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Work in Progress


Disease treatment development and approval can be a very lengthy project. FDA published Accelerated Approval (AA) regulations in 1992 to drive the development of new treatments for serious and life-threatening disorders. AA has been enormously successful at driving innovation in the development of cancer and HIV therapies where substantial funds are available to progress through treatment development life cycle. 

Progress of AGU cure development is marked by the orange marker. Below is the description what was done so far and our planned activities. 

 Treatment/Drug Development

After we investigated innovations and developments in gene therapy in the last 15 years and contacted different experts in the area, we decided to go with the proposal from researchers in the University of North Carolina (UNC) in USA. The researchers have been testing a new type of virus that can deliver a gene throughout the entire brain and spinal cord. This approach has been validated in mice, pigs, and monkeys for another rare disease, which is biologically more complex than AGU.

They use a benign virus called Adeno-Associated Virus (AAV) that does not cause any disease in humans as a “molecular delivery truck” to take normal AGA gene to the deficient cells with the goal to produce the necessary enzyme there. Using standard practices, UNC researchers already constructed and produced AGA Gene/ AAV virus and are testing drug efficiency in human skin cells. For that, UNC has received AGU skin fibroblasts in the lab and completed work of growing/collecting/preserving fibroblasts. Work with fibroblasts is ongoing and the initial results are encouraging.

 Treatment Validation (Pharmacological Activity)
With the previously reported positive results and UNC data, the next step in the drug development process is to prove that the treatment works in animals. Treatment approach and delivery would be the same as in humans, which is to disperse the AGA gene throughout the brain, spinal cord and eventually the whole body while injecting the virus carrier with the gene into the fluid that surrounds the brain and spinal cord. The injection procedure is the same as a spinal tap, does not require surgery, and is routinely done in most hospitals. The encouraging preliminary test results show that this procedure can deliver a gene throughout the entire brain.

AGU mice were born in Jackson labs on February 26 2013. UNC received 20 mice in April 2013 and established AGU mice colony. Mice are being evaluated for a disease progression. To save time for treatment evaluation, the treatment will start with the older mice first.

Acute Toxicity Potential

Once we collect enough data on treatment efficiency in mice and submit it to FDA (pre-IND meeting), the decision on toxicity studies need/duration will be made.