Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome

Andersen-Tawil Syndrome (ATS) is a rare genetic disorder that causes episodes of muscle weakness, potentially life-threatening changes in heart rhythm, and skeletal developmental abnormalities. The cause of some ATS cases remains unknown, and no specific treatments have been established. The purpose of this study is to determine whether potassium supplements and/or the medication acetazolamide affect the duration of muscle weakness and heart rhythm abnormalities in people with ATS.

 

Characteristics of Andersen-Tawil Syndrome

Andersen-Tawil Syndrome (ATS) is a rare, genetic disorder that causes episodes of muscle weakness, potentially life-threatening changes in heart rhythm, and developmental abnormalities. Disease symptoms can vary, the cause of some ATS cases remains unknown, and no specific treatment has been identified. The purpose of this multi-site study is to better characterize ATS, establish whether symptoms change over time, and determine if symptoms are related to a mutation in the KCNJ2 gene.

 

Consortium for Clinical Investigation of Neurologic Channelopathies (CINCH)

Welcome to the Consortium for Clinical Investigations of Neurological Channelopathies

Why am I here?
This consortium exists to bring together physicians and patients for the sake of Neurological Channelopathies research.

What can I do?
Take Action. Learn more about joining our registry. Research offers no guarantees, but one thing is for certain, research cannot move forward with out your help. Every active role a patient takes may possibly play a part in discovering new groundbreaking research and finding new treatments.

Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find the Optimum Steroid Regimen (FOR-DMD)

The Finding the Optimum Regimen for Duchenne Muscular Dystrophy (FOR DMD) study will compare three ways of giving corticosteroids to boys with Duchenne muscular dystrophy (DMD) to determine which of the three ways increases muscle strength the most, and which causes the fewest side effects. Using the results of this study, the investigators aim to provide patients and families with clearer information about the best way to take these drugs.

Contact: Kimberly Hart
585-275-3767
kim_hart@urmc.rochester.edu

Sponsor: University of Rochester

The International IBM Consortium Genetic Study

The primary pathogenesis of IBM is not determined, although in IBM the aggregated proteins are in muscle tissue, many such as tau, alpha synuclein, TDP-43, beta amyloid and the prion protein are implicated in neurodegeneration. It is possible that the defective processes that lead to the formation of these abnormal protein deposits are likely to have important implications for many neurological disorders.

2014 MSG Annual Meeting

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The 2014 Muscle Study Group Meeting took place at the Beaver Hollow Conference Center (Java Center, NY) – September

The meeting, titled “Economic Considerations in the Development of New Treatments for Neuromuscular Diseases” brought together members of the pharmaceutical industry, NIH and academic researchers.

Final Agenda

2014 MSG Meeting Final Agenda

Abstracts

Meeting abstracts were published in Muscle and Nerve 2014;50:S1 (September 2014)

Presentations

The Muscle Study Group has received approval from the authors to publish the following presentations on our website.

Transcriptome Profiling Identifies Key Differences Between Patients with Recessive or Dominant Negative Mutations in Collagen VI Related MyopathiesRussell Butterfield

Complications of Pregnancy in Myotonic DystrophyNicholas Johnson

Funding New Investigators: The Role of the CTSAs Karl Kieburtz

Targeting Mitochondrial Free Radical Production in Aging Skeletal MuscleDavid Marcinek

Outcomes: MDA-NINDS WorkshopJohn Porter

Cataloging FDA’s Flexibility in Subpart H and Orphan Drug ApprovalsFrank Sasinowski

Patient-Reported Outcomes (PROs) in Randomized Clinical Trials (RCTs)Ira Shoulson

MRI in Experimental Muscle TherapeuticsTracey Willis

Sponsors

The Muscle Study Group wishes to thank the sponsors of the 2014 annual meeting:

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2013 MSG Annual Meeting

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The 2013 Muscle Study Group Meeting was held at Lady Margaret Hall, Norham Gardens, Oxford, UK – September 16, 17 and 18.

The meeting was entitled “Novel Molecular Mechanisms of Neuromuscular Disease: Implications for Therapy” and brought together members of the pharmaceutical industry, NIH, FDA and academic researchers.

Final Agenda

2013 MSG Annual Meeting Final Agenda

Abstracts

Meeting abstracts were published in Muscle and Nerve 2013; 48:S1 (September 2013)

Sponsors

The Muscle Study Group wishes to thank the following for their support of the 2013 meeting:

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