An 8-year-old boy with a rare genetic disease that affects mitochondria has shown dramatic improvement after receiving an experimental treatment. The child’s condition, caused by a deficiency of the HPDL protein, led to rapid decline over several months, with symptoms including muscle contractions and paralysis.
Genetic testing confirmed the presence of two mutant copies of the HPDL gene, which is responsible for producing the antioxidant coenzyme Q10. CoQ10 plays a critical role in maintaining mitochondrial function, which is essential for energy production in cells.
The experimental treatment involves a molecule that helps bypass the lack of HPDL and produce CoQ10. The child received this treatment in December 2023 and has since shown significant improvement, with increased mobility and strength.
According to Dr. Claire Miller, a pediatric neurologist who specializes in movement disorders at NYU Langone Health, the treatment is a promising development for patients with HPDL deficiencies. While more research is needed to fully understand the mechanism of action, the results are encouraging.
The experimental treatment was developed after successful experiments in lab mice showed that it could restore function and boost survival in animals with similar conditions. The molecule works by bypassing the lack of HPDL and producing CoQ10, which helps maintain mitochondrial function.
While the treatment has shown promise, more research is needed to confirm its safety and efficacy in humans. However, for now, the family of the 8-year-old boy who received the treatment is hopeful that it may improve their child’s quality of life.
The study was conducted by Dr. Michael Pacold and his team at NYU Grossman School of Medicine and the Perlmutter Cancer Center. The results of this trial offer a new hope for patients with HPDL deficiencies, which are rare and can vary in severity depending on the mutations present.
Source: https://www.livescience.com/health/medicine-drugs/8-year-old-with-rare-fatal-disease-shows-dramatic-improvement-on-experimental-treatment