View clinical trials related to Myotonic Dystrophy.
Filter by:The study design is a prospective cohort study. It aims to evaluate the neuromuscular junction in dystrophic myotonia 1 (DM 1) using low-frequency repetitive nerve stimulation (RNS) on several nerve-muscle pairs of the one side including proximal and distal muscles of upper and lower extremities. First, it will be investigated whether a decrement with 3 Hz stimulation, as described in literature, is reproducible in our patient population. If this is the case, it will be examined whether it is the consequence of a dysfunction of the neuromuscular junction or rather linked to a hypo-excitability of some muscle fibers due to myotonia. For this purpose, additional tests including short exercise test (to observe any decrement resulting from an inexcitability in myotonic muscle fibers) and needle EMG (for mapping myotonic discharges in the muscles tested with repetitive nerve stimulation) will be performed. Single fiber-EMG will not be provided in this study as an abnormal result does not necessarily indicate a dysfunction of the neuromuscular junction but could just as well be due to the muscular dystrophy in the context of DM1. Finally, it will be investigated if there is a correlation between the decrement with 3 Hz stimulation and clinical signs as fixed muscle weakness (via Medical Research Counsil (MRC) scale, DM-activ scale [30]) and fatigue (via MG-ADL scale).
Myotonic Dystrophy type 1 (DM1) is a genetic multisystem disease causing muscle weakness and myotonia. As a result, upper limb function might become impaired. There are little research regarding rehabilitation and exercise for upper limb function in DM1. It is known from research on lower limb function in DM1 and other muscular dystrophies, that there are possibilities to improve function also in these deteriorating diseases. In this single subject experimental design study, 6-10 adults with DM1, who are at an inpatient rehabilitation center, will get intensive, but personally adapted senso- and robot assisted rehabilitation for arm- and hand function with Tyromotion Amadeo and Armeo Senso. These devices have previously been used in rehabilitation research for other neurological conditions. The participants will be followed up, and evaluated at a weekly basis, using video consultations. Fine motor skill dexterity test (9HPT) and the Nut and Bolt test will be used, and active range of motion (ROM) and muscle strenght and movement of upper limb will be measured. Furthermore, patient reported outcome measures (PROMS) on hand impairment and myotonia will be used, all with purpose to evaluate upper limb function.
The study team hypothesize that non-diabetic patients with Myotonic dystrophy type I (DM1) will improve their symptoms, especially their motor deficit which is the main feature of the disease, because of the splicing defect correction by metformin. The primary objective of the study is to evaluate the efficacy of metformin vs placebo, on the improvement of muscle function in patients with DM1 compared to its placebo. As the secondary objectives, the study aims: - To evaluate the safety of metformin on patient with DM1. - To evaluate the efficacy of metformin vs placebo on: 1. The hand-grip strength; 2. The thumb-index pinch strength; 3. The locomotor function; 4. The respiratory function; 5. The cardiac function; 6. The quality of life; 7. The daily and social activity.
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).
AOC 1001-CS2 (MARINA-OLE) is a Phase 2 extension of the AOC 1001-CS1 (MARINA) study to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of multiple-doses of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) patients
20 women with myotonic dystrophy type 1 (DM1) will complete a 12-week lower-limb strength training program. The training program consist of 3 series of 6 to 8 maximal repetitions of 5 different exercises: Leg extension, leg press, hip abduction, squat and plantar flexion. Training sessions will be closely supervise and take place twice a week. It is hypothesize that the training program will induce muscular hypertrophy despite the genetic defect. The training program should also have positive effects on function. The participants will be evaluated at baseline, week 6, week 12, month 6 and month 9 to quantify the effects of the training program and if these effects will be maintained over time.
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.
The purpose of this study is to investigate the response after one bout of moderate-heavy resistance exercise in patients suffering from Myotonic Dystrophy type 1. There is still doubt about if these patients could benefit from resistance exercise, or if this mode of exercise is detrimental to their mobility and health. We aim to monitor the subjects during the recovery phase and investigate recovery in several ways.
AOC 1001-CS1 is a randomized, double-blind, placebo-controlled, Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of single and multiple-doses of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) patients (MARINA). Part A is a single dose design with 1 cohort (dose level). In Part A, the patient duration is 6 months as the treatment period is 1 day followed by a 6 month follow-up period. Part B is a multiple-ascending dose design with 2 cohorts (dose levels). In Part B, the patient duration is 6 months as the treatment period is 3 months followed by a 3 month follow-up period.