Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York

Advancements in magnetic resonance imaging‐based biomarkers for muscular dystrophy

“…The past decade has seen a significant rise in the number of interventional trials in muscular dystrophy . In developing and completing these trials, many investigators have come to recognize the advantages to having more sensitive and objective biomarkers to monitor treatment effects …”

Magnetic resonance imaging in facioscapulohumeral muscular dystrophy

“…Our improved understanding of FSHD genetics has led to the identification of multiple therapeutic targets for novel genetic technologies, including gene silencing and gene editing . Because there is no curative treatment for this debilitating illness, there is great eagerness in the research and patient community to develop these potential therapies and accelerate their progression into human clinical trials …”

Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy

“…Multivoxel MRS with water suppression was performed in each slice (scan parameters: TR/TE 1,800/135 ms; matrix size 16 × 16; slice thickness 1 cm; FOV 16 × 16 cm; total data acquisition time approximately 7:17 minutes). Nominal voxel size was 1.0 cm . The echo signal was digitized with 512 data points and a spectral width of 2,000 H Z .…”

“…Great progress has been made in elucidating the genetic and epigenetic mechanisms of disease in FSHD in recent years . However, the ability to translate basic scientific discoveries into treatment is limited by the absence of quantitative biomarkers of muscle disease . Recent studies have suggested that magnetic resonance spectroscopy (MRS) can differentiate between diseased and healthy muscle in FSHD .…”