Revolutionary Gene Therapy Enables 8-Year-Old to Walk Again
NYU doctors successfully apply an experimental CoQ10 precursor to treat a rare genetic disease.
An 8-year-old boy, diagnosed with a rare and potentially fatal genetic condition, has regained his ability to walk, thanks to an experimental treatment at NYU Langone Health. This breakthrough, which has been published in Nature, marks the first successful human application of a novel therapy for HPDL deficiency.
In August 2023, the child was actively participating in sports. However, by November, his condition had deteriorated to the point where he needed a wheelchair. The cause was HPDL deficiency, a condition that inhibits the body’s production of coenzyme Q10 (CoQ10), a crucial element for cellular energy production. Traditional CoQ10 supplements proved ineffective as they were unable to cross the blood-brain barrier.
Dr. Michael Pacold and his team of researchers utilized 4-hydroxybenzoate (4-HB), a CoQ10 precursor that can penetrate the brain. Pacold explained, “Conventional CoQ10 is reasonably effective at treating symptoms outside of the brain, but almost completely ineffective at treating symptoms within the brain, because it doesn’t get through the blood-brain barrier.“
Within two months of initiating treatment in December 2023, the boy began walking long distances and even running. By July 2024, he was hiking and go-karting. The treatment demonstrated over 90% success in mouse models, with no serious side effects reported.
This groundbreaking discovery occurred serendipitously while researching cancer treatments, showcasing how basic science can translate into life-saving therapies.