Dr James Lilleker

Researchers pioneer study for rare genetic condition myotonic dystrophy type 1

Researchers in Salford are pioneering a study examining a potential new treatment for people with a rare and currently incurable genetic condition.

They have recruited the first patient in Europe to the study for people with myotonic dystrophy, a genetic disorder that causes progressive muscle weakness and wasting.

It affects around one in 2,300 people – the highest prevalence of any muscular dystrophy and one of the most common rare diseases.

Dr James Lilleker is the Principal Investigator for the study evaluating DYNE-101 for the treatment of myotonic dystrophy type 1 (DM1). He said: “This clinical trial is of significant importance as it may lead to the development of a new treatment for this debilitating condition.

“The DYNE-101 study is a phase 1/2 clinical trial which will provide an opportunity to evaluate the benefits and risks of the new medication in a controlled setting and to determine if it might safely help people with myotonic dystrophy.

Neuromuscular focus

“The Greater Manchester Muscle Disease Unit based at Salford Royal is one of only three sites in the UK selected to take part in this study. Our participation reflects a growing body of neuromuscular research taking place at Northern Care Alliance NHS Trust (NCA) and complements our extensive clinical service for people living with these conditions.”

The patient will receive either the trial drug or a placebo intravenously every four weeks during the 24-week initial period of the three-year study at Barnes Clinical Research Facility at Salford Royal, one of the host sites for the National Institute for Health and Care Research (NIHR) Manchester Clinical Research Facility (CRF), the largest and most comprehensive NIHR CRF in the UK.

Worldwide, the study is expected to enrol approximately 64 patients aged 18-49 with DM1. It’s a four-stage study with a screening period, a multiple-ascending dose placebo-controlled period (24 weeks), followed by a 24-week treatment period and then a 96-week long-term extension.


Vikki O'LoughlinAssistant Director of Nursing for Research and Innovation at NCA, Vikki O’Loughlin, is also NCA’s lead for the NIHR Manchester CRF. She said: “Our partnership with the NIHR Manchester CRF has supported this exciting study focused on an innovative life-transforming treatment for people living with this currently incurable disease.

“While every participant in research is important to us, being able to recruit the first patient in Europe to this study demonstrates that we have the clinical expertise and research systems in place to support cutting-edge studies that could make a huge difference to patients’ lives.”

Dyne Therapeutics has developed the treatment. It is a US-based company focused on advancing innovative life-transforming therapeutics for people living with genetically driven diseases and recently announced new preclinical data demonstrating its FORCE™ platform achieved delivery to the central nervous system (CNS) and robust pharmacological effects in the brain.

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