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Showing 1-20 of 241 trials
NCT01633866
The purpose of this study is to evaluate and optimize advances in radio frequency (RF) coil magnetic resonance imaging (MRI) technology at Cincinnati Children's Hospital Medical Center (CCHMC).
NCT07423026
Every year, 100 boys are born in the UK with a rare muscle disease called Duchenne muscular dystrophy. These boys cannot make an important muscle protein called dystrophin. They become weaker as they get older and lose the ability to walk as teenagers. This is a life-limiting condition. There is no cure, but medicines are being made that could help these boys make dystrophin. These medicines are most likely to work best in toddlers, before their muscles become damaged. There is no way of testing these medicines in children under four. In older children, it is possible to measure how well and how quickly a child can do movements like sitting up, standing up, and running. Unfortunately, these tests are not suitable for toddlers as they often struggle to listen and do what they are asked to do. Tiredness and mood can also affect their scores. Luckily, there is a new way of testing how well children move. They can wear special watch-like devices on their ankles that record information about their steps as they go about their normal lives. This is a good way of testing how well a child walks. It is now used to test medicines in children over four years old. Our aim is to test whether this device works well in children under four. This study will invite 30 boys with DMD (and their parent/caregiver) and 30 boys without DMD aged 1-3 years old from across the country to join the study. There are no hospital visits. Children will receive the watch-like devices to wear for three blocks of 28-days over six months during their normal daily activities. At the start and end of the study, a physiotherapist will visit the homes of boys with DMD. They will check their movements using other tests. The investigators will find out 1) if young boys are happy to wear the device, 2) how it compares to other tests, and 3) if it can detect changes in walking ability. This study could give us a way to test medicines in younger children. Wearable devices could cut down the travel and stress of tests for boys and their families. Children with learning or behavioural difficulties, and children living far from research centres could now also take part in studies of new medicines. This study could bring us a step closer to treating this life-limiting disease.
NCT07160634
This is a Phase 3, double-blind, placebo-controlled study with the primary objective of evaluating the efficacy of a single IV infusion of SGT-003 in pediatric ambulant male participants with DMD. The secondary objectives include the evaluation of additional efficacy and safety outcomes. The study will be divided into 2 parts. Participants will be randomized 1:1 to either SGT-003 in Part 1 followed by placebo in Part 2 or to placebo in Part 1 followed by SGT-003 in Part 2. Participants will continue to be monitored in long term follow up (LTFU) for at least 5 years from their SGT-003 dosing date.
NCT06295718
Thanks to tele-assessment methods, it may be possible to evaluate DMD patients without traveling to clinical centers. In recent years, the applicability of remote assessment methods in DMD patients, as in many populations, is being investigated. However, studies have generally focused on a single evaluation parameter such as physical function, a special evaluation method or a special evaluation tool. The aim of this study is to investigate whether remote assessment of functional performance and quality of life in DMD patients is valid and reliable. If a valid and reliable tele-evaluation method that includes functional performance and quality of life parameters is found to be valid and reliable, the travel burden on patients and caregivers can be eased, patients\' stress and anxiety related to travel can be reduced, caregivers can save time and energy and provide patients with the best possible treatment.
NCT07581743
The treatment of patients diagnosed with DMD needs to be multidisciplinary, judicious, and always focused on the patient's well-being. Physiotherapy and occupational therapy are very often standard care. Physiotherapy is regarded as crucial for the success of treatment, since it has achieved good results in the short term, such as maintaining the autonomy of these individuals . Physical activity is another method that has been used to treat DMD. Studies have used physical exercise in individuals with DMD in order to decrease muscle deterioration, muscle contractures, and bone fractures, and to increase the time of functional independence
NCT05644522
The goal of this clinical trial is to evaluate the impact of using the Nomad powered KAFO in people who have had a musculoskeletal or neurological injury that has affected their ability to walk. The main questions it aims to answer are to quantify the effectiveness of the Nomad in improving mobility, balance, frequency of falls, and quality of life in individuals with lower-extremity impairments compared to their own brace, over three months of daily home and community use. Participants will: * Wear a sensor that records everyday activities and mobility. * Perform measures of mobility and different activities of participation using their own brace. * Perform measures of mobility and different activities of participation using the Nomad powered KAFO
NCT07565272
This study aims to evaluate the usability, user experience, and tolerability of a virtual reality-based rehabilitation game platform specifically developed for individuals with Duchenne muscular dystrophy. Participants will complete a single-session gameplay experience using an immersive virtual reality headset with hand-tracking technology. Following the gameplay session, usability, enjoyment, and potential virtual reality-related discomfort will be assessed using standardized questionnaires and qualitative feedback. The study is exploratory and formative in nature and does not aim to evaluate clinical effectiveness.
NCT07543302
The intended investigation is a pilot study to evaluate the safety and efficacy of a novel transcutaneous auricular vagus nerve stimulator system, termed TRAVAGUS ONE, to reduce systemic levels of inflammatory mediators in patients with Duchenne muscular dystrophy (DMD). Electrical vagus nerve stimulation is an investigational anti-inflammatory therapy targeting the nervous system to modulate dysregulated inflammation. DMD is a severe genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein named dystrophin that helps keep muscle cells intact. The disease affects male children, and the symptom onset is in early childhood. In addition to the muscle degeneration all patients suffer from severe systemic inflammation and express increased systemic levels of proinflammatory molecules, which can be quantified in peripheral blood samples. Daily, systemic corticosteroid therapy with high doses is the standard of care in DMD to control symptoms and to slow disease progression through potent anti-inflammatory activity. Unfortunately, high dosage and long-term use of corticosteroids are typically also accompanied by severe adverse effects that reduce the quality of life in DMD patients. There is thus a great need for improved anti-inflammatory treatment with less severe adverse effects. In the planned pilot study involving 20 DMD patients aged 5-17 years, the investigators intend to treat each patient for one week in their home environment using transcutaneous auricular vagus nerve stimulation (taVNS) with a novel device named Travagus One to find out whether this intervention is safe and may reduce systemic levels of proinflammatory molecules. Venous blood samples will be collected at three different time points before and after the taVNS treatment period. Note: This study relates to an FDA-nonregulated Device. There are no U.S. Locations for the study. The study was approved by the Swedish Medical Products Agency.
NCT05747924
A Randomized, Double-blind, Placebo-controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of AOC 1020 Administered Intravenously to Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)
NCT06907875
The goal of this clinical trial is to learn how safe and tolerable EPI-321 is and whether there may be early signs it is working in male or female adult (18 to 75 years) participants with facioscapulohumeral muscular dystrophy (FSHD) Type 1 condition. The main questions it aims to answer are: How safe is EPI-321 and how well can people handle it over time? How does EPI-321 interact with its target and does it show early signs of working? Participants will receive a single dose of EPI-321 through a vein while being closely watched in a hospital and visit the clinic regularly for tests and checkups for about 5 years after getting EPI-321.
NCT06817382
The primary objective of this study is to evaluate the safety and tolerability of a single dose of INS1201 via IT administration in ambulatory male participants with DMD.
NCT06839469
The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.
NCT07250737
The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping. The patient's Administering Physician should follow the suggested treatment guidelines and comply with all local health authority regulations.
NCT06491927
RGX-202-5101 is a long-term follow up study that evaluates the long-term safety and efficacy of RGX-202 in participants who have received RGX-202 (an investigative gene therapy designed to deliver a transgene for novel microdystrophin that includes functional elements of naturally-occurring dystrophin including the C-Terminal (CT) domain) in a separate parent study.
NCT07429240
The purpose of this Phase 1/2a trial is to evaluate the safety, tolerability, and preliminary efficacy of PBGENE-DMD in patients with DMD harboring mutations amenable to excision of exons 45-55. Given the limitations of existing therapeutic strategies, PBGENE-DMD represents a novel, innovative approach with the potential for a one-time, durable correction of the underlying genetic defect in the largest molecular subset of patients with DMD.
NCT05027269
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.
NCT07037862
This is a study of the investigational medicine ENTR-601-44 in participants who have Duchenne muscular dystrophy (DMD), a rare genetic condition. The researchers want to: Test how safe ENTR-601-44 is, learn about any side effects, and look at the potential positive effects of ENTR-601-44, compared to placebo. Placebo looks like the investigational medicine but does not contain any active ingredient. In this summary ENTR-601-44 and placebo are both called study treatments. The study has 2 parts: * Part A * A Double-Blind Period, to evaluate if ENTR-601-44 is safe and to determine the best dose of ENTR-601-44 for Part B. * Following the Double-Blind period, participants will roll into an open-label treatment period during which the safety and efficacy of extended dosing will be evaluated. * Part B * To further evaluate the effect and safety of ENTR-601-44 at the dose determined in Part A. Participants will: * Receive study treatment in the form of multiple intravenous (IV) infusions (slow injection) into a vein over the course of several weeks in Part A and in Part B * Visit the clinic regularly for checkups and tests such as: blood and urine tests, physical examinations, questionnaires, and exercise tests. Participants will have a muscle biopsy at the beginning of their participation and after their last dose to allow researchers to compare whether there have been changes in the muscle as a result of the study drug. Participants are allowed to continue receiving their standard of care therapy for DMD during the study, as long as their health remains stable.
NCT07209332
This is a Phase 2 open-label extension (OLE) study to evaluate the long-term safety, tolerability, efficacy, pharmacokinetics, and the pharmacodynamics (PD) through potential exploratory biomarker(s) of intravenous (IV) WVE-N531 in patients with DMD who participated in another study of WVE-N531. All patients will have rolled over from a previous study of WVE-N531.
NCT05394506
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.
NCT03368742
This is a controlled, open-label, single-ascending dose study to evaluate the safety and tolerability of SGT-001 in adolescents and children with Duchenne muscular dystrophy (DMD). Participants 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 participants were dosed.