NEWS

In early 2020, Drs. Rotenberg and Lee from Boston Children’s Hospital were given a one year $100,000 grant to create an additional SSADH Deficient mouse model.  The goal of this project was to allow researchers to turn on and off the gene mutation that causes SSADH at different stages of life. 

The doctors are reporting that they feel confident that they will have a working mouse colony by the end of this project.  The next step will be to use the mice colony to determine three critical restoration parameters needed to pursue Enzyme Replacement / Gene Therapy in SSADH patients:

1. Efficient safe rate
2. Critical age
3. Cell target; brain, liver or both

This initial work on the animal model is imperative to secure additional funding from the National Institutes of Health to understand how Enzyme Replacement / Gene Therapy could be a viable option for SSADH patients. 

This paper outlines their current progress.
Novel genetic tools to model functional enzyme restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD).

Henry Hing Cheong Lee, Phillip L. Pearl and Alexander Rotenberg. Novel genetic tools to model functional enzyme restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD). bioRxiv 2020.09.30.321398; doi:ttp://doi.org/10.1101/2020.09.30.321398