Non-invasive Imaging of Muscle Structure in Duchenne Muscular Dystrophy Using Multispectral Optoacoustic Tomography
Condition: Duchenne Muscular Dystrophy; Muscular Dystrophies; Muscular Dystrophy, Duchenne
MeSH terms: Muscular Dystrophies; Muscular Dystrophy, Duchenne
Study type: Interventional

Summary: 
      This pilot study aims to assess subcellular muscle structure in patients with Duchenne
      X-linked progressive Duchenne muscular dystrophy (DMD) in comparison to healthy volunteers
      using multispectral optoacoustic tomography (MSOT). During MSOT, a transducer is placed on
      the skin similar to a conventional sonography and instead of sound, energy is supplied to the
      tissue by means of light flashes. This leads to a constant change of minimal expansions and
      contractions (thermoelastic expansion) of individual tissue constituents or molecules. The
      resulting sound waves can then be detected by the same examination unit.
    

Detailed description: 
      Duchenne X-linked progressive Duchenne muscular dystrophy (DMD) is one of the most common
      progressive childhood muscle diseases with an incidence of 1 in 3500 male newborns and is
      associated primarily with decreased life expectancy. From the age of 4-5 years manifest motor
      problems in everyday life, typical signs of proximal muscle weakness, with lab-chemical
      increase of the muscle enzyme (creatinine kinase, CK). Within a few years, relevant muscle
      and tendon shortening leading to joint malpositions and instability, as well as scoliosis and
      loss of walking around the age of 10 are formed. Supportive therapies can not curatively
      affect complications and progression of the disease. Pathogenetically, there is a deficiency
      of dystrophin, a structural protein of the sarcolemma, which is caused by mutations (usually
      deletions) of the dystrophin gene (Xp21.3-p21.2). The result of dystrophin deficiency is a
      necrosis of muscle cells that are replaced by connective tissue and adipose tissue. Clinical
      scores (6-minute walk test, 6MWT) and MRI studies to characterize the degenerative changes of
      skeletal muscle in the early stages are available for the quantitative assessment of the
      disease progression as well as therapy effects, the significance of which is controversially
      discussed. However, the highly sensitive assessment of gene therapy effects (e.g., PTC 124)
      will become increasingly important in the future. Sensitive, non-invasive methods for the
      detection of early muscle degeneration and muscle function in the course are of great
      clinical and scientific importance. The purpose of this first pilot study is to investigate
      whether the differences in skeletal muscle composition of healthy volunteers and ambulatory
      patients with early stage DMD can be quantified and characterized using multispectral
      optoacoustic tomography (MSOT). This could in the future generate a completely new,
      non-invasive method to develop non-invasive biomarkers of disease progression or therapy
      response.
    

Intervention name(s): Multispectral Optoacoustic Tomography
Intervention type(s): Device
Intervention description(s): Non-invasive transcutaneous imaging of subcellular muscle components
Allocation: Non-Randomized
Intervention model: Parallel Assignment
Masking: None (Open Label)
Primary purpose: Diagnostic
Keywords: Optoacoustics; MSOT; Multispectral Optoacoustic Tomography