molecule inhibitor called YTHDF1 (salvianolic acid C (SAC)) to treat FXS. Through several in vitro experiments, the inventors tested SAC in models of FXS. Treatment with SAC was found to be effective in rescuing developmentally altered phenotypes in FXS forebrain organoids, including the decreased proliferation of neural progenitor cells, hastened cell cycle exit, and altered neural differentiation. In addition, SAC did exhibit toxicity in control forebrain organoids when treated with YTHDF1.