Researchers at NYU Langone have made a groundbreaking discovery, utilizing a biochemical process to help an 8-year-old boy with a rare genetic condition regain mobility. The study, published in Nature, demonstrates how a chemical precursor to the enzyme CoQ10 can aid brain cells in overcoming a condition that severely hobbles energy production.
The boy’s condition, HPDL deficiency, is characterized by spastic movements, neurodevelopmental delays, and paralysis. Without treatment, children with this condition typically die at a median age of 18 months. However, after receiving the experimental treatment, which involves administering the enzyme precursor 4-HB, the boy was able to regain mobility.
The researchers used their earlier discovery, which found that 4-HB could cross the blood-brain barrier and reach the brain, to develop this new treatment. By providing the cell with the necessary building blocks, the scientists were able to restore standing and walking function in mice with HPDL gene deficiency.
In a remarkable recovery, the boy was initially unable to stand or walk but went from being an avid soccer player to struggling just to take steps. After receiving the treatment, he has enjoyed long walks, hikes, and even celebrated two birthdays. The study’s findings offer hope for children with this rare condition, and researchers are now working on larger clinical trials to expand its use.
The breakthrough highlights the potential of basic biochemical discoveries to translate into life-changing treatments. The researchers’ dedication to understanding how cells produce energy has led to a promising new treatment that could improve the lives of children with HPDL deficiency.
Source: https://www.statnews.com/2025/07/09/nyu-langone-scientists-use-biochemical-discovery-to-treat-child-with-coq10-hpdl-deficiency