Stories

Pursuing Cures for Mitochondrial Disease

When doctors told them there were no treatments for mitochondrial disease, families banded together to make Seattle Children’s a world leader in mitochondrial research – and help us test a breakthrough drug.

As Seattle Children’s Dr. Charles Cowan tried to find the cause of Alex’s condition, an MRI revealed that she had a form of mitochondrial disease, which is a group of disorders that occur when cells don’t generate enough energy for the body to develop or grow.

“The doctors explained that Alexandra had this progressive disease and wasn’t going to live very long,” remembers her father, Steve Serex. “We didn’t know what to do – we just felt lost.”

A Leader in Studying Mitochondrial Disease

As Serex and his wife, Teresa LeRoss, searched for answers, they joined the Mitochondrial Research Guild, a group of families that has raised more than $2.5 million to help Seattle Children’s become a leader in studying mitochondrial disease.

The guild’s generous gifts have helped Seattle Children’s recruit two world-renowned researchers, Drs. Philip Morgan and Margaret Sedensky. Morgan has developed techniques that increase safety for children with mitochondrial disease undergoing anesthesia. Now he and Sedensky are making discoveries about what causes mitochondria – the parts of cells that generate energy – to malfunction, opening the door to new treatments.

The guild also helps our researchers buy equipment to accelerate their progress; funds fellowships that bring the best and brightest mitochondrial disease investigators to Seattle Children’s Research Institute; and provides seed money for innovative studies.

“The guild’s grants are vital – they help us test promising ideas and generate the data that we need to apply for larger grants from the National Institutes of Health,” says Dr. Russell Saneto, who heads Seattle Children’s Program for Mitochondrial Medicine and Metabolism.

Testing a Breakthrough Drug

To Jillian Herczog, who co-founded the guild in 2003, the crowning achievement has been helping Seattle Children’s become one of just four sites in the U.S. for clinical trials of EPI-743 – the first drug designed to treat mitochondrial disease. The guild donated funds to help Saneto support a research coordinator to get the trials up and running.

“Without the guild’s support, it would have taken a lot longer to get the trials started here, and it might have been impossible,” Saneto says.

To be eligible for the trials, patients must have a form of mitochondrial disease called Leigh syndrome, or be so sick that doctors believe they have less than 90 days to live. When Alexandra met that grim milestone in 2012, her parents enrolled her in in the study – and witnessed a remarkable transformation as EPI-743 increased her cells’ ability to create energy.

“About three months after Alex started taking EPI-743, you could really see her change, especially mentally,” Serex says. “She started saying words for the first time and was more engaged with everything.”

Alex is now 7 years old, has learned to crawl and has developed a vocabulary. She has a strong personality – and a sense of humor.

“She’s spicy and sassy and loves playing jokes on her sisters,” says LeRoss. “It’s such a blessing to have her in our life.”

LeRoss and Serex are now the guild’s vice presidents, and their family is one among many that have participated in the EPI-743 trials’ Seattle arm, helping researchers gather information they can use to apply for FDA approval of the drug.

To Herczog, these efforts underscores how private donors can come together to make a difference.

“Before EPI-743, there were no treatments that could change outcomes, and some families didn’t know if their child would be alive in two years,” she says. “Now they have hope.”