One in 5,000 Americans has mitochondrial disease — a progressive disorder that causes weak muscles, vision and hearing loss, and seizures. Now after years of hopelessness, new research shows that “old” drugs may help.
When she was five months old — doctors diagnosed Giuliana D’Aria with mitochondrial disease.
Gianna Foglia, Giuliana’s mother told Ivanhoe, “Basically they told me that there really was no hope for her.”
They turned to Marni Falk, MD, Director of the Mitochondrial Genetic Disease Clinic at the Children’s Hospital of Philadelphia. For more than 10 years, she’s been studying mitochondrial disease — a genetic disorder where cells stop producing energy.
Dr. Falk explained, “The reason it was hopeless was nobody understood what was happening, why the people were getting sick.”
Now thanks to research on animals, doctors found that existing drugs, like niacin or lithium, might help patients like Giuliana.
Foglia said, “Any of these drugs that help her in any way even in a small way to us is huge!”
Dr. Falk told Ivanhoe, “The children are doing, in general, much better but it’s still a severe disease and we still have a long way to go.”
A long way to go, but any progress is a huge step for Giuliana and her family.
Right now, there are four clinical trials underway in the U.S. on new drugs and several planned to test the value of existing drugs on mitochondrial disease. Dr. Falk says the hope would be to prevent neurologic disease progression and/or improve overall child development and functioning.
