Investigators: Daniel G Miller MD PhD, Rabi Tawil MD
Category: Research - Clinical
This study was co-written by Dr. Miller and Dr. Rabi Tawil at the University of Rochester. Our understanding of FSHD has progressed considerably in the last 5 years and now we can begin to develop strategies for treatment. In order to prepare for clinical trials we need to identify sensitive predictors of disease progression so we can tell whether the treatment is working. Measuring disease progression in FSHD is complicated because reduction in muscle strength occurs over long periods of time and people with FSHD tell us that they sometimes go years without noticing any significant change in the strength of their muscles. Equally common is the report that muscle strength dropped precipitously in a short period of time. Clearly it would be difficult to quickly assess treatment efficacy or lack thereof using subject reports or clinical measurement of changes in muscle strength. Here we propose to measure the level of multiple serum proteins to determine if the levels of any correlate with disease severity and can be used as sensitive biomarkers that reflect disease progression or regression in the absence of overt clinical signs.
See resulting paper published in Neuralmuscular Disorders.
See Progress Report
See Article on MDA Conference Presentation.