Case study report of experimental use of approved FDA drugs to reverse myotonic dystrophy symtoms (DM1)

Encinitas, CA Two recent published studies reviewed the use of FDA approved drugs in Mice that reversed some myotonic dystrophy symptoms.  The mice showed improvement in muscle strength after a regime of using these approved rugs in appropriate dosages.

My son Chris has Congential Myotonic Dystrophy with a repeat count of about 1700. He is severely affected being non-verbal, cognitive delays, autistic spectrum disorder, and some muscle involvement. Chris also has the adult form of the disease as he reached puberty and has a level 1 heartblock, excessive sleepiness and other adult symptoms.

He has had 3 bouts of respiratory collapse. This initially involved a Hospital Stay, MSRA pneumonia. Within a very short period of time of initial symptoms he was in the ICU on a respirator and full dosages of heavy antibiotics including vancomycin. Recovery was uncertain and very slow. Tracheotomy was performed as weaning from the respiratory was difficult and dangerous. Full recovery was accomplished at 120 days. USA Hospital costs was approximately $750,000 for this. Two other bouts of respiratory collapse related to pneumonia occurred with similar outcomes.

We decided to pursue an experimental course of treatment with these FDA approved drugs due to concerns that he might not survive another bout of respiratory collapse.

In April 2016  we initiated a course of treatment on Erythromycin after consultation with pneumologist, cardiologist, cardiology expert in DM, and primary care Physician. The Primary care physician wrote the script for erythromycin. The cardiology team was involved as there is a contraindication for erythromycin with cardiac arrhythmia’s. The course was 2X daily 125mg of Erythromycin orally.

In May 2016 we added a daily dose of 80 Mg of Ketoprophen as this drug was found to have a positive effect on mice as well in ameliorating the myotonic dystrophy symptoms.

Results: We did not use any formal metrics in evaluating the results of the trials. The main reporting point was discussions with caregivers to see if there was any improvement in cognitive or strength related improvement in the patient. These conversations were all convergent in :

Overall Muscle strength               NOT IMPROVED
Overall Cognitive Abilities             NOT IMPROVED
Chest Congestion                        DECREASED SOUNDS

# of Pneumonia Infections           IMPROVED

Overall the results of this 8 month trial did not replicated the information in the two mice studies. There was no increased muscle strength noted by caregivers. There did seem to be a significant improvement in clearing secretions in the lungs which is a critical factor in this patients Quality of Life (QOL). No Pneumonia infections were reported. this is a significant improvement over the last 12 months.

Discussion: Overall it appears that this therapy may have had an positive  impact on the patient. Overall the results of this one case did not replicate the studies that used mice in terms of improvements in muscle strength. this may be due to a number of reasons including dosing strength. It could also be that the mice that are created to have myotonic dystrophy are not the ideal method to test drugs the the DM in these mice may be more susceptible to disruption that the actual DM gene in human patients.

Patients with Congenital Myotonic Dystrophy and certain other patients (older than 57) are currently excluded from clinical new drug trials. Myotonic Dystrophy is slowly progressive until an exponential event occurs. Because of the risk of sudden death and pneumonia with these cases is ongoing looking for alternatives to reduce risk of death may be warranted by patients health care team.


Study of Childhood and Congenital Myotonic Dystrophy

Here is a recent study of issues with congenital and childhood myotonic dystrophy. It seems pretty comprehensive and has a lot of good information. The summary is below followed by the link to the full study. The study does not also provide information on the link to autism or autism spectrum disorders that many of the children have. The study does not go into depth on the adult form of the disease that follows as the children age and go through puberty. But a good basic review.

“In neonates and children, DM1 predominantly affects muscle strength, cognition, respiratory, central nervous and gastrointestinal systems. Sleep disorders are often under recognized yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and children with DM1 may experience severe physical and intellectual disability, which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counseling is critical in this autosomal dominant genetic disease with variable penetrance and potential maternal anticipation,as is assisting with family planning and undertakingcascade testing to instigate health surveillance in affected family members.”

BELOW click on hyperlink for full study in PDF form.

Childhood Myotonic dystrophy 2015

Myotonic Dysrophy Drugs Lead Candidates for Fast Track Autism Spectrum Disorder Testing

NIH officials announced yesterday that a new contract has been let with UCLA to form a network of researchers at various academic institutions to identify promising new and older drug compounds to treat Autism Spectrum Disorder (ASD)  and to see if they merit additional investments.

The program is part of a new initiative called  “Fast Fail” intends to vastly speed up the drug development process and reduce the costs of this drug development. Instead of taking years of work to see if a drug works this Fast Fail process could see results within weeks. As ASD is a huge issue for the USa and other countries this fast testing with myotonic dystrophy drugs could lead to treatments in a much faster time frame.

Dr. James McCraken who is leading the effort at UCLA states “The Whole idea is just getting much better in these early phases at identifying drugs that are going to be efficacious and safe and thereby speeding the development of effective new therapies and reducing the overall cost”

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SRT-149 Myotonic Dystrophy & Autism Drug Candidate

Good news today! Another company has launched a potential drug for myotonic dystrophy and by extension this may also treat the childhood forms of myotonic dystrophy. The childhood forms of myotonic dystrophy are highly associated with autism spectrum disorder, so it is hopeful that this new drug will have some effects on this as well as the cognitive effects in the adult forms of the disease. For the general autism population reversing the effect in the childhood forms of myotonic dystrophy. May help narrow the mechanism of action and suggest certain treatments in the future. The childhood form of myotonic dystrophy is one of the few single gene causes of autism. Because the drug will work through an RNA mechanism, it is  unlikely this drug will have a direct effect on the general autism population.

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Dr. Eckstrom Doctoral Thesis on Childhood Myotonic Dystrophy

Here is a copy of Dr. Eckstrom Thesis on Childhood Myotonic Dystrophy. Its pretty comprehensive and a bit technical. Click below to open a PDF Copy. The thesis is almost 90 pages long and full of a lot of good information. Dr. Eckstrom is one of the leaders in the knowledge of childhood myotonic dystrophy and Autism

EckStrom Doctoral Thesis Childhood Myotonic Dystrophy



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