Mexiletine and Non Dystrophic Myotonias (MYOMEX)

Treatment strategies in non-dystrophic myotonias are based on selective case reports, clinical experience and theoretical benefit. Presently, the most promising antimyotonic medication is mexiletine (MEX) but its manufacturing was stopped. The proposed randomized, double-blind, placebo-controlled, crossover trial is designed to:

  1. study the safety and efficacy of mexiletine for the treatment of non-dystrophic myotonias
  2. validate electromyographic tests as a standardized outcome measure of myotonia
  3. assess the reliability and validity of a new clinical rating scale for myotonia

Characteristics of Episodic Ataxia Syndrome

Episodic ataxia (EA) is a rare genetic disease characterized by episodes of imbalance, incoordination, and slurring of speech. The underlying cause of EA is only partly understood, and currently there are no established treatments. There is also little information about the link between EA’s clinical features and its genetic basis. The purpose of this study is to better characterize EA and disease progression. In turn, this may direct the development of future treatments.

 

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.