We’re so excited to share a big win for our community. 

This is happening because of our selfless donors that walk alongside of us every single day.  In thanks to our support, SLC6A1 Connect is funding a clinical trial to repurpose an FDA approved drug named Ravicti made by Horizon Therapeutics for SLC6A1. 

The trial will begin in a couple of weeks at Weill Cornell Medicine in New York City. The interim chief of Child Neurology and director of the Pediatric Epilepsy Program at Weill Cornell Medicine, Dr. Zachary Grinspan, in conjunction with Maxwell’s doctor, Dr. Scott Demarest at Children’s Hospital Colorado are the lead primary investigators.  Children will be dosed in New York City and Denver.  We are looking for improvements in all aspects of the disease.

Our clinical trial was inspired by a revolutionary study by Dr. Jacqueline Burre, Assistant Professor of Neuroscience, and her colleagues at Weill Cornell Medicine. In that study, she found that Ravicti made by Horizon Therapeutics could help stabilize a similar rare neurological disease. Dr. Jingqiong Kang at Vanderbilt University then showed that Ravicti can lead to similar benefits for those with SLC6A1. The ultimate goal is still to develop gene therapy and we are on our way.  This is not a permanent fix, but if it works as we anticipate, it will buy children with SLC6A1 needed time.

The clinical trial came together in record speed – just 4 months from idea to development. 

There are about 170,000 currently used words in the English languages.  That’s not nearly enough to show our gratitude to our donors that made this possible.

Please click here to see read the formal announcement or here to read about our progress in 5280 Magazine.

SLC6A1 Gene

I am a mother of a beautiful boy with an SLC6A1 mutation and I am dedicated to finding the best treatment possible for my son.


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