July 09, 2025
A promising experimental therapy has shown life-changing results for a child with mitochondrial encephalopathy, a rare and often fatal neurodegenerative disease caused by HPDL gene mutations. After rapidly losing mobility, the patient regained the ability to walk, and even run, following treatment with a compound designed to restore CoQ10 levels in the brain.
This innovative approach was developed by Michael E. Pacold, MD, PhD, NYU Langone Health, 2023 Harrington Scholar-Innovator and 2024 Oxford-Harrington Rare Disease Centre Scholar.
The therapy, which has also shown strong preclinical results, is now moving toward further development with support from the Oxford-Harrington Rare Disease Centre.
Read the full story from NYU Langone Health
Immunology, Inflammation, Oncology
New York University
Harrington Scholar-Innovator