Back when we first started our Science in the Mall, Y’all podcast to showcase the impressive work ABI member companies are doing, I was very excited to hear from Speragen. If you listened to that episode, you will remember that Speragen’s founder, Alice McConnell is a mother with 2 kids who have genetic condition, Succinic Semialdehyde Dehydrogenase Deficiency (SSADH), that affects a metabolic enzyme and results in these kids having lots of issues that affect their daily lives. Alice subsequently realigned her life to not only care for her special needs kids, but also in starting a company to commercialize a drug to treat this disease. There existed evidence that simply supplementing this enzyme in these kids was adequate to treat the disease. I say ‘simply,’ but nothing in this process is or was simple. The path from the lab to the patient is long, complicated, and arduous. It requires the kind of tenacity and dedication that comes from a mother needing a way to help her children. One of the obstacles is mis-diagnosis because SSADH is not one of the metabolic disorders that are included in standard newborn screening. It is believed that there are many more children with this disorder than are diagnosed due to this. However, in order for a disorder to be included, there needs to be a minimum number of diagnoses. Ugh! I almost want to wait until you’ve gone back and listened to Alice tell her story before telling you the great news of her major milestone accomplishment.
In a press release last month, Alice announced that Speragen has officially partnered with GC Pharma to produce this enzyme to be used for enzyme replacement therapy (ERT) and to develop the newborn screening for SSADH. I get weepy writing this! I’m so happy for Alice and her kids and am proud that ABI was involved in getting to this milestone. I can’t wait to share updates as the development and patient trials progress.