MD Care Act Reauthorization 2013

MD CARE Act Reauthorization (2013) Your help is needed

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The passage of the original MD CARE Act in 2001 was a “game changer” for the myotonic muscular dystrophy community, and since that time, we have  “moved the needle” in clinical care and therapy development. The MD community worked hard to ensure that the MD CARE Act would become law, and all our efforts paid off. The Rochester Center for excellence was established and has provided great strides in myotonic dystrophy research. But this helps not only myotonic dystrophy.

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New Fatigue Scale available for Clinical Use

There has always been some questions in my mind about the common tests for fatigue and sleepiness with myotonic dystrophy. A new study from the Netherlands confirms this. They have developed a new modified scale that works much better for myotonic dystrophy patients.

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Case Reports of Pregnancy and Myotonic Dystrophy

With the correct diagnosis myotonic dystrophy can be prevented for the next generation. By using pre-implant diagnosis the next generation can be assured not to have myotonic dystrophy. This is an expensive and not practical approach in all countries though.  This blog contains  case reports from Pakistan of two case studies.

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Chronic Pain and Myotonic Dystrophy

A recent article explored Chronic Pain and myotonic dystrophy. (click on link for full study). this is something that many of our patients experience. Heat was being used by 26% of patients. The only treatment that was relatively highly effective and was still being used by a substantial number of patients (26%) was heat. Perhaps this is because heat is an extremely accessible treatment (most people own a hot water bottle or heating pad) that has few, if any, negative side effects.

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Drug Testing for Myotonic Dystrophy Drug Starts this Fall

Isis Pharmaceuticals has announced a strategic partnership with Biogen to begin testing a Drug DMPKRx in Humans this fall. On a webcast that occurred on Sept 9, 2013 Isis CEO announced a strategic partnership in which Isis is receiving upfront payments of $12 Million when the start of toxicology tests begin.

The progress of Isis has been rapid for this drug. Within one year Isis identified  the drug  this is extremely fast. Toxicology testing program will begin this year 2013. Most likely this will be a pre-clinical toxicology tests to insure that the drug is safe in animal models. Biogen and Isis are working closely to identify bio markers and clinical testing which will begin in 2014. Bio-markers are evidence that the drug actual works to the FDA.

This fast progress is similar to what other companies are finding. As the senior researchers have said  that the toxicity of the mutant myotonic dystrophy mRNA is very sensitive to these antisense drugs and other approaches.

This key announcement shows that Isis is making vast strides in this area and that human trials are set for 2014 to begin. To make sure that you are considered for the Trials:

1. Make sure that you are on the Myotonic Dystrophy Foundation Registry
2. make sure that you are on the Rochester Registry
3. make sure that you are registered with MDA in USA.

We are making amazing progress! Hope is here!

Richard

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