Unlocking the Key to a Rare Disease
One of the most critical functions of the human body is its ability to break down food and turn it into the energy needed to live , work and play . But for some people , particularly children , this routine process is anything but normal , causing a devastating disease that inspired one researcher from the University of Florida ( UF ) to find a treatment .
During a healthy metabolic cycle , carbohydrates are broken down and converted into energy by enzymes known as the pyruvate dehydrogenase complex , or PDC . However , some children are born with a PDC deficiency ( PDCD ), meaning they have genetically mutated enzymes that are less able to turn the food they eat into energy .
While energy is vital for children to live active lives , it is also used for cell formation and growth . Without the necessary energy , cells are unable to function properly and can become damaged . The end result is a host of symptoms , including cognitive delays , poor muscle tone , lethargy and seizures . Adding to that , PDCD leads to the build-up of lactic acid , a potentially hazardous chemical that can make symptoms worse . The disease can be severe and , often times , fatal .
Enter Dr . Peter Stacpoole , a professor of medicine at UF , and his partners at Alachua-based Medosome Biotec in collaboration on a Matching Grants Research Program ( MGRP ) project . Stacpoole learned about PDCD in the 1970s and has dedicated his life ’ s work to it . In conducting his research , Stacpoole discovered that the drug dichloroacetate ( DCA ) has the ability to stimulate residual PDC enzyme activity and potentially treat this rare disease .
“ We ’ ve designed a clinical trial that will test 30 children and study the drug ’ s ability to improve their condition ,” said Stacpoole . “ If this trial shows that DCA is safe and effective , we intend to submit a new drug application to the Food and Drug Administration ( FDA ). If that is accepted , it would be the first FDA-approved drug for PDCD , and it has the potential to treat other diseases , like cancer , where there is an abnormality in the PDC enzyme .”
Another key development in Stacpoole ’ s research was the creation of a genotyping test , a critical factor in determining how much DCA to administer . Due to variations in genes , patients naturally differ in their ability to metabolize DCA . Some are slow metabolizers , while others are fast . The genotyping test has the ability to identify that , allowing for proper dosing and limiting side effects of the drug . Funding from The Corridor ’ s MGRP was essential in developing the test .
“ Matching grants programs are extremely important for the successful completion of projects such as these ,” said Richard Wagner , CEO of Medosome Biotec . “ Having that match allows us a greater chance of success and provides a strong motivating reason for us to stay in Alachua .”
34 florida . HIGH . TECH 2017