You've just added:

July 09, 2025

Breakthrough Treatment Helps Child Walk Again After Rare Brain Disease Diagnosis

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

About the Scholar

Michael Pacold

Immunology, Inflammation, Oncology

Michael Pacold, MD, PhD

New York University
Harrington Scholar-Innovator

More about Michael Pacold

We have updated our Online Services Terms of Use and Privacy Policy. See our Cookies Notice for information concerning our use of cookies and similar technologies. By using this website or clicking “I ACCEPT”, you consent to our Online Services Terms of Use.