Gene therapy trials

Secondary endpoints met in EMBARK study, and we are funding new research into optimising gene therapy for people with Duchenne muscular dystrophy (DMD)



Funding for gene therapy

DMD gene therapy aims to deliver a working version of the dystrophin gene, so that the body can produce functioning dystrophin, which is absent in people with DMD.

The potential benefits of this include protecting the muscles and preventing the progression of DMD.

In 2014, Duchenne UK, Joining Jack and the Duchenne Research Fund gave £5 million in seed funding into gene therapy research, recognising its potential. Last year, the DMD Hub recruited the first boy to be dosed on a gene therapy trial (EMBARK) in the UK.

Secondary endpoints met

The results of the EMBARK gene therapy Phase 3 trial showed that the drug didn’t achieve a statistically significant difference in the key measure chosen to test its effectiveness, known as the primary endpoint. This endpoint is the NorthStar Ambulatory Assessment, which measures motor function in people with DMD. However, other measures of the trial, known as secondary endpoints, were met.

Our new research into improving gene therapy

While gene therapy brings a lot of hope, there is still a lot more that we need to understand about it, and how it can be optimised as a treatment. We are also funding further research into overcoming the limitations of gene therapy, such as the production of antibodies against it, so that more people can potentially benefit.

Duchenne UK Impact Report 2023

A landmark year of achievement and impact