UF researchers hope to find drug for rare child disease

When Brittany Harvey hugged her 6-pound, 10-ounce newborn in 2005, she couldn’t imagine her daughter being anything less than healthy.

“We had no idea in utero that Katie was sick in any way, but when she was first born she flatlined, and we were in the (neonatal intensive care unit) for over a month,” Harvey, 37, said.

At 3 months old, Harvey’s daughter Katie was diagnosed with pyruvate dehydrogenase complex deficiency (PDCD), a congenital disease affecting the mitochondria, the energy powerhouse of the cell. As one of her many medications, Katie took dichloroacetate, also known as DCA. UF researcher Dr. Peter Stacpoole is currently working on a $2 million federally funded project to determine if DCA is a safe and effective drug to give to children with Katie’s disease.

“Katie only received this medicine for the last 2 months of her life but I 100 percent feel that if it was administered her whole life it would have made a huge difference,” Harvey said.

Before Katie died in 2014, she went through 26 surgeries and took too many medications to count, Harvey said.

Children with Katie’s disease generally die young of neurological failure and complications developing cognitively and physically, Stacpoole said. The disease is so rare there are only about 300 children with it living in the U.S.

The Harveys went to hospitals all over the country, seeing several specialists. Katie required 24-hour care, and had a feeding tube and oxygen machine to help her weak lung capacity.

When Katie was 8 years old, she entered a hospice program due to her untreatable lung failure. Ten days after her ninth birthday, Katie passed away peacefully at home with her family.

Stacpoole hopes his trial, which is in phase III, will help other sick children.

“Phase III is the ultimate test,” Stacpoole said. “If you can show your trial is positive, you can apply to the (Food and Drug Administration) for approval of that administration.”

Stacpoole said although the bulk of research done on DCA is for children with metabolic diseases, he is also interested in continuing studies in adults, primarily those with glioblastoma, a type of brain cancer.

“It has a diversity of potential effects,” Stacpoole said.

DCA stimulates an enzyme in the mitochondria, he said. Although it will not cure the disease, it might alleviate the effects of the disorder, he said.

“It may mean a better quality of life, reduction of hospitalizations and complications,” Stacpoole said. “Depending on how quickly we can treat them after they’re diagnosed, we may contribute significantly in their overall health.”