In a stunning development The Berglund lab in Gainsville, FL has identified a potential treatment of myotonic dystrophy of a Chemotherapy drug Actinomycin D. In Both Cells and mice that were created to have myotonic dystrophy the drug used at or below levels that are used in human chemotherapy pushed back the Foci that are associated with the disease.
In theory this might be a treatment for myotonic dystrophy. This has not been tried in humans and would be highly risky but for people near end of life this may be a vector for them and their doctors to consider.
Researchers have previously identified what they think is the cause of the disease.In Myotonic Dystrophy the repeat expansion mutation is made into RNA but it does not get out into the cytoplasm. It remains trapped in the nucleus where it sticks to various proteins and appears as spots or foci that can be observed down the microscope. Because these proteins are stuck to the repeat RNA they cannot perform their normal functions correctly within the cell.
Researchers have found that to make progress with this disease, they need to “unstick” the proteins. This drug appears to do this in mice and cells.
Previously to the publication of this article there was no even theoretical treatment available. There are several drugs in development but this takes years of development. For those near end of life with this disease there is now a potential treatment. A copy of the article is here. This is something you may want to discuss with your medical team. Its untried and potentially risky with side effects. More information will be available shortly.
Myotonic Dystrophy Treatment
Please note the study is very technical. We are not recommending this to anyone but bringing all the current information to your attention
ISIS Pharmecuticals announces testing of new Drug to Treat Myotonic Dystrophy.
If you have this disease call you local research center and ask to be added to list of potential patients if you want to participate.
Isis Pharmaceuticals Initiates Phase 1/2 Study of ISIS-DMPK Rx in Patients With Myotonic Dystrophy Type 1
ISIS-DMPK Rx Extends the Targeting of Antisense Drugs to Include Muscle Tissue
CARLSBAD, Calif., Dec. 16, 2014 /PRNewswire/ – Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) announced today that it has initiated a study for ISIS-DMPKRx in patients with Myotonic Dystrophy Type 1 (DM1). DM1 is a rare genetic neuromuscular disease caused by the production of toxic dystrophia myotonica-protein kinase (DMPK) RNA in cells. ISIS-DMPKRx is specifically designed to reduce toxic DMPK RNA.
Recruiting for the Myotonic Dystrophy Drug study is beginning. You must contact the individual centers to insure that you may have a chance to be included in the study. The study has only a very limited number of individuals that can be included. If you have joined one of the registries for myotonic dystrophy….this is not sufficient or enough. Call or email the centers as soon as you can and ask to be included in the drug trial if you meet the criteria.
This week ISIS pharmaceuticals announced the commencement of recruiting for Phase I of the Myotonic Dystrophy Drug Trial. This is tremendous news for the myotonic dystrophy community. The promise of scientific research to define the DNA site, identify the cause of the disease, then begin to develop treatments that would reverse the problems in the cell are culminating to the promise of hope for all that suffer from this horrible affliction.
If you want to participate in this study you must act quickly and contact the centers that are conducting the research. Find the closest location and contact the person via email or phone. You must meet all (meaning all) the qualifications for the trial. The full information is on CLINICALTRIALS
Happy Days! A clinical Trial is going to start on Phase one of Myotonic Dystrophy Drug. That means that a small number of patients in the US usually under 50 will get a chance to try the drug. The purpose of the Phase I trial is to
Try out the drug
Find an optimum dose
Assess Safety of Drug
More on what a phases of clinical testing mean (From MD Anderson site)
What are Phase 1 Clinical Trials?