View clinical trials related to Myotonic Dystrophy.
Filter by:The European Home Mechanical Ventilation Registry (EHMVR) will enable a thorough evaluation of HMV by documenting the characteristics of HMV patients and their treatment. This will facilitate a prospective, observational study to identify the primary indications for HMV, describe patterns of HMV use in European countries, and characterize changes in the initiation and utilization of HMV over time. The registry will target all adult individuals who have an indication for HMV. In the EHMVR, patient data from routine clinical care will be documented using an electronic case report form (eCRF). The eCRF will record: patient demographic data; diagnostic information (including primary diagnosis, 6-minute walk time, the presence of depression, and quality of life); blood gases; ventilation treatment (including type of ventilator, modes and settings, interfaces used); follow-up data (including failure rates, side effects, technical issues). An initial Pilot Phase will be launched with the aim to enrol at least 200 patients over a 6-month period to determine the feasibility of the registry. Steering committee members and their institutions will be the main participants in the Pilot Phase. After completion of the Pilot Phase, the registry will be expanded across Europe with the goal of enrolling approximately 10,000 patients over 5 years.
This study will test the safety, tolerability, and pharmacokinetics of multiple escalating doses of ISIS-DMPKRx administered subcutaneously to adult patients with DM1.
The purpose of the study is to determine the best ways to assess how people are affected by myotonic dystrophy type 1 (DM1). The study will assess walking speed, muscle strength, muscle size, myotonia, heart rhythm, mental efficiency, and overall health. Participants will complete questionnaires to record their ideas about how they are affected by DM1. The study will evaluate people with DM1 over 1 year to determine how the condition changes over time. The study will identify biomarkers of DM1. Biomarkers are laboratory measurements that show the effects of DM1 on a person's muscle tissue or blood. Biomarkers are needed in future studies to determine how DM1 may respond to treatments.
Study to focus on the defining and managing the neuropsychological abnormalities of myotonic dystrophy and to find out if the neuropsychological abnormalities have any correlation with changes seen on Magnetic Resonance Imaging.
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.
Myotonic dystrophy type1 (DM1) is a rare, inherited, chronic progressive disease as well as an autosomal dominant multisystemic disorder. It is the most common adult form of muscular dystrophy, with a prevalence of approximately 10 per 100,000 people affected. With 733 million people in Europe, we estimate that 75,000 people are DM1 patients in Europe. The aim of OPTIMISTIC is to improve clinical practice in the management of patients with this rare disease for which no dedicated treatment is currently available. OPTIMISTIC is a multi-centre, randomised controlled trial designed to compare a two component tailored behavioural change intervention to increase physical activity against standard patient management regimes, with particular attention given to the definition of appropriate outcome measures and new clinical guidelines for DM1 management. The two components of the intervention are 1) cognitive behavioural therapy (CBT) and 2) graded physical activity and we will evaluate the intervention's effectiveness and safety against standard patient management. Participants will be recruited from myotonic dystrophy clinics and neuromuscular centres in France, Germany, the Netherlands and the UK. A total of 286 male and female patients aged 18 years and older with genetically proven classical or adult DM1 suffering from severe fatigue (only DM1 patients with a CIS subscale fatigue score > 35 are likely to benefit from the intervention), able to walk independently and able to complete the trial interventions will be included. A key objective of OPTIMISTIC is to provide outcome measures that are relevant for the patients and have a rate of change that is appropriate for a clinical trial timeframe. In addition, OPTIMISTIC will identify genetic factors that predict outcome and potential biomarkers as surrogate outcome measures that best explain the observed clinical variation.
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.
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Myotonic dystrophy type 1 is a myopathy with complex respiratory pattern and at risk to develop respiratory failure. Classical mode of ventilation are sometimes not tolerated or ineffective in this population. New modes of nocturnal ventilation by combining both volumetric and barometric advantages. The aim of this study is to compare effect of AVAPS mode to bilevel pressure support.
The purpose of this study is to determine whether methylphenidate is effective in the treatment of excessive daytime sleepiness due to myotonic dystrophy type 1 (DM1).