View clinical trials related to Duchenne Muscular Dystrophy.
Filter by:Muscular dystrophies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and genetic basis of these disorders; early diagnosis is achievable with proper clinical recognition and advanced genetic testing .Duchenne Muscular Dystrophy (DMD) is a neuromuscular muscular X-linked recessive disorders that belong to a group of disorders known as dystrophinopathies. DMD characterized by a progressive degeneration of skeletal muscles, with symptoms that manifest early, at around 3 years, causing loss of ambulation within the 13 years of life, followed by cardiac complication (e.g., dilated cardiomyopathy and arrhythmia) and respiratory disorders, including chronic respiratory failure. The unique medical treatment available is steroid therapy, which appears to prolong walking capacity by at least two years. Thus, besides medical treatment, the physical therapy in multidisciplinary care is imperative for alleviating muscle atrophy, skeletal deformities, and motor function deterioration.
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.
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.
CureDuchenne link is a data hub comprised of integrated biospecimens, clinical data, and self- and/or caregiver-reported information from participants. Anyone over 4 weeks old who has been diagnosed with DMD or BMD or who is a carrier of DMD or BMD can join. Parents or legal guardians can sign up their child(ren).
This is a phase II, open-label study where weekly doses of 80 mg/kg viltolarsen is administered intravenously over a 48-week treatment period to ambulant and non-ambulant DMD patients over the age of 8 years.
This is a Phase 1b/2a open-label study to evaluate the safety, tolerability, pharmacokinetic (PK), pharmacodynamic (PD), and clinical effects of intravenous (IV) WVE-N531 in patients with Duchenne muscular dystrophy (DMD). To participate in the study, patients must have a documented mutation of the DMD gene that is amenable to exon 53 skipping intervention. This study has 2 parts, Part A and Part B. Part A is complete.
The aim of this study is to investigate the effect of a telerehabilitation approach to patients with Duchenne Muscular Dystrophy and evaluate patients' motor function, parents' anxiety and depression levels before and after the intervention
This is a Phase 3, multi-center, open-label extension study in ambulant boys with DMD who have completed the 48-week treatment period of either viltolarsen or placebo in Study NS-065/NCNP-01-301.
A cross-sectional study was carried out, in which 40 boys, aged 11 to 18 years, were evaluated. The recruitment of groups was carried out at the neuromuscular disease outpatient clinic of the Federal University of São Paulo (UNIFESP). The recruited individuals were divided into 4 groups, namely: DMD that used deflazacort (DMD-D); DMD that used Prednisone/Prednisolone (DMD-P); DMD Control with no corticoid use (DMD-C) and Controls with typical development (CTD). The protocol was applied during the evaluation that was carried out at outpatient follow-up visits. To assess the functionality of each patient, the Vignos scales were used to characterize the sample and the Motor Function Measure (MFM) for association with HRV indices. All heart rate records were performed using a cardiofrequencymeter (V800, Polar). After placing the brace and monitor, the individuals were placed in the supine position and remained at rest spontaneously breathing for 25 minutes. For HRV analysis, indexes obtained by linear methods, in the domain of time and frequency, and non-linear methods were used.
This is an open-label study to evaluate the safety and tolerability of golodirsen injection in Non-ambulant DMD patients with confirmed genetic mutations amenable to treatment by exon 53 skipping (Golodirsen). Golodirsen 30 mg/kg will be administered as an intravenous (IV) infusion over approximately 35 to 60 minutes once a week during the treatment period (up to 96 weeks). After the treatment period, patients can go into a safety extension period (not to exceed 48 weeks) until the patient is able to transition to commercially available drug or a separate golodirsen study. Safety will be regularly assessed throughout the study via the collection of adverse events (AEs), laboratory tests, electrocardiograms (ECGs), echocardiograms (ECHOs), vital signs, and physical examinations. Exploratory assessments, including pulmonary function tests (PFTs), upper extremity testing, and other measurements of functional status, will occur at functional assessment visits every 12 weeks over the first year of treatment and approximately every 24 weeks over the second year of treatment.