\u201cThat is basic science translating into clinical medicine, a dream come true,\u201d Navdeep Chandel, a professor of medicine at Northwestern University, told STAT. He was not involved in the study.<\/p>\n
This study revolves around science\u2019s understanding of how cells produce energy \u2014 a task performed by the so-called powerhouse of the cell, the mitochondria. To make energy, the mitochondria needs coenzyme Q10 (CoQ10). A rare genetic deficiency could interfere with body\u2019s ability to make the enzyme, causing HPDL deficiency \u2014 a fatal condition characterized by spastic movements, neurodevelopmental delays, and even paralysis.<\/p>\n
HPDL deficiency can be hereditary \u2014 when a child inherits two copies of the mutated HPDL gene, one from each parent. This progressive childhood-onset movement disorder has multiple variants that can result in different ages of onset, clinical presentations, and survival. Children with the most severe clinical presentations of this disease die at a median age of 18 months<\/a>. In the case of the boy that NYU Langone neurologists treated, he did not have the onset of symptoms until later into his childhood, despite having inherited the mutated HPDL gene.\u00a0<\/p>\n \t\t\t \t\t\t\t For years, physicians have been trying to treat such conditions in which mitochondrial function is reduced by supplementing the body<\/a> with CoQ10 enzyme. Found on most pharmacy shelves, CoQ10 is a wellness supplement that can help with heart health, energy, and brain health<\/a>, though the Food and Drug Administration has not approved CoQ10 for treating any medical condition.\u00a0<\/p>\n \u201cIt\u2019s safe. It\u2019s reasonably effective at treating symptoms outside of the brain, but almost completely ineffective at treating symptoms within the brain, because it doesn\u2019t get through the blood-brain barrier,\u201d said Michael Pacold, an associate professor of radiation oncology at NYU Langone and one of the study authors.<\/p>\n Think of the blood-brain barrier as the brain\u2019s plastic wrap \u2014 keeping harmful chemicals out. But it\u2019s almost too good because many drugs cannot penetrate it. That\u2019s where Pacold\u2019s lab\u2019s earlier discovery helped. In a 2021 study<\/a>, it discovered one of the first steps to how the cell makes CoQ10. This involves the HPDL gene and its role in making 4-HB \u2014 an essential building block cells need to make CoQ10.\u00a0<\/p>\n Pacold and his team found that 4-HB, the precursor to CoQ10, could not only cross the blood-brain barrier and reach the brain, but it was able to restore standing and walking function in mice that had HPDL gene deficiency.<\/p>\n \u201cInstead of giving CoQ10, we figured, why not give the cell the building blocks, so that the cell can make it itself?\u201d Pacold told STAT.<\/p>\n The boy, who received the treatment, had normal development until August 2023, when he started displaying uncontrollable spastic movements in both of his ankles while playing soccer.\u00a0<\/p>\n \u201cOur son\u2019s condition changed dramatically 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,\u201d the boy\u2019s parents said in an emailed response to questions from STAT. The family did not want the boy\u2019s or their name used.\u00a0<\/p>\n By November 2023, he could not stand on his own and needed a wheelchair. The family, who had lost two other children to the same genetic condition, contacted a physician who specializes in HPDL deficiency, and was connected with doctors and researchers at NYU.\u00a0\u00a0<\/p>\n Claire Miller, a pediatric neurologist at NYU Langone, and a team of neurologists met with Pacold to explore the possibility of administering the experimental treatment to the boy.\u00a0Miller, also an author on the study, said the research data from Pacold\u2019s team was \u201cvery convincing.\u201d Researchers then got formal approval from the FDA on compassionate use grounds.\u00a0<\/p>\n \t\t\t![\"\"](\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/07\/AP25121535030812-768x432.jpg\")
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\n\t\t\t\tNew study challenges understanding of how age, chronic diseases and inflammation are linked<\/a><\/p>\n![\"\"](\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/07\/AP24169566780787-768x432.jpg\")
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