Tag Archives: treatment

SRT-149 Myotonic Dystrophy & Autism Drug Candidate

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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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Prosensa recieves 5 million Euros for Myotonic Dystrophy Research

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The USA is not the only location where drug development for myotonic Dystrophy is taking place. Here is a one year old report (October 2011) on the research in the Netherlands for Myotonic Dystrophy treatment. Prosena also receive an Emerging Star award this year for the most innovative biotech company in Europe. They also announced a 23 million euro financing round in January. Prosensa has about 4-5 potential drugs for Duchene Muscular Dystrophy in development and we are very happy that they are looking at Myotonic Dystrophy as a therapy as well.

 

Prosensa Awarded up to €5m Innovation Credit from Dutch Government for research in Myotonic Dystrophy

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October 25, 2011

For immediate release

Leiden, The Netherlands, October 25, 2011 – Prosensa, the Dutch company focusing on RNA modulating therapeutics for rare diseases with unmet medical needs, announced today that it has received an innovation credit of up to €5m from AgentschapNL, a subsidiary of the Dutch Ministry of Economic Affairs, Agriculture and Innovation, to support further development of a series of preclinical compounds for the treatment of Myotonic Dystrophy type 1 (DM1).

According to the terms of the agreement, Prosensa will receive €940,000 to support the initial stage of the project, with the potential to receive additional funding of up to €5m after successful completion of specific milestones and an initial review in 2012.

The genetic mutation underlying DM1 is characterized by expansion of so-called triplet repeats in the DMPK gene leading to transcripts with toxic effects. Prosensa applies its RNA modulation platform to reduce the number of these expanded repeat, toxic transcripts. One compound, PRO135, reversed the transcript toxic effects after in vivo intramuscular administration in preclinical DM1 models. Prosensa works in close collaboration with the department of Cell Biology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, on this project, one of the leading centres in DM1 research in the world.

Judith van Deutekom, Vice President of Discovery at Prosensa commented: “We are very pleased with this grant by the Dutch government, which allows us to accelerate our research in this important therapeutic area and helps us grow into a specialist rare disease company. The innovation credit from the Dutch government is intended to stimulate development of technologically innovative products. In addition to Duchenne muscular dystrophy, we are also working on a potential therapy for patients affected by Myotonic Dystrophy, yet another rare disease for which no treatment currently exists.”

New Novel Drug – Testing in Myotonic Dystrophy – Isis

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Recently Isis Pharmaceuticals gave a talk at the myotonic dystrophy foundation conference in San Fransisco, CA. This talk including just information that had been publicly given out previously. However, one of the lead researchers in the Myotonic Dystrophy field commented that this new drug that Isis is pursuing in collaboration with Biogen could be the “Fountain of Youth Drug”. The basic mechanism of antisense technology, if aging is caused by cell clogging with these proteins that are not being released to proper area. This could be a hug huge blockbuster drug that would exceed everyone potential.

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Myotonia Drugs to Help prevent Muscle Contractures and Seizures

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Here is some information about a drug that may help with muscle contractures and seizures. My son recently had several episodes where he would lose balance and sink to the ground, not really tripping but losing strength and we suspected that he may be having myotonia contractures. What this is simply is that muscles in his legs are seizing up and not moving so that the body can not remain upright. We are looking at some of these drugs to see if they may be helpful. The one that has been mentioned most is mexiletine. There are a couple others but Dr. Moxley at the University of Rochester has studies this drug more than most. His experience with Myotonic Dystrophy is extensive.

The study did not measure outcomes. That is they studies it and saw it reduced ontraction time in patients muscles. They did not look to see if it made a difference in their everyday lives such as walking or opening cans. So no real evidence it helps outcomes, but it seems to work from the researchers standpoint.

The study here was presented at one of the IDMC meetings. Will be giving this drug a try if the doctors agree it may help and not affect any of his cardiac issues, like level 1 heart block.

 

Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1(LOE Classification)

This article has been cited by other articles in PMC.

Abstract

Objective:

To determine if mexiletine is safe and effective in reducing myotonia in myotonic dystrophy type 1 (DM1).

Background:

Myotonia is an early, prominent symptom in DM1 and contributes to decreased dexterity, gait instability, difficulty with speech/swallowing, and muscle pain. A few preliminary trials have suggested that the antiarrhythmic drug mexiletine is useful, symptomatic treatment for nondystrophic myotonic disorders and DM1.

Methods:

We performed 2 randomized, double-blind, placebo-controlled crossover trials, each involving 20 ambulatory DM1 participants with grip or percussion myotonia on examination. The initial trial compared 150 mg of mexiletine 3 times daily to placebo, and the second trial compared 200 mg of mexiletine 3 times daily to placebo. Treatment periods were 7 weeks in duration separated by a 4- to 8-week washout period. The primary measure of myotonia was time for isometric grip force to relax from 90% to 5% of peak force after a 3-second maximum grip contraction. EKG measurements and adverse events were monitored in both trials.

Results:

There was a significant reduction in grip relaxation time with both 150 and 200 mg dosages of mexiletine. Treatment with mexiletine at either dosage was not associated with any serious adverse events, or with prolongation of the PR or QTc intervals or of QRS duration. Mild adverse events were observed with both placebo and mexiletine treatment.

Conclusions:

Mexiletine at dosages of 150 and 200 mg 3 times daily is effective, safe, and well-tolerated over 7 weeks as an antimyotonia treatment in DM1.

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Daytime Sleepiness in Myotonic Dystrophy Causes

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This is a study (1994)  that looked at the causes of sleepiness in patients with myotonic dystrophy. They concluded that these sleep issues are not caused by sleep apnea. A number of the patients were able to get some relief with Ritalin. Ritalin has a low amount of cardiac side effects. However, this drug may have some cardiac side effects so clear it with your doctor cardiologist before use

Daytime Sleepiness is not caused by Sleep Apnea

J Neurol Neurosurg Psychiatry. 1994 May;57(5):626-8.

Daytime sleep in myotonic dystrophy is not caused by sleep apnoea.

Source

Department of Neurology, University Hospital Rotterdam-Dijkzigt, The Netherlands.

Abstract

Daytime sleepiness is common in myotonic dystrophy and might be attributed to disturbed nocturnal breathing. Seventeen out of 22 patients complained of excessive daytime sleepiness, resembling “idiopathic hypersomnolence”. Sleep apnoea might have contributed to daytime sleepiness in only three of 17 patients. Treatment with the central stimulant methylphenidate produced sustained benefit in seven out of 11 patients tested. Daytime sleepiness in myotonic dystrophy is usually caused by dysfunction of central sleep regulation and not by disturbed nocturnal breathing.