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Myotonia Congenita clinical trials

View clinical trials related to Myotonia Congenita.

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NCT ID: NCT04799366 Completed - Clinical trials for Non-Dystrophic Myotonia

Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia

Start date: February 1, 2021
Phase:
Study type: Observational

In myotonia congenita (MC), mutations in the CLCN1 gene coding a key chloride channel expressed in muscle cells cause myotonia. On examination, the myotonia can be demonstrated as delayed muscle relaxation of muscle contractions after mechanical stimulations. Existing literature describe no muscle weakness in MC patients, however a recent muscle MRI study in non-dystrophic myotonia patients found structural abnormalities in affected muscles when examined using T1 and STIR imaging. The question remains whether the signs of structural changes in the muscle are merely due to the myotonia, or long-term effects of elevated stress of the tissue, and if so, whether those changes lead to clinically significant loss of contractile properties of the muscle. This study examines if the contractile properties of myotonic muscles are impaired in MC patients. 40 patients with Thomsens disease (n=20) and Beckers disease (n=20), respectively, will be included along with 20 healthy controls. Peak muscle torque is measured in the hand by hand dynamometer and in the thigh and calf muscles with a Biodex System 4 Pro Dynamometer and the cross-sectional area of the muscles are examined on T1-weighed and Dixon-MRI-scan. With the obtained data peak torque in strength tests, muscle hypertrophy, fat fraction in muscle tissue and contractility of the muscles, compared with healthy controls, will be assessed.

NCT ID: NCT02336477 Completed - Myotonia Congenita Clinical Trials

Mexiletine and Non Dystrophic Myotonias

MYOMEX
Start date: June 2011
Phase: Phase 3
Study type: Interventional

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

NCT ID: NCT02251457 Completed - Clinical trials for Myotonic Dystrophy 1

Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1

Start date: August 2014
Phase: Phase 1
Study type: Interventional

The purpose of this study is to gather preliminary data to determine if ranolazine is a safe and effective treatment for the symptoms of myotonia congenital, paramyotonia congenita, and myotonic dystrophy type 1. The duration of the study is 5 weeks.

NCT ID: NCT02161835 Completed - Congenital Myotonia Clinical Trials

Relations Between Myotonia and Fitness

Start date: April 2014
Phase: N/A
Study type: Interventional

Investigators aimed to investigate whether training can increase fitness levels in patients with myotonia, and thereby reduce the symptom of myotonia.

NCT ID: NCT01939561 Completed - Myotonia Congenita Clinical Trials

Lamotrigine as Treatment of Myotonia

Start date: November 2013
Phase: Phase 3
Study type: Interventional

Myotonia is a functional limiting symptom where the muscle stiffens on action leading to arrest of movement. Pharmacological treatment may make the difference between a physically restricted and a normal life. Today, patients with myotonia are treated with Mexiletine a medications resulting in adverse events up to 40 % and which very expensive and difficult to obtain. Our clinic has, forced by the above problems related to Mexiletine, treated a few patients with the drug Lamotrigine with pronounced positive effect in all. Lamotrigine belongs to the same category of drugs as Mexiletine but has fewer and milder side effects. Based on the similarities of the 2 drugs in pharmacological action and the positive experiences investigators are convinced that Lamotrigine will show a positive effect if evaluated in a broader scale. Due to the advantages of Lamotrigine compared to Mexiletine investigators find it of outmost importance for patients that this drug is assessed formally to establish Lamotrigine as a treatment choice for myotonia. Investigators believe that this will potentially make a huge difference in life quality for persons with myotonia. Investigators aim at investigating the efficacy and tolerability of Lamotrigine in the treatment of myotonia in a randomized doublet blinded placebo controlled crossover study.

NCT ID: NCT00244413 Completed - Myotonic Disorders Clinical Trials

Characteristics of Nondystrophic Myotonias

Start date: February 2006
Phase: N/A
Study type: Observational

Nondystrophic myotonias (NDM) are muscle disorders caused by genetic abnormalities in certain muscle cell membrane proteins. Individuals with NDM experience limited muscle relaxation, which causes pain, weakness, and impaired physical activity. The purpose of this study is to better characterize the clinical features and symptoms of NDM.