Duchenne muscular dystrophy (DMD) is an inherited lethal muscle wasting disorder that affects mostly boys. While great strides have been made in medical management of this condition, nothing prevents the progressive decline in muscle function and the associated loss of independence and eventual mortality. This projects aims to examine individual drugs and combinations of drugs that have already been approved for human use in other conditions.
Tests will involve measurements of changes in muscle physiology associated with treatment in the mdx mouse model of DMD followed by a detailed assessment of changes in muscle pathology. A number of novel drugs are in pre-clinical and clinical development for DMD but all face a number of hurdles, and significant delays, in order to be approved by the regulatory authorities. They are also likely to be associated with very high treatment costs. In contrast, if already approved drugs are effective in the mouse model then these drugs can be rapidly tested in a human clinical trial. If the trial showed benefit, then clinicians could prescribe relatively inexpensive drugs “off-label” with confidence and without the need for the use in DMD to be formally approved.
This rapid pathway would enable patients to receive a treatment that might slow the course of the disease and buy time while more specific novel drugs are developed. The protocol for analysis of drug effects in the mdx mouse was developed with funding by the Concept Development Partnership Fund at the RVC.