View clinical trials related to Myotonic Dystrophy.
Filter by:This is an open-label, multi-centre, single arm, interventional study to describe the steady-state PK, safety, and efficacy of mexiletine in paediatric patients (6 to <18 years of age) with myotonic disorders.
Myotonic dystrophy (dystrophia myotonica - DM) exists in two forms, usually referred to as DM1 (type 1) and DM2 (type 2). Both conditions are genetic disorders but each affects a different gene. DM1 is the most common adult-onset muscular dystrophy, and is thought to affect at least 1 in 8,000 people worldwide. The aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease in the UK. By maintaining a national registry this will help identify potential participants eligible for clinical trials in the future.
Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers; and incomplete characterization and limited biological understanding of the phenotypic heterogeneity of Myotonic Dystrophy 1 by examining strategies to improve the reliability by making further refinements in our sample collection and analysis procedures by developing strategies for managing patient heterogeneity going forward. Funding Source- FDA OOPD
The aim of the study is to evaluate if the electrophysiological study (EPS) guided therapy, including the prophylactic implantation of implantable cardioverter defibrillator (ICD), in inducible patients, is able to improve survival in comparison with conventional therapy (CONV strategy) in Myotonic Dystrophy type 1 patients with conduction disorders.
The aim of this study is to determine the factors associated with alveolar hypoventilation in terms of cognitive impairment, daytime sleepiness, respiratory function, nocturnal respiratory events This evaluation will clarify the clinical phenotypes of respiratory disease in myotonic steinert dystrophy.
Investigators identified a high risk of deep vein thrombosis and pulmonary embolism in patients presenting myotonic dystrophy type 1 treated in our hospital, 10 times higher than general population matched on age and sex. These venous thromboembolic events were frequently severe and lethal. Investigators suspect that this high risk of venous thromboembolism is due to coagulation abnormalities specific to myotonic dystrophy type 1. The purpose of this study is to determine: 1/ if there is a hypercoagulable state in myotonic dystrophy type 1 by testing patient's coagulation, and 2/ if genes encoding factors involved in coagulation have modified expression resulting in this hypercoagulable state. Understanding the pathophysiology will help preventing venous thromboembolism in these patients. It is the first study to describe this specific issue.
Congenital Myotonic Dystrophy (CDM) is a multi-systemic, dominantly inherited disorder caused by a trinucleotide repeat expansion (CTGn) in the DMPK gene. CDM occurs when the CTGn increases between the adult myotonic dystrophy type-1 (DM1) parent and the child. Children with CDM present at birth with respiratory insufficiency, talipes equinovarus, feeding difficulties and hypotonia. There is a 30% mortality rate in the first year of life. As children grow, they are at risk for intellectual impairment, autistic features, gastrointestinal symptoms, and motor delay. The investigators will enroll children with CDM between ages 0-15 with visits at baseline and one year to evaluate appropriate physical functional outcomes, cognitive function and quality of life over time. Functional outcome measures will be correlated with potential biomarkers in the children. Completion of these specific aims will extend the understanding of disease progression in CDM and will provide the requisite information for successful therapeutic trials in children with DM.
It has been suggested that patients with Myotonic Dystrophy type 1 have primary altered ventilatory response to chemical stimuli and chronic hypoventilation is related not always to muscle weakness. Also, it is known that Non Invasive Mechanical Ventilation can improve ventilatory response to chemical stimuli, especially to hypercapnia. This study evaluates the effect of Non Invasive Mechanical Ventilation on ventilatory response in patients with Type 1 Myotonic Dystrophy, the ventilatory response to chemical stimuli will be measured before and after mechanical ventilation in patients with myotonic dystrophy type 1.
The Myotonic Dystrophy Family Registry (MDFR) is an online, patient-entered database that collects information on myotonic dystrophy (DM) to aid researchers in developing new, effective treatments and help identify participants for research studies and clinical trials.
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.