An 8 -year -old boy, sportsman and energy a few months ago, could no longer walk last fall. His legs no longer replied, he was constantly falling, unable to follow his comrades at school. Her parents remember: “The state of health of our son has radically changed in a short time. He was once the fastest runner in his class and a passionate football player. He now has trouble walking, often lodging and doing frequent falls“, They told Stat News.
The verdict of doctors falls: their child suffers from an extremely rare genetic disorder, linked to a transfer of the gene Hpdl. This disease prevents its organism from producing a key molecule for cellular energy: the Coenzyme Q10. In a few weeks, he went from the sports field to a wheelchair. No treatment then existed to stabilize his illness. Until this unexpected medical breakthrough.
A biochemical discovery to revive the production of COQ10
In addition to rare diseases, it is established that COQ10 cellular levels decrease with the appearance of cardiac pathologies, diabetes and Alzheimer’s disease, as well as naturally with aging. For these reasons, the COQ10 food supplements sector should reach a billion dollar turnover in the next ten years. However, researchers from the current study point out that in spite of high doses, less than 5 % of the COQ10 consumed is effectively absorbed by the body, due to its structure and its size. This could explain why the COQ10 failed to alleviate the neurological symptoms linked to HPDL/COQ10 disabilities, according to scientists.
Faced with the emergency, a team of scientists from Nyu Langone, led by Dr. Michael Pacold, tried a radical approach: instead of administering COQ10 directly, too large to enter the brain effectively, they used smaller precursorscapable of crossing the blood-brain barrier.
In genetically modified mice to present the same disability, these compounds – in particular the 4-HB (4-hydroxybenzoic acid)-have allowed Restore brain production of COQ10. The mice, which would normally die in the first weeks of life, survived adulthood. The combined addition of 4-HB and a second precursor, 4-HMA, has even produced a spectacular improvement in motor functions.
Building on these results, the Nyu team has decided to offer compassionate treatment administration in children. The choice was not easy for the family. “”It was one of the most difficult decisions we have ever made, but doing nothing seemed even more risky“Said the parents.
An unexpected return of walking in children
The little boy received an oral solution of 4-HB several times a day. The first weeks were difficult: nausea, vomiting, fatigue … But in less than a month, a change has occurred. He got up. He walked. He even traveled an entire kilometer in Central Park with his relatives.
“”To our knowledge, this is the first time that neurological symptoms linked to a primary COQ10 impairment have been stabilized, even improved, not by administering the coenzyme itself, but by providing its simpler and better assimilated precursors “underlined Dr. Pacold, assistant professor in the department of radio-oncology of the Faculty of Medicine Grossman of the University of New York and at the Cancer Center Perlmutter.
Since the start of treatment, the child has regained strength in his legs, his muscle tone has improved, and his falls have decreased. It continues today to receive treatment under narrow medical supervision.
“”The advances in research show their real impact when they change the life of a family “said Dr. Kimmelman, director of the Cancer Center Perlmutter and Nyu Langone Health. “”Thanks to an extraordinary team working within our integrated system, we were able to transport this treatment safely and efficiently from the laboratory to the patient who needed it “.
A world first to be confirmed
If this evolution is exceptional, the researchers remain cautious. For the moment it is only a unique case. “”The next step is to administer this treatment to other patients with the same disease to find out if the results observed in this child are reproducible “said Dr. Pacold.
The next research will aim to better understand the mechanism of action of these precursors, their long -term efficiency, and to identify the most favorable therapeutic windows. One thing is certain: this advance offers a glimmer of hope for families affected by genetic diseases without solution … even if scientific prudence remains essential.