View clinical trials related to Muscular Dystrophies.
Filter by:Test the feasibility of using electrocorticography (ECoG) signals to control complex devices for motor and speech control in adults severely affected by neurological disorders.
Our study is a randomized controlled study and the subjects included in the study will be divided into three groups as virtual reality training, biofeedback training, and conventional rehabilitation.
The purpose of this study is to improve the understanding of the treatment goals that a person with Duchenne Muscular Dystrophy (DMD) or the caregiver may be most interested in, based on the severity of the person's disease. Data will be collected by online survey when the participant accepts the study invitation ("RSVP questionnaire") and telephone interview on the functional burden and self-identified treatment goals from the perspective of people with DMD and their caregivers. Interviews will be analyzed to help identify things important to Duchenne families to measure in clinical trials and to inform the selection of key concepts of interest and development of future clinical outcome measures, including observer reported outcomes/patient reported outcomes. The study will be conducted in the United States and will enroll between 45 and 120 participants 11 years or older living with DMD as well as their caregivers. The time commitment for the online survey and the telephone interview is about one hour. It is anticipated that the entire study will be completed within one year.
The purpose of this extension study is to evaluate the safety, tolerability, and pharmacokinetics of repeat administrations of SRP-5051 (vesleteplirsen) in participants with Duchenne muscular dystrophy (DMD) who participated in studies of SRP-5051.
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.
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.
This study is designed to evaluate the ability of ataluren to increase dystrophin protein levels in muscle cells of participants with nmDMD. The study will evaluate the levels of dystrophin before and after 40 weeks of ataluren therapy using muscle biopsies and 2 validated assay methods, electrochemiluminescence (ECL) and immunohistochemistry.
The primary objective of this study is to evaluate the safety of a 0.9 milligrams per kilogram (mg/kg) and 0.45 mg/kg daily dose of deflazacort with a comparable natural history control group after 52 weeks of treatment in males with DMD aged greater than or equal to (>=) 2 to lesser than (<) 5 years. The study will comprise of 2 periods (Period 1: 52-week safety and pharmacokinetics [PK], and Period 2: 52-week extension). Participants will be randomized in a 1:1 ratio to one of 2 treatment arms: 0.9 mg/kg deflazacort, and 0.45 mg/kg of deflazacort. A historic control group (which should match the study population as closely as possible) will be used as a comparator to characterize the safety and tolerability of deflazacort.
The FTIH study with GSK3439171A will evaluate the safety of GSK3439171A in healthy subjects in order to avoid confounding factors due to the disease or concomitant drugs in patients. The study design is based on pre-clinical findings for GSK3439171A, contributing to the frequency, type and duration of safety assessment and monitoring during treatment periods in each cohort. The single dose assessments in Part A will be conducted to determine safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of the study intervention in individuals before progressing to doses explored further in other parts of the study and will allow for any adjustments needed based on emerging safety, tolerability, and PK information. Part A will also serve to identify a dose for use in examining the effect of food on GSK3439171A exposure in Part C. In Part B, a single dose safety, tolerability and PK will be collected followed by progression of these subjects to the repeat dose portion of the study. The up to 14-day dosing was chosen as it is thought to provide sufficient safety and tolerability data to bridge to longer duration studies. The dosing period can be adjusted depending on PK and PD data collected in Part A of the study. Part B will involve more detailed PK/PD/metabolite assessments to better understand the impact of GSK3439171A on target engagement and metabolism in humans. Approximately 150 subjects will be screened to achieve 75 randomly assigned to study intervention. Duration for Part A, B and C will be approximately 10 weeks, 9 weeks and 8 weeks respectively.
This study will be conducted without blind method. The portable seat device devised to maintain lumbar lordosis will be made within 1 year after the loss of ambulation in the participants with Duchenne muscular dystrophy with prospective design. In the control group, the presence of scoliosis will be calculated 5 years after the loss of ambulation in participants with Duchenne muscular dystrophy through analysis of retrospective medical records who had not been applied the portable seat device.