Active clinical trials for "Muscular Dystrophies"

This project adds to non-invasive BCIs for communication for adults with severe speech and physical impairments due to neurodegenerative diseases. Researchers will optimize & adapt BCI signal acquisition, signal processing, natural language processing, & clinical implementation. BCI-FIT relies on active inference and transfer learning to customize a completely adaptive intent estimation classifier to each user's multi-modality signals simultaneously. 3 specific aims are: 1. develop & evaluate methods for on-line & robust adaptation of multi-modal signal models to infer user intent; 2. develop & evaluate methods for efficient user intent inference through active querying, and 3. integrate partner & environment-supported language interaction & letter/word supplementation as input modality. The same 4 dependent variables are measured in each SA: typing speed, typing accuracy, information transfer rate (ITR), & user experience (UX) feedback. Four alternating-treatments single case experimental research designs will test hypotheses about optimizing user performance and technology performance for each aim.Tasks include copy-spelling with BCI-FIT to explore the effects of multi-modal access method configurations (SA1.3a), adaptive signal modeling (SA1.3b), & active querying (SA2.2), and story retell to examine the effects of language model enhancements. Five people with SSPI will be recruited for each study. Control participants will be recruited for experiments in SA2.2 and SA3.4. Study hypotheses are: (SA1.3a) A customized BCI-FIT configuration based on multi-modal input will improve typing accuracy on a copy-spelling task compared to the standard P300 matrix speller. (SA1.3b) Adaptive signal modeling will allow people with SSPI to typing accurately during a copy-spelling task with BCI-FIT without training a new model before each use. (SA2.2) Either of two methods of adaptive querying will improve BCI-FIT typing accuracy for users with mediocre AUC scores. (SA3.4) Language model enhancements, including a combination of partner and environmental input and word completion during typing, will improve typing performance with BCI-FIT, as measured by ITR during a story-retell task. Optimized recommendations for a multi-modal BCI for each end user will be established, based on an innovative combination of clinical expertise, user feedback, customized multi-modal sensor fusion, and reinforcement learning.

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).

Test the feasibility of using electrocorticography (ECoG) signals to control complex devices for motor and speech control in adults severely affected by neurological disorders.

The overall aim of this study is to hasten drug development for facioscapulohumeral muscular dystrophy (FSHD). Recent breakthroughs in FSHD research have identified the primary disease mechanism as the aberrant expression of a normally silenced gene, DUX4, resulting in a toxic gain-of-function. This disease mechanism is particularly amenable to knock-down of DUX4 using epigenetic strategies or RNA therapies, as well as to other interventions targeting the downstream effects of DUX4 expression. There are many drug companies actively working towards disease-targeted therapies, and two clinical trials either under way now, or planned to start in early Fall 2016. However, meetings with industry, advocacy groups, and FSHD researchers have identified several gaps in the clinical trial arsenal, and clinical trial planning as a major goal for the community. Consequently, there is an urgent need to establish the tools necessary for the conduct of currently planned and expected therapeutic trials in FSHD. To this end, the researchers propose to develop two novel clinical outcome assessments (COA), a composite functional outcome measure (FSH-COM) and skeletal muscle biomarker, electrical impedance myography (EIM). In addition there is broad consensus a better understanding of the relationship of genetic and demographic features to disease progression will be necessary for enumerating eligibility criteria. The specific aims are to: 1. Determine the multi-site validity of the COAs, 2. Compare the responsiveness of new COAs to other FSHD outcomes and determine the minimal clinically meaningful changes, and 3. establish FSHD cohort characteristics useful for determining clinical trial eligibility criteria. To achieve these aims, the Nice University Hospital is conducting a monocentric, prospective, 18 month study on 30 subjects.

Background: People with cerebral palsy, spina bifida, muscular dystrophy, or spinal cord injury often have muscle weakness and problems controlling how their legs move. This can affect how they walk. The NIH has designed a robotic device (exoskeleton) that can be worn on the legs while walking. The wearable robot offers a new form of gait training. Objective: To learn whether a robotic device worn on the legs can improve walking ability in those with a gait disorder. Eligibility: People aged 3 to 17 years with a gait disorder involving the knee joint. Design: Participants will be screened. They will have a physical exam. Their walking ability will be tested. Participants will have markers taped on their body; they will walk while cameras record their movements. They will undergo other tests of their motor function and muscle strength. The study will be split into three 12-week phases. During 1 phase, participants will continue with their standard therapy. During another phase, participants will work with the exoskeleton in a lab setting. Their legs will be scanned to create an exoskeleton with a customized fit. The exoskeleton operates in different modes: in exercise mode, it applies force that makes it difficult to take steps; in assistance mode, it applies force meant to aid walking; in combination mode, it alternates between these two approaches. During the third phase, participants may take the exoskeleton home. They will walk in the device at least 1 hour per day, 5 days per week, for 12 weeks. Participants walking ability will be retested after each phase....

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited myopathies in adults. It is associated with genetic and epigenetic deregulation of the D4Z4 locus on the sub-telomeric region of chromosome 4q35, resulting in abnormal expression of DUX4p. Type 1 FSHD (FSHD1) is the most common form of the disease and accounts for 95% of cases, while Type 2 FSHD (FSHD2) accounts for only 5% of all FSHD cases. FSHD1 and FSHD2 are closely related in terms of genetic and epigenetic foundations, pathophysiology and clinical manifestations. Although initially described as distinct entities based on their genetics, recent information suggests that both forms of myopathy may represent the opposite ends of a spectrum of molecular diseases in which alteration of the genetic and epigenetic factors that govern DUX4 suppression in skeletal muscle have a different impact in both forms of the disease. FSHD1 and FSHD2 are both associated with re-expression of DUX4 leading to muscle atrophy, but the genetics underlying this re-expression are different, depending on whether it is type 1 or type 2. For FSHD1, it is associated with a critical contraction of the D4Z4 region and the 4qA permissive allele, leading to the expression of DUX4. In contrast, FSHD2 is caused by the inheritance of two independent genetic variations. A heterozygous mutation, mainly located on the SMCHD1 (Structural Maintenance of Chromosome flexible Hinge Domain containing 1) gene, results in a loss of function of chromatin D4Z4 repressor. This mutation, combined with the 4qA allele bearing the DU4 polyadenylation site, makes this allele permissive for the expression of the DUX4 topical gene. Therefore, because the two forms of FSHD are genetically distinct and very few patients have FSHD2, our knowledge of the impact of chromatin D4Z4 repressors, such as SMCHD1, or the progression and severity of the disease remains very limited. It is important to note that a lack of reliable biomarkers specific to the severity and progression of the disease may prevent the development of therapies to treat patients with FSHD2. This study will allow us to better understand the natural progression of FSHD2 over time, to assess the responsiveness of clinical outcome measures (COMs) and to identify and validate inflammatory serum biomarkers predicting the severity and progression of the disease.

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

This is a controlled, open-label, single-ascending dose study to evaluate the safety, tolerability and efficacy of SGT-001 in adolescents and children with Duchenne muscular dystrophy (DMD). Patients will receive a single intravenous (IV) infusion of SGT-001 and will be followed for approximately 5 years. The protocol was amended to drop the control arm after 4 subjects were dosed. Subjects currently enrolling are assigned to active treatment. Control subjects enrolled under original protocol will continue through the study per the original protocol.

This is the extension study of NS-089/NCNP-02 (Study NCNP/DMT02), which is designed to assess the safety, tolerability and efficacy of NS-089/NCNP-02 in patients with Duchenne muscular dystrophy (DMD).

The proposed clinical trial is the first-in-human, single-center, open-label, gene delivery study of SRP-9003 (bidridistrogene xeboparvovec) in participants with LGMD2E.