Compound in common over-the-counter supplement gives little boy, 8, the ability to walk again

Daily Mail​

10-07-2025

A compound in a common over-the-counter supplement has given an eight-year-old the ability to walk again, in what has been called a 'dream come true'.
The eight-year-old, who was not named, used to be the fastest runner in his class and an avid soccer player, regularly enjoying games with friends.
But in August 2023, he started to struggle to walk — and within three months was limping, suffering frequent falls and needing a wheelchair.
His parents rushed him to doctors, where physicians at NYU Langone diagnosed him with a genetic condition called HPDL deficiency.
The disease is rare — with only 90 recorded cases since it was discovered in 2022 — and inhibits the body's ability to make enough of an enzyme called coenzyme Q10 (CoQ10), a compound that plays a vital role in giving cells energy.
Taking CoQ10 supplements, available over-the-counter for around 20 cents per pill, can help, but they aren't enough to fuel cells in the brain because the enzyme is too large to cross the blood-brain barrier.
Without enough of the enzyme in the brain, sufferers struggle to walk or control their muscles and are at risk of suffering from seizures.
So, rather than simply give the little boy a supplement, his doctors said: 'We figured, why not give the cell the building blocks so that the cell can make it itself?'
The 'building block' of CoQ10 is called 4-HB and is thin enough to cross the blood-brain barrier. Doctors were able to put this in a powder, which the boy took dissolved in a solution of water.
His parents, speaking to STAT News on the condition of anonymity, said: 'Our son's condition dramatically changed in a short period.
'He went from being the fastest runner in his class and an avid soccer player to struggling just to walk, often limping and experiencing frequent falls'.
'It was one of the hardest decisions we've ever made [to try the experimental treatment], but doing nothing felt riskier. We saw how quickly our son was declining and knew we had to act.
'After speaking with doctors and doing our research, we got hope and confidence to step into the unknown.'
Within a month of receiving the treatment in November 2023, he was smiling and walking again — completing nearly a mile-long hike across New York City's Central Park.
He now regularly enjoys long hikes and sports and has celebrated two birthdays since.
The case was revealed in the journal Nature, with researchers now saying they hope it can be used to help others.
HPDL deficiency occurs when someone inherits two mutated versions of the human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) gene, which is used to make the CoQ10 enzyme.
In some cases, the condition is very severe and strikes at an early age, causing significant cognitive delays and seizures. In these cases, researchers say patients often do not live beyond 18 months.
But it can also strike at later stages in childhood and adolescence, leading otherwise healthy children to suffer muscle weakness and stiffness in the legs.
Doctors have linked the condition to abnormal activity in the cerebral cortex — the outermost layer of the brain — which is involved in thought and muscle movement.
In this case, the child reportedly suffered no symptoms until he turned eight years old — although doctors said it was likely that there were warning signs.
The little boy was initially started on CoQ10 supplements before doctors suggested to the family that he try 4-HB - which is not approved by the FDA.
His use of the supplements was then discontinued.
Over the first 30 days, he drank the supplement in a 600ml solution, equivalent to nearly three glasses of water, which often led him to throw up afterward.
This was then reduced to a 300ml solution, or just over one glass of water.
The FDA has not approved CoQ10 or 4-HB as a treatment for any specific disease or condition, although CoQ10 is available as an over-the-counter supplement.
The supplement is often recommended to boost energy and fight feelings of fatigue.
Doctors say it can also provide support to people with conditions like congestive heart failure and migraines.
4-HB was initially tested on mice in a 2021 study that had HPDL deficiency, with researchers finding it restored the rodents' ability to walk. Its use in the eight-year-old was the first time it's been used for this condition in humans.
'[CoQ10] is safe. It's 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,' Michael Pacold, an associate professor of radiation oncology at NYU Langone and one of the study authors, told STAT.
The suggestion to use the 4-HB building block in the little boy was consented by the parents, the boy and the FDA — which approved its use as a single patient investigational drug, meaning the doctors could use an unapproved drug or substance for a specific patient to treat a specific condition.
Based on its success, scientists are calling it a breakthrough in medicine.
'We all dream of this as scientists. And every morning I pinch myself … is this really a dream?' said Pacold.
Dr Navdeep Chandel, a medicine expert at Northwestern University who was not involved in the research, added: 'That is basic science is translating into clinical medicine, a dream come true.
'[But] here's somebody who took a very basic biochemical approach, and they found the enzyme, and they found what the enzyme does, and they gave that enzyme to people who had genetic mutations. And it made a difference.'
Now, Pacold and his team are working on a larger study to test the approach on more children.