Due to gene mutation, children with Duchenne muscular dystrophy (DMD) fail to produce an essential protein, causing progressive muscle degeneration and damage. No curative treatment is available at the moment. Most patients will end up in a wheelchair, and pass away between 20 and 40 because of heart or respiratory failure. HKCH is now part of a multinational phase III clinical trial to study the efficacy and safety of using gene therapy to treat DMD.

Dr Sophelia Chan, Clinical Assistant Professor of the University of Hong Kong (HKU) and Honorary Associate Consultant in the HKCH Neurology team is the principal investigator leading this gene therapy trial at HKCH, which is the first in Hong Kong. Through one-time intravenous infusion, a viral vector is used to deliver an engineered gene to the patients' muscle cells, instructing them to produce a shortened and functional version of the needed protein, which could potentially control and even alter the disease progression.

▲The clinical trial is conducted at over 40 centres in nine regions across the globe. There are high standards for manpower, facilities, patient selection, dose preparation, injection arrangement, follow up assessment and data collection. The teams at HKCH have mapped out the workflow carefully and underwent related training.