UCL researchers launch congenital muscular dystrophy research programme

The university has been awarded a £1m grant from LifeArc and Muscular Dystrophy UK

Researchers from University College London (UCL) are aiming to develop potential treatments for congenital muscular dystrophy (CMD) after being awarded a £1m grant from LifeArc and Muscular Dystrophy UK.

CMD encompasses a group of inherited muscle diseases that are usually present at birth or early infancy. Symptoms vary significantly, but can include low muscle tone and floppiness, muscle weakness, delayed motor milestones and tight joints.

The exact prevalence of CMD is unknown and treatment options are currently limited.

The first of the three research projects that UCL will conduct aims to improve how potential treatments for LMNA-related CMD are tested by growing ‘mini muscles’ in a dish that reflect the changes seen in patients with this gene.

The second will aim to enhance the way that potential treatments for collagen VI-related CMD are delivered to where they are needed in the body using a targeting system.

“Success here would break the longstanding therapeutic bottleneck in collagen VI-related CMD and establish a modular delivery platform adaptable to other neuromuscular disorders where muscle fibroblast targeting is critical,” said Professor Haiyan Zhou, UCL.

As part of the third project, researchers will focus on designing a treatment that can mirror a specific DNA change that has shown potential in protecting muscles in patients with merosin-deficient CMD.

Joanna Davidge, Head of Funding at LifeArc, said: “CMD includes a group of devastating conditions, for which there is no cure and limited treatment options. By funding these research projects, in partnership with Muscular Dystrophy UK, we aim to improve the lives of patients living with these conditions.”