Child with rare disease gets back on his feet with experimental treatment

Genetic testing revealed that the boy had two mutant copies of the gene called HPDL. This gene is essential for the production of coenzyme Q10, a protein that plays a critical role in cell energy production. While this deficiency is rare, two of his siblings had died in infancy from the same condition. His family feared the same fate due to the incurable disease.

With special approval from the U.S. Food and Drug Administration, pediatric neurologist Dr. Claire Miller and her team at NYU Langone Health began an experimental treatment that had not previously been tested in humans. The researchers believe this treatment could help bypass HPDL deficiency by prompting the body to produce CoQ10.

A month after starting treatment, the boy was able to walk more than half a mile in Central Park with his family. Today, he can participate in a 4-mile jog and pedal a go-kart independently. "Even small improvements are so significant," his family said. "It's comforting to know that the treatment is making a difference."

The child has not experienced any serious side effects from this daily oral medication. Doctors aim to test this treatment in other patients with similar HPDL deficiency and then apply it to other disease groups related to CoQ10. His family stated, "Trying an experimental treatment gave our child a better chance at life. We are grateful to have taken this opportunity."

This clinical trial was launched following mouse experiments conducted in the laboratory of Dr. Michael Pacold of NYU Grossman School of Medicine and Perlmutter Cancer Center. Pacold and his team had determined that the HPDL protein initiates the first step in CoQ10 production in mitochondria and that its deficiency causes serious health problems. The treatment, tested in mice, reduced fatal neurological symptoms and increased survival rates.

Following these promising results, the same molecule was used in the child. The compound used in the treatment is administered orally, dissolved in water, and the child says he enjoys taking the medication for colds more. His family noted that after the treatment, he "can perform almost all his daily tasks independently, except for sports."

The researchers emphasize that more research is needed to understand exactly how this treatment works. "Research doesn't always work the way we hope," Dr. Miller said. "But this is a truly heartwarming story. A child who developed severe symptoms very quickly is now doing much better."