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Our research in familial ALS (fALS) began with the idea that it might be possible to prevent ALS in people who were at risk for developing this disease. Although we do not know what causes or triggers sporadic ALS, we often know the genetic cause of familial ALS – and, therefore, who is at risk for developing fALS and would benefit from a preventive intervention.
As we studied and learned more about fALS, we came to realize that we were not yet ready to undertake a preventative trial; more preparatory work was needed. To this end, ARC initiated the Pre-familial ALS (Pre-fALS) study in 2007 to: (a) improve our understanding of the pre-symptomatic (i.e. pre-manifest) phase of the disease, (b) identify early disease biomarkers, and (c) identify environmental factors that might affect the age of onset of fALS. Recognizing that a preventive trial cannot help those who are already living with fALS, we have also initiated a clinical trial of Arimoclomol for SOD1-positive individuals who are affected by the disease. The goals of this trial are to examine the safety and efficacy of this novel drug in the SOD1+ population.
In the process of working on these two projects (the Pre-fALS study and the Arimoclomol clinical trial), we’ve also come to recognize the importance of developing biomarkers that might be useful for early diagnosis, for monitoring disease progression, or for evaluating response to treatment. We have therefore begun a series of studies to evaluate potential novel biomarkers , including advanced MRI techniques such as magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) of the spinal cord and the brain, electrical impedance myography (EIM), and cutometry. More information about these and our other ALS studies can be found here.
The scope of our research program has grown tremendously over the last few years, and we’ve been fortunate to recruit an outstanding and dedicated team to work on these diverse projects. We’ve always been guided by the principles of partnerships and collaborations, both with other scientists and clinicians, and with patients with ALS and their family members. It goes without saying that the work we do could not be done without the willingness of patients and their family members to give of themselves to the advancement of our understanding of ALS – and most of all, to finding a prevention and cure. We’ve also been very fortunate to be a part of the NEALS network, a highly collaborative organization dedicated to multi-center ALS research collaboration. Last but not least, we’d like to gratefully acknowledge the support we’ve received for our work from many funding sources including the MDA, ALSA, FDA, University of Miami, and CDC.
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