In doing a little digging about autism and myotonic dystrophy, Fragile X is a disease that pops right to the top of the screen. This is also a triplet expansion disease and it has a couple of similarities especially to some of the childhood forms of myotonic dystrophy. Fragile x causes mental retardation (Global developmental delay) as well as many of the kids have Autism or Autism spectrum disorder. Here is a review of Autism and Fragile X
A not well know secondary effect of a drug that Biogen and Isis are jointly developing may reverse some or all the effects of a specific single gene type of autism. This drug will be entering Human Trials in 2014 if all goes well. In August Biogen and Isis announced a collaboration on a drug that looks extremely promising to treat a form of muscular dystrophy, Myotonic Dystrophy. But it may also reverse the symptoms of autism that occurs in some not well known forms of myotonic dystrophy in children. This could be a sleeper drug that may help with this larger and more pervasive societal problem.
Recently Isis Pharmaceuticals gave a talk at the myotonic dystrophy foundation conference in San Fransisco, CA. This talk including just information that had been publicly given out previously. However, one of the lead researchers in the Myotonic Dystrophy field commented that this new drug that Isis is pursuing in collaboration with Biogen could be the “Fountain of Youth Drug”. The basic mechanism of antisense technology, if aging is caused by cell clogging with these proteins that are not being released to proper area. This could be a hug huge blockbuster drug that would exceed everyone potential.
This tremendously complex disease that is myotonic dystrophy may be narrowing for a cure in the next few years. The root cause is known. There are a number of models or ways that the disease can be fixed. One approach that of an antisense nucleotide has been tried on a mouse that had myotonic dystrophy and it worked. (Isis pharmaceuticals). Tomorrow at the meeting below Dr. Richard Moxley one of the foremost researchers into myotonic dystrophy will be speaking about “Curing Myotonic Dystrophy”. It’s a step in the right direction and an indication that there might possibly be a cure coming in the future…
2012 MSG Scientific Annual Meeting
Clinical Trial Design and Biomarkers in Neuromuscular Disease
Beaver Hollow Conference Center, Java Center, NY September 27 – 29, 2012
8:30 PM Keynote Speaker: Richard Moxley (University of Rochester)
Curing Myotonic Dystrophy
Fireside Room
To anyone affected with this disease, Hope is there and perhaps not too far out!
Richard
Congenital Myotonic Dystrophy is what I Describe as the Quadruple Whammy. It hits you hard and just keeps hitting you some more. Sometimes more and sometimes less but it just keeps kicking. Having now dealt with this disease for over 23 years I wonder often why its so so hard sometimes…………Here’s Why
1. Congenital Myotonic Dystrophy. Its present at birth and causes all kinds of issues like respiratory distress, ventilators, premature birth, feeding and swallowing issues, floppiness, etc. And of course it causes developmental delay Okay, so you get hit hard swallow the dreams make up some new ones. maybe its not so bad……… That’s Whammy One
2. In the course of the disease, many of the kids will develop symptoms of juvenile Myotonic Dystrophy such as autism spectrum disorder, ADHD, speech issues, socialization issues. Oh boy, now more adjustments throw dream two away…. Make up a new one that fits better. Handle all the issues everyday…..Whammy Two
3. At or near puberty the kids will begin to develop the symptoms of standard myotonic dystrophy such as Cardiac conduction problems, myotonia, muscle weakness in head and legs and arms. Here stuff really happens, serious medical issues again. Chance of sudden death from cardiac failure. Chance of death from pneumonia. Throw out all the dreams and live day to day. . Whammy three.
4. Of course in the midst of all of this the mother has the disease and it is slowly progressive and others in the family have this as well. Many of the moms become involved with symptoms….. to where they can not adequately take care of their baby/child/adult. Whammy four.
Quadruple Whammy! Now the good news is that Isis Pharmaceuticals (Carlsbad, CA) is working on a drug that will help many of the symptoms of the disease. Only 5-6 years away if all goes well. That will take care of all the whammy’s!!
Richard
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