Current Research

Current Research

The Duchene research landscape has changed significantly over the past few years; we see a growing pipeline of drugs that are currently being investigated with some that are entering the late stages of the clinical trial process. At the moment, pilule Shiv would need a cocktail of drugs to treat his condition.

Overview of current research and trials

Exon skipping; late stage clinical trials

Exon skipping involves injecting a molecular patch into the blood stream or under the skin; this patches up the missing part of the gene so that an altered state of dystrophin is produced to stabalise the condition. The earlier this can be made available to a child following diagnosis, ed the sooner the condition can be stabilized.

Dystrophin is a very long protein, not all Duchene boys have the same missing part (mutation), meaning that exon skipping needs to be tailored by type of mutation.

This drug has been shown to be effective in human trails with symptoms dramatically reduced.

Please click Exon Skipping

Utrophin upregulation , part way through trails

Utrophin is a very similar protein to dystrophin, we all have very low levels of Utrophin, however these levels are not enough to provide the same function as dystrophin. Administered orally, this treatment aims to increase the level of Utrophin in DMD boys so that it can substitute the missing dystrophin.

This is intended to work for 100% of duchenne boys.

The drug has been found safe in human trails and effective in mice.

Please click Utrophin Upregulation

Gene therapy and genome therapy; Early stages

These approaches have the potential to fix the mutation by delivering a functional copy of the dystrophin gene to muscle cells where it could restore production of the dystrophin protein.

Please click Gene Therapy

Drug therapy

These drugs treat the symptoms of the condition and do not fix the cause, they work temporarily to slow down the progression of the condition. The use of steroids, for example, act as an anti-inflammatory to suppress the formation of scar tissue.

Please click Drug Therapy


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