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Developing blood tests for improved diagnosis of muscular dystrophy and measuring the progression of neuromuscular conditions

Dr Stephanie Duguez and her research team aim to develop a blood test that can detect molecules called sphingolipids, the amounts of which are different between people with a muscle-wasting condition and those who do not have a muscle-wasting condition. The hope is that these blood tests can be used to improve the diagnosis of people with neuromuscular conditions like spinal muscular atrophy (SMA), FSHD, inclusion body myositis (IBM) and myasthenia gravis, and measure the progression of their condition.
Principal Investigator
Dr Stephanie Duguez
University of Ulster
Official title
Sphingolipid content of secreted vesicles as a non-invasive biomarker panel for neuromuscular diseases
12 months
Total cost

Project background

Accurate and reliable biomarkers are needed to diagnose and monitor the progression of some muscle-wasting conditions. These biomarkers should ideally be easy to measure and be as non-invasive as possible ‒ without the need for patients to have muscle biopsies.

Cells release small bubble-like particles called secretory vesicles that can enter the bloodstream. These contain fatty molecules called sphingolipids. The amounts of sphingolipids in these vesicles differ between people with or without muscle-wasting conditions. Dr Duguez and her team found 15 sphingolipid molecules that can help to identify two muscle-wasting conditions. Early results also suggest that the same sphingolipids can be used for identification of other neuromuscular conditions.

The project aim

Since the vesicles get released into the blood, Dr Duguez and colleagues will develop a blood test that will facilitate the diagnosis and measure the progression of several neuromuscular conditions ‒SMA, FSHD, IBM, and myasthenia gravis. These blood tests will also be used to assess the effectiveness of nusinersen, a clinical trial drug for SMA.

Why this research is important

People with muscle-wasting conditions are often misdiagnosed at first, or their symptoms are dismissed as signs of ageing. Having a simple blood test that can identify a muscle-wasting condition can be life-changing, as timing is often crucial for receiving potential treatments and being able to manage your condition. This test is also simple enough that it could be used to effectively measure the progress of a condition and monitor how well a clinical trial drug works in patients.

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