View clinical trials related to Myotonic Dystrophy.
Filter by:The goal of this observational study is to learn about swallowing difficulties (dysphagia) in patients living with myotonic dystrophy type 1 (DM1). The main questions it aims to answer are: - whether the size and structure of the muscles involved in swallowing differ to those without the disease - how the size and structure of muscles may associate with swallowing function and swallowing symptoms in this group. Participants will undergo a range of tests including: - Ultrasound (US) assessment of the muscles involved in swallowing - An x-ray swallowing study (known as videofluoroscopy) - Assessment of swallowing symptoms, including questionnaires - Assessments of mobility, activity and breathing - Assessments of quality of life and wellbeing
Nearly two-third of patients with myotonic dystrophy type 2 (DM2) report that impaired cognition is among the most disabling symptoms and deeply affects their quality of life. Yet, relatively little is known about how DM2 affects brain structure and cognitive function as brain imaging studies in DM2 are extremely limited. This is a prospective, cross-sectional study of brain structure and function on cognitive and motor performance in patients with DM2 compared to healthy controls. All participants will undergo magnetic resonance imaging (MRI) to evaluate brain structure and white matter integrity, a comprehensive battery of cognitive and motor measures, self-reported questionnaires, and blood collection for brain-based biomarker analysis. A subset of participants will undergo lumbar puncture for cerebrospinal fluid (CSF) collection for additional biomarker analysis and validation. This work is critical to inform the development of rigorous clinical trial designs and plan for a longitudinal study to evaluate MRI measures as imaging biomarkers of disease progression and therapeutic response in DM2.
The primary purpose of the study is to evaluate the safety and tolerability of multiple intravenous (IV) doses of DYNE-101 administered to participants with Myotonic Dystrophy Type 1 (DM1). The study consists of 4 periods: A Screening Period (up to 8 weeks), a multiple-ascending dose (MAD) Placebo-Controlled Period (24 weeks), a Treatment Period (24 weeks) and a Long-Term Extension (LTE) Period (96 weeks).
The overall goal of the study is to establish valid clinical endpoint assessments for children with congenital myotonic dystrophy type 1 and childhood myotonic dystrophy type 1, and develop biomarkers for the condition.
The COVID-19 pandemic exacerbates health problems by reducing access to adapted and advanced physical rehabilitation for several people who need rehabilitation services, including the population with myotonic dystrophy type 1 (DM1). The PACE tool, an innovative web tool integrating pragmatic physical activity programs, seems to be an interesting and innovative intervention to counter physical deficiencies of people with DM1, which are unfortunately accentuated by the pandemic, while reducing the risk of COVID-19 exposure. Objectives: 1) Evaluate the feasibility, usability and acceptability of the PACE tool in the DM1 population; 2) Evaluate the effects of the intervention on their physical and cognitive health; and 3) Estimate the cost-effectiveness ratio of this intervention. Method: Sixty people (experimental group = 40 and control group = 20) will participate in this randomized intervention study. Participants in the experimental group will be assigned to one of the 35 physical activity programs adapted to their condition of the PACE tool. The program must be performed on a daily basis for a period of 12 weeks. Physical and cognitive health will be assessed before and after the remote intervention via ZOOM, for all participants.
Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample.
Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.
Myotonic Dystrophy type 1 (DM1) is a multisystem disease that causes muscle weakness and myotonia. As a result upper limb function might become impaired. In this study we will examine patients with DM1 and record their upper limb function. We will will use a battery of patient reported outcomes (PROs) and Outcome measures (OMs) in order to evalute which ones are suitable for use in clinical practise and research studies.
This is an open-label phase 2/3 study for individuals with Congenital Myotonic Dystrophy (Congenital DM1) who participated in the preceding AMO-02-MD-2-003 study or individuals with either Congenital or Childhood Onset DM1 who are treatment naïve.
The cognitive disorders of adult forms of myotonic dystrophies type 1 are heterogeneous (impairment of executive functions, visio construction and theory of the mind, which can progress to the stage of dementia). Nevertheless, patients have very different degrees of cognitive impairment. Expansion of CTG triplets disrupts the alternative splicing of mRNAs of various proteins, including the insulin receptor and Tau protein. Type 2 diabetes, associated with peripheral insulin resistance, is therefore common in this pathology. Type 2 diabetes,could to explain the cognitive impairment of patients, through the accelerated development of brain lesions (especially tauopathy and cerebral atrophy).