View clinical trials related to Muscular Dystrophies.
Filter by:The most common muscular dystrophy among pediatric neuromuscular diseases is Duchenne Muscular Dystrophy (DMD). There is no consensus on a standardized physiotherapy and rehabilitation program or exercise prescription in DMD. Motor imagery (MI) is defined as visualizing motor activities in one's mind without performing any movement. There are studies examining the effectiveness of motor imagery in stroke, cerebral palsy, Parkinson's, peripheral facial paralysis, and phantom pain. This study is aimed to examine the effect of motor imagery on gait and balance functions in children with Duchenne Muscular Dystrophy. Boys residing in Istanbul Turkey, between the ages of 5 and 12, with a diagnosis of DMD who have not lost their ability to ambulate independently will be included in the study. The included individuals will be divided into two groups due to randomization: Group A (Control Group Physiotherapy and Rehabilitation Program) and Group B (Additional Motor Imagery Training to Intervention Group Physiotherapy and Rehabilitation Program). While the physiotherapy and rehabilitation program is applied to the participants in Group A with 40-minute sessions on 2 non-consecutive days of the week for 8 weeks, the participants in Group B will receive an additional 25-30-minute motor imagery program to the physiotherapy and rehabilitation program. Participants were tested with Kinovea Gait Analysis, Timed Up and Go Test, 2 Minute Walking Test, Motor Function Rating Scale for Neuromuscular Diseases, timed performance tests, Pediatric Berg Balance Scale, Pediatric Fear of Fall Questionnaire (Ped-FOF) before and after the program. will be evaluated later. IBM SPSS (Statistical Package for Social Sciences) statistical program version 22.0 will be used for statistical analysis. The conformity of the variables to the normal distribution will be determined by the "Shapiro-Wilk Test". If the variables show normal distribution, the variation within the group will be analyzed with the "Paired Sample T Test", if not, the "Wilcoxon Test" will be analyzed. In the comparison between groups, if the variables show normal distribution, it will be done with the "Independent T Test" in independent groups and the "Mann Whitney U Test" if they do not show normal distribution. Categorical data distributions will be evaluated with the "Chi-square test". In all analyses, p<0.05 will be considered statistically significant.
The LYNX study is a 2-part, multicenter, Phase 2 study of safety, pharmacokinetics and biomarkers in children with Duchenne muscular dystrophy including a randomized, double-blind, placebo-controlled part A, followed by an open-label part B.
The primary purpose of this study is to evaluate the safety, tolerability, and dystrophin protein levels in muscle tissue following multiple intravenous (IV) doses of DYNE-251 in participants with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping. The study consists of 3 periods: a multiple-ascending dose (MAD) / placebo-controlled period (24 weeks), an open-label period (24 weeks) and a long-term extension period (96 weeks).
Duchenne muscular dystrophy (DMD) is the most common, progressive, irreversible muscular dystrophy. The pulmonary function is crucial for the duration of life in this disease. The European Respiratory Society is currently focused on digital health, seeking to define the realistic innovations for digital respiratory medicine to support professionals and patients during the COVID-19 pandemic. This study aimed to investigate whether it is possible to monitor pulmonary function at home by using an individual electronical spirometry system in children with Duchenne muscular dystrophy DMD. The second aim of the study is the implementation of respiratory telerehabilitation and the assessment of its impact on pulmonary function (FVC).
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common adult muscular dystrophy with an estimated prevalence range of 2-7 per 100,000. The disease is characterized by slowly progressive, asymmetric muscle weakness that starts with the face and scapular muscles. It causes significant lifetime morbidity, with up to 20% of patients eventually requiring full-time wheelchair use. However, there is a large degree of clinical variability in both disease progression and severity. This makes predicting an individual's disease course difficult and has made clinical trial design challenging. The disease is caused by the aberrant expression of a normally silenced gene, DUX4, which causes disease by a toxic gain-of-function. The establishment of a unifying model for the cause of FSHD made it possible to develop disease-specific targeted treatments. Pharmaceutical companies are actively investigating therapeutic approaches in order to knockdown or silence DUX4, including the use of antisense RNA oligonucleotides which is already investigated for spinal muscular atrophy, Duchenne muscular dystrophy, and myotonic dystrophy. The drug development pipeline for FSHD over the next 5 years looks promising but meetings with industry, advocacy groups, and FSHD scientific experts have identified several gaps that need to be addressed to accelerate efficient drug development. As drugs move from preclinical testing into human trials, it is essential to validate clinical trial tools and methodologies to facilitate drug development. There is a strong need for clinical outcome measures (COMs) including biomarkers, strength outcomes, functional measures and patient reported outcomes to follow disease progression and to evaluate treatment efficacy. A large international multicenter study is currently ongoing in order to validate COMs in ambulant FSHD patients (ReSolve, NCT03458832). Additionally, Nice University Hospital is conducting an ancillary study (CTRL FSHD France, NCT04038138) to evaluate muscle MRI, an additional emerging biomarker, to follow disease progression in the same patient population. To limit patient heterogeneity, only ambulant FSHD patients are included in these 2 ongoing studies. It is therefore important to generate data in severely affected non-ambulant FSHD patients, in order to validate COMs that are adapted to this specific subgroup of patients for future therapeutic trials.
The hypothesis tested here is that a lower dose of intermittent oral corticosteroids (5mg/kg/week) will be equally effective to the 10mg/kg/week dose.
The primary objective of the Schulze study is to evaluate the function of the upper limbs of subjects diagnosed with neuromuscular disorders, with and without use of the Abilitech Assist device in the clinic and home environments. Functional outcomes will include documenting active range of motion and the ability to perform activities of daily living (ADLs) using the standardized Canadian Occupational Performance Measure (COPM) and the Role Evaluation of Activities of Life (REAL) assessments. Secondary objectives are to assess the safety record and report on adverse events (AEs) and parameters related to device usage, including device usage time and the time required to don/doff the device. Secondary objectives also include characterization of user upper limb performance based on etiology.
Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvement being life-threatening. At the skeletal muscle level, a wide phenotypic spectrum has been described, ranging from severe forms of congenital muscular dystrophy to less severe forms of limb-girdle muscular dystrophy. The great clinical variability of striated muscle laminopathies, both inter- and intra-familial, can be observed in the age of onset, severity of signs and progression of muscle and heart involvement. To date, more than 400 LMNA mutations have been associated with striated muscle laminopathies (www.umd.be/LMNA/), highlighting strong clinical and genetic heterogeneity. A few recurrent mutations linked to a difference in severity have been identified. However, these genotype-phenotype relationships and the rare cases of digenism reported do not explain all the clinical variability of laminopathies. Therefore, there are probably other factors of severity than the causative mutation, called "modifier genes". Identification of such modifier genes has been initiated by studying a large family with significant clinical variability in the age of onset of muscle signs. A segregation analysis within this family identified 2 potential modifier loci. High-throughput sequencing restricted to these 2 regions according to phenotypic subgroups did not led to meaningful results so far. In addition, an international retrospective study of the natural history of early muscle laminopathies has allowed the investigators to highlight a strong inter-family clinical variability in patients carrying recurrent mutations. The investigators thus have strong preliminary data that could allow them to identify modifying genetic factors in a cohort of patients carrying a mutation in the LMNA gene. In order to identify these factors that modulate the clinical severity of laminopathies, the investigators wish to collect biological material (muscle and/or skin biopsies) from patients carrying a mutation in the LMNA gene. The study of this biological material using multi OMICs technics will allow the investigators to identify and functionally validate the action of these modifying genes. OMIICs is a set of techniques for characterising biological molecules using high-throughput approaches such as DNA sequencing, RNA sequencing and/or chromatin conformation (ATACseq...), proteins.
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system. SVs are a type of genetic alternation that includes deletions, duplications, and both balanced and unbalanced rearrangements (ex: inversions or translocations), as well as specific repeat expansions and contractions. The results of OGM analysis will be compared to prior clinical genetic test results to determine how OGM compares to current standard of care (SOC) clinical test methods such as chromosomal microarray analysis (CMA), karyotyping, Southern blot analysis, polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH), and/or next generation sequencing (NGS), etc.
A study of sevasemten (EDG-5506) in Becker muscular dystrophy (known as CANYON) and pivotal cohort (known as GRAND CANYON). The EDG-5506-201 CANYON study was expanded to include an additional 120 adult participants in a cohort called GRAND CANYON, that is a multicenter, randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of sevasemten in adults with Becker. CANYON is fully enrolled; GRAND CANYON is currently enrolling.