Category Archives: Uncategorized

Myotonic Dystrophy and the Bladder

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Bladder and urinary issues in Myotonic Dystrophy are not reported as well as they should be. Many patients report incontinence problems but this is not listed on many of the myotonic dystrophy sites as an issue. During hospitalization incontinent issues may be of greater visualization as hospitals now have bladder scanners to look at this issue. This article based on a small sample size shows there is a variety of urinary bladder issues of various nature. More work is needed to see how this issues can be overcome. 

The issues with incontinence are many as shown in the attached study. Retention issues arise as the hospitals use 400ML of urine before they want to catheterize.

See attached file for more information.

 

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– Gathering for Myotonic Dystrophy Researchers

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Today Sept 5th marks the opening of the IDMC-11 conference. This is the 11th time that the scientific community comes together to discuss the advances in the myotonic dystrophy field. The scientists share information about advances in the all stages of the disease from the molecular basis to drug development. Watch here for updates and summaries from the conference. Today is registration and the keynote address. The conference this year is in San Francisco, CA USA.

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New Dental Case Study shows benefits of Dental Care for Young adult

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Dental issues loom large in myotonic dystrophy. Structural issues with teeth and gums. Lack of physical strength to properly clean teeth are a number of the issues that come up. Here is a recent case study of a young adult with DM1 that shows with extensive work a good outcome can occur. Here is the abstract:

Surgical Orthodontic Treatment of a Patient Affected by Type 1 Myotonic Dystrophy (Steinert Syndrome).

Abstract

Myotonic dystrophy, or Steinert’s disease, is the most common form of muscular dystrophy that occurs in adults. This multisystemic form involves the skeletal muscles but affects also the eye, the endocrine system, the central nervous system, and the cardiac system. The weakness of the facial muscles causes a characteristic facial appearance frequently associated with malocclusions. Young people with myotonic dystrophy, who also have severe malocclusions, have bad oral functions such as chewing, breathing, and phonation. We present a case report of a 15-year-old boy with anterior open bite, upper and lower dental crowding, bilateral crossbite, and constriction of the upper jaw with a high and narrow palate. The patient’s need was to improve his quality of life. Because of the severity of skeletal malocclusion, it was necessary to schedule a combined orthodontic and surgical therapy in order to achieve the highest aesthetic and functional result. Although therapy caused an improvement in patient’s quality of life, the clinical management of the case was hard. The article shows a balance between costs and benefits of a therapy that challenges the nature of the main problem of the patient, and it is useful to identify the most appropriate course of treatment for similar cases.

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Long Distance Marathoning with Myotonic Dystrophy Type 2

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A Recent  case study just published examined a person with a mild case of myotonic Dystrophy type 2 PROMM. This individual was a long distance marathon runner. The disease did not interference with the sport that the individual chose. Additionally, the doctors proposed that the heavy excercise may have helped to retard the progression of the disease.

“In conclusion, this case shows that PROMM may take a
mild course over at least 22 years, that PROMM with mild
myotonia may allow a patient to continue strenuous sport
activity, and that continuous physical activity may contribute
to the mild course of PROMM. The genotype/phenotype
correlation between the CCTG-expansion and the mild phenotype
is weak.

FULL STUDY can be seen at this link

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Potential Myotonic Dystrophy Drug Fails! – Ionis Myotonic Dystrophy Drug fails to reach minimal therapeutic value

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In a instant news email the Myotonic Dystrophy Foundation (MDF) released information that the Ionis Pharmaceutical Drug DMPK-2.5Rx research project has been canceled. The drug DMPK-2.5Rx did not work, and did not get the correct amount of therapeutic drugs into the cells of the patients with myotonic dystrophy. The company may still continue research on a more potent combination but the current trial is halted.

This is hard to hear news for the myotonic community. This is the second drug in development to fail. This new drug is part of a number of new generation of interest drugs  in trying to find a drug to treat the disease. There are still a number of drugs in development but the Ionis one was the most advanced. Perhaps the information in this trial will be of help to the other drugs in development.  For those in the late stages of the disease the length of time to find a treatment that is FDA approved in unlikely now.

There continues to be some “off label” treatments including erythromycin and some NSAIDS as well as Actinomycin-D but none have had any proven human effect.

More information below.

Ionis Pharmaceuticals Reports on
DMPKRx Phase 1/2 Clinical Trial

Ionis Pharmaceuticals recently concluded a Phase 1/2 clinical trial to evaluate IONIS-DMPK-2.5Rx in myotonic dystrophy patients. IONIS-DMPK-2.5Rx was designed to target the toxic DMPK RNA in muscle that is responsible for myotonia or muscle dysfunction in DM1 patients. The clinical trial used dose escalation to assess safety and explore biomarkers for target engagement in muscle biopsies.

Ionis reports that small but encouraging trends in biomarker and splicing changes were observed during the trial, and that this study provided a much better understanding of how future clinical trials and improved clinical endpoints may be used. However, drug levels measured in biopsy tissue from trial participants indicated that the amount of target engagement would not achieve the desired therapeutic benefit to treat this disease.

Without the desired drug levels in muscle, Ionis has decided not to advance IONIS-DMPK-2.5Rx. It will instead pursue the discovery of a more potent drug to target DMPK using new muscle-targeting LICA chemistry made at Ionis.

The company sincerely thanks everyone in the DM community that participated in the study – patients, caregivers and physicians, noting, “we are committed to the DM patient community and we hope to advance a new, more potent drug into development that will benefit people living with DM1.”

Ionis invites DM community members to submit questions regarding the above announcement via this email address. MDF will collect questions through January 12th and then work with Ionis to get answers out to the community as soon as possible.
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