2017 Muscular Dystrophy Association Scientific Conference: A Beacon of Light!

2017 Muscular Dystrophy Association Scientific Conference was a beacon of light!

Researchers from academic medical centers,  pharmaceutical companies, children’s’ medical centers, biotech, engineering,  and veterinary medicine came together to share their basic scientific discoveries, relating to: Muscular Dystrophy, Spinal Muscular Atrophy , OPMG, ALS, FSHD , MMD  and many other muscle wasting conditions.

New imaging techniques, allow vivid real time imaging at a cellular level, and the interplay of chemistry, biology and engineering has led to an acceleration of discovery.  If you are a patient, or a family member of a patient, you will be heartened to know that the passion to make progress was palatable in the conference rooms.

This was not a conference filled with socializing and recreation: every meeting was standing room only and the microphones were busy as researchers asked questions of each other, made suggestions for further research, offered alternative explanations for findings, or queried study parameters.

Even the employees of the Hyatt Crystal City, where the event was held, were touched and motivated to help support the quest for a cure. They held a bake sale during the conference and presented the MDA a check for $650.00.

This conference, focused on fundamental research including many pre-clinical animal model studies.There were lectures on protein  misfolding/turnover, and dystrophin glycocomplex disease, neuron and motor diseases, epigenetics,  gene discovery, precision medicine and clinical trials.

However one new drug for SMA had been tested in infants under six weeks old and was given by injection into the cerebral spinal fluid. The importance of having a natural history of each disease was reinforced in many discussions of clinical trials, as well as the importance of participating in a patient registry. How could one possibly fill a clinical trial with babies under 6 weeks old, without a highly accessible patient population?  And how could one compare these babies to others, with SMA without a natural history ?

Most  of the infants thus treated had head control, the ability to cruise, or stand unaided, and met other functional age appropriate measures, unlike the typical child with SMA.  Mouse studies suggested that there is the potential to begin treatment in utero, with the mice thus treated living more than 16 times longer than others.

BMS, Sarepta, Marathon, Biogen, Cytokinetics, Ionis, Catabasis, Idera,Icagen, Amicus, Santhera ,Avexis, Wave life Sciences, Acceleron all participated or had interesting posters, as well as Ohio State University, University of Massachusetts , Virginia Tech, Wesley Neurology Clinic, University of Florida. Emory University School of Medicine, University of Washington,  NIH, and many others. We will report on a number of these  in future articles.

Of interest, were a few clinical posters  that showed that despite specialized clinics for most muscle wasting diseases, there are still some fundamentals of care that show great inter clinic variability.

For instance, a
poster presented by Elizabeth Dubow MD and Julie A . Parsons, MD from Children’s Hospital Colorado and Colorado School of Medicine revealed that there is no standard treatment consensus or guidelines for something as basic as nutrition for children with spinal muscle atrophy.

Similarly a poster on Duchenne Muscular Dystrophy, studied the influence of weight on the development of cardiac myopathy and concluded “ Maintaining a normal BMI may delay the onset of cardiopulmonary disease in Children with DMD.” This study by Baystate Health AND University of Massachusetts Medical School also showed that “ Underweight  patients showed improved FVC at younger ages; however this advantage is  attenuated by late adolescence.”

Overall the relationship of research in one neuromuscular disease, to help guide research in other such diseases was clear. And basic science , accelerates medications and cures across many diseases, to patients and families who just can’t wait! Many thanks to the MDA!

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