New study suggests gout drug, colchcine, may help treat Myotonic Dystrophy DM1 in future

A new study by several major researchers in the myotonic dystrophy field had a very interesting study that identified a FDA approved drug that may help with myotonic dystrophy.  However, as usual, more research is needed to validate the approach. The study identified and validated a cell based assay screening tool that enabled the researchers to look at a number of drugs. The most promising drugs were colchicine, thiocolchcine,suprafenacine, amsacrine, azathioprine, The researchers decided to concentrate on was Colchicine an already approved FDA drug for gout and familial Mediterranean fever (FMF), 

We primarily focused on colchicine because it is an inexpensive, FDA-approved, natural therapeutic that is generally well tolerated and is currently used in the clinic to treat gout and familial mediterranean fever (FMF)“‘

The next step the researchers took was to use colchicine in mice that had been altered to have myotonic dystrophy. The drug was injected into these mice. The researchers found that the amount of mutant RNA was decreased in  the muscle cells.

“Collectively, these data demonstrate that microtuble inhibition in vivo leads to a selective reduction in expanded CUG RNA levels without broadly affecting the transcriptome”

Next the researchers tested colchicine in patient cells with myotonic dystrophy. They selected patients cells with a repeat count of 1900-3000 repeats. The results were positive

“we observed significant rescue of missplicing”


The researchers established a cell line that enabled them to screen a large number of compounds that might help to reduce DM1 in theory. They found a list of candidates and then selected colchicine as a drug to model

“We then validated the use of a microtubule inhibitor in the HSA DM1 mouse model and in DM1 patient cells with colchicine an FDA approve natural microtubule inhibitor currently used in the clinic. Our results provide proof of principle for the identification of compounds and cellular targets selectively modulater r(CUG)exp levels in DM1 using cell-based screening.

Our Observation of a partial rescue in DM1 relevant missplicing in multiple models warrants further evaluation of colchicine. The study is NOT sufficient to address the therapeutic efficacy of colchicine or of general microtuble inhibition in the treatment of DM1, It is important to determine if there is a positive trade off between the therapeutic efficacy in reducing DM1 symptoms in  relation to known toxicity from microtuble inhibition. As an example, and although very rare, myopathy has been reported in some individuals with compromised renal function who had been treated chronically with colchicine for gout. Future Long term treatment in DM1 animal models such as HSA at clinical doses to evaluate the reversal of DM1 phenotypes are a [prerequisite to determine if any clinical studies are warranted”

Overall this is a promising approach that needs more study. However, for those in the end stages of Myotonic dytrophy disease this may be something to discuss with your medical staff.




NOTE:  Transcriptome definition – Wikipedia

The transcriptome can be seen as a subset of the proteome, that is, the entire set of proteins expressed by a genome.. However, the analysis of relative mRNA expression levels can be complicated by the fact that relatively small changes in mRNA expression can produce large changes in the total amount of the corresponding protein present in the cell.




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New Drug Approach Validated

This info is from 2018 but still very valid for today….. From Med Express

Researchers complete myotonic dystrophy treatment research

Translational Genomics group. Credit: Asociación RUVID

Researchers at the Translational Genomics laboratory of Valencia University and the INCLIVA health research institute have just discovered a new approach for the treatment of myotonic dystrophy, a rare and incurable neuromuscular disease which does not have specific treatment. Their work has been published in Nature Communications.

Their research has discovered molecules that are able to increase the expression of MBNL proteins, which are crucial for the , and that way prevent many of the alterations present in the murine and cellular models of the disease.

The uncovered molecules are known as antagomiRs. An antagomiR is a small oligonucleotide which has been noticeably modified to improve its pharmaceutical characteristics. It is added to specific regulatory RNA, in this case miR-23b and miR-218, which naturally suppress the expression of MBNL proteins. By degrading the suppressors, they increase endogenous expression, which is a therapeutic target for the disease. Oligonucleotides are a new type of innovative medicines which, according to Beatriz Llamusi, co-author of the project, “are quickly reaching clinical practice and could provide medium-term solutions for numerous diseases which are intractable today.”

Myotonic dystrophy originates due to expansions of the CTG triplet of the DMPK gene which, through a well documented process, abduct MBNL proteins and prevent them from carrying out their normal functions within the cell. Estefanía Cerro Herreros, first signer of the article, graphically describes this process: “It is as if we gathered all our teachers in a park instead of in a classroom: we would paralyse education.” She adds that “the treatment we have discovered consists of increasing the endogenous expression of said genes. As if, following the previous example, we hired more teachers.”

A crucial aspect of the research is the team’s interest on collaborating with the pharmaceutical industry to transform these discoveries into real medicine. Rubén Artero, head of the research, believes it is necessary to create an environment around research centres “which favours the continuity of scientific discoveries until they develop into solutions that are requested by society.” In this sense, the Translational Genomics group of Valencia University has previous experience with public-private collaborations focused on these developments and, in this specific case, is negotiating the creation of a spin-off company to progress in the development of these composites as potential therapies for . The research team recently organised the first Spanish convention on the use of oligonucleotides in human therapies (SMOT1) with broad participation of companies in the sector.

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Exercise May help Strengthen Muscles in Myotonic Dystrophy

A new study ( But only of two people) shows that it is possible to increase muscle strength in Myotonic Dsytrophy. This study seemed to show that the exercise program needs to be adopted to the individual so that they maintain the exercise program. The Muscle strength increase seems to be linked to how diligent the person followed the training regime. From the Study:

Our results suggest that muscular adaptations linked to muscle growth can occur in DM1 as demonstrated by the CSA increase of type I and type II myofibers. Training might also influence the distribution of myofibers, in favour of type II. The myogenic and inflammatory markers evaluated do not seem to be modulated by the training stimulus in our participants. Compliance to the program seems to be an important factor to consider. Patient’s preferences regarding training regimen should be considered in the perspective of personalized training/precision medicine. It should be noted that beyond the positive impact of training on muscle adaptations, it could also bring positive changes in other organ systems. Further studies comprising a higher number of participants and controls are needed to validate our findings and determine to which extent and how skeletal muscles of DM1 patients adapt to strength training.


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Cognitive Decline Over Time

A new study just published shows more information on cognitive decline over Time in DM1. This study shows different results than many other studies. Isolating the issues to just a few areas. It seems a very comprehensive study with multiple patients and controls which strengthens the results. Also a number of cognitive tests were included.


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MDA awards $1 Million for Myotonic Dystrophy research

MDA Awards Nearly $1 Million to Continue Funding Myotonic Dystrophy Clinical Research Network

Investment will support five medical centers that specialize in DM research and clinical care

CHICAGO, January 24, 2017 – The Muscular Dystrophy Association announces the award of a clinical research network grant totaling $918,000 over three years to spur advances in myotonic dystrophy (DM) research.

Established in 2013, and supported by funding from MDA and other patient advocacy groups, the National Institutes of Health (NIH) and pharmaceutical company Biogen, the Network’s goals are to gain a more detailed understanding of the DM disease process and to collect data needed for clinical trials in order to inform what outcome measures, biomarkers and endpoints will be most appropriate.

“MDA is pleased to continue to enable this critical infrastructure for myotonic dystrophy research,” said MDA Scientific Program Officer Lianna Orlando, Ph.D. “Current and upcoming clinical trials in DM would not have been possible without MDA’s role in establishing the Network and supporting the creation of the tools necessary to carry out successful and informative studies.”

The Network currently is comprised of six medical centers with significant expertise in DM research and clinical care. Centers include:

  • California: Stanford University School of Medicine, Stanford
  • Florida: University of Florida College of Medicine, Gainesville
  • Kansas: University of Kansas Medical Center, Kansas City
  • New York: University of Rochester Medical Center, Rochester
  • Ohio: Ohio State University Medical Center, Columbus
  • Washington, D.C.: National Institutes of Health

MDA funds helped establish the Network’s original five university sites, and the new grant award continues to fund these programs. MDA funds do not support the NIH center. Additional sites may be added in 2017.

The Network is led by Charles Thornton, professor of neurology at the University of Rochester, who serves as its overall director.

“Now, for the first time, scientists and drug developers are coming up with good ideas about how to attack myotonic dystrophy at its root cause,” Thornton said. “The hope is that one of these new treatments will have a powerful effect, or that several can be used together.”

The Network was started, Thornton noted, to pave the way for testing new treatments in people.

“Experience has taught us that finding out whether a new drug is working or not is not a slam dunk. If we want to have clear answers, then we must work out many details and methods in advance,” Thornton continued. “And, we have to work closely with patients and families every step of the way. If it’s not a team effort, we probably won’t succeed.

“We are extremely grateful for support from MDA in getting the Network launched and keeping it going. When we started we hoped that we could encourage more companies and scientists to work on developing treatment for myotonic dystrophy, because they would see that all the tools are in place to conduct good clinical trials. Our work is still at an early stage but already we can see that this is happening.”

All of the researchers in the network have free and unrestricted access to data generated at all of the sites. In addition, and to further support advances in DM research, the Network is committed to making access to study results broadly available to both academic and industry researchers in the United States and around the world.

Among the Network’s accomplishments:

  • Network researchers have already been responsible for much critical clinical research in DM in the U.S., and through combined efforts they have standardized equipment and procedures (for measuring myotonic and muscle strength, and for obtaining blood and biopsy samples) across all sites.
  • The Network investigators published a DM biomarker study in December 2013 that looked at RNA splicing in muscle biopsy tissue and identified a group of gene splicing events that are affected even before there is evidence of muscle weakness. This collection of early changes in DM1 represent a tremendous opportunity for early/pre-symptomatic therapy intervention, and is being used as a potential biomarker to determine whether a treatment was effective at targeting the root cause of the disease process.
  • The five original Network centers are currently completing a multicenter observational study of type 1 DM in 100 individuals with the disease, while a companion study, conducted by the NIH site, is following 25 additional participants. The goals of both trials are to prospectively assess walking speed, muscle strength, muscle size, myotonia, heart rhythm, mental efficiency (attention, memory and cognitive tests), and overall health over a one-year period to determine how the condition changes over time.

MDA has funded more than $46 million in myotonic dystrophy research since 1950, and including this most recent award, is currently is funding nine active DM grants with a total funding commitment of more than $3 million.

The new grant was approved by MDA’s Board of Directors after careful deliberations and analysis by MDA advisors and research staff. This year, MDA is funding 150 different research projects in 11 countries.

About the Muscular Dystrophy Association
MDA is leading the fight to free individuals — and the families who love them — from the harm of muscular dystrophy, ALS and related muscle-debilitating diseases that take away physical strength, independence and life. We use our collective strength to help kids and adults live longer and grow stronger by finding research breakthroughs across diseases; caring for individuals from day one; and empowering families with services and support in hometowns across America. Learn how you can fund cures, find care and champion the cause at

Roxan Triolo Olivas
MDA Vice President Public Relations and Community Programs
(520) 529-5305

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