22 Clinical Trials for Various Conditions
Examining two strategies as potential adjuvant therapies for Duchenne muscular dystrophy (DMD); aerobic exercise training (to induce adaptations in skeletal muscle and improve cardiovascular health) and tadalafil, an FDA-approved vasodilator (to optimize blood flow and muscle perfusion which is impaired and often overlooked in DMD). Target: improved muscle function, vascular health, and DMD treatment.
This is a 24-month, observational study of 50 participants with Becker muscular dystrophy (BMD)
Background: - Muscular dystrophy can affect the muscles used for heart function and breathing. Treatment usually involves drugs that help improve heart function. However, better types of heart imaging studies are needed to improve treatment of heart problems related to muscular dystrophy. Better heart imaging methods are especially needed for children with muscular dystrophy. Researchers want to test different heart imaging methods in children with muscular dystrophy. They will look at cardiac magnetic resonance imaging (MRI) and standard heart function tests. Objectives: - To develop and test new methods for imaging the heart in children with muscular dystrophy. Eligibility: - Children and adolescents between 8 and 17 years of age who have muscular dystrophy. Design: * Participants will be screened with a physical exam and medical history. * Participants will provide a blood sample at the start of the study. They will also have heart function tests before having the imaging study. * Participants will have a cardiac MRI scan that will last up to 60 minutes. Some tests will require a MRI contrast agent (a drug that helps the image appear more clearly on the scan).
This protocol will exploit novel state of the art cardiovascular magnetic resonance techniques to examine important changes in the heart in children with muscular dystrophy. The purpose of this study is to compare cardiac magnetic resonance (CMR) with the collected cardiac outcome data obtained in protocol: PITT1109 - Cardiac Outcome Measures in Children with Muscular Dystrophy.
The purpose of the research study is to evaluate different cardiac measures that are obtained by echocardiographic tests in patients with muscular dystrophy.
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.
Background: - Children with Duchenne/Becker Muscular Dystrophy (DBMD) slowly lose muscle function. They usually die at a young age. Some mothers adapt to the demands of caring for a child with this disease better than others. Studies show that a person s hope may positively affect how they cope and adapt. Researchers want to find out more about this. They want to develop ways to improve caregivers overall wellness. Objective: - To study the relationships between uncertainty, hope, and coping ability in mothers of children with DBMD. Eligibility: - Women in the United States 18 years and older. They must be biological mothers of a living child with DBMD and be able to answer a survey in English. Design: * This study is part of a larger study that examines the well-being of mothers with sons who have DBMD. * Participants will take a questionnaire. The questionnaire can be done on paper or on a computer. It will take 30 45 minutes to complete. * The questionnaire will include basic demographic questions about the participant and the child. There will also be questions about how the participant copes with the stress and uncertainty of DBMD. * For most of the questions, participants will rate their feelings on a scale. There will also be four open-ended questions.
This research study includes children ages 5 to 20 years old with Collagen Type 6 Congenital Muscular Dystrophy or Laminin α2-related muscular dystrophy (LAMA2-MD). The goal of this study is to measure the effect of breathing exercise to stretch the chest in slowing the loss of breathing function. The breathing stretches are done with a machine called Cough Assist®. The study is being done at Cincinnati Children's Hospital Medical Center and Children's Hospital of Philadelphia. The study involves traveling to one of these 2 centers for 4 visits over 13 months. The study also includes 3 sets of phone visits called Daily Phone Diaries. Participants will be "randomized" into one of 2 study groups in a 1:1 ratio. The treatment group will use the Cough Assist® machine twice a day for 15 minutes. The control group will continue with their current daily care. The Cough Assist® is a machine that blows air into the lungs (insufflation) and helps pull air out of the lungs. The investigators will be blowing enough air into the lungs to cause a stretch to the chest. This is called hyperinsufflation. Study visits will last about 5 to 6 hours and will include medical and quality of life questionnaires and pulmonary function tests to determine lung function and the individualized settings to be prescribed for the Cough Assist®.
The FOX study is a 2-part, multicenter, Phase 2 study of safety, pharmacokinetics, and biomarkers in children and adolescents with Duchenne muscular dystrophy previously treated with gene therapy including a randomized, double-blind, placebo-controlled Part A, followed by an open-label part B.
People with cerebral palsy (CP), muscular dystrophy (MD), spina bifida, or spinal cord injury often have muscle weakness, and problems moving their arms and legs. The NIH designed a new brace device, called an exoskeleton, that is worn on the legs and helps people walk. This study is investigating new ways the exoskeleton can be used in multiple settings while performing different walking or movement tasks, which we call ubiquitous use. For example, we will ask you to walk on a treadmill at different speeds, walk up and down a ramp, or walk through an obstacle course. Optionally, the exoskeletons may also use functional electrical stimulation (FES), a system that sends electrical pulses to the muscle to help it move the limb.
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....
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). 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. Participants currently enrolling are assigned to active treatment. Control participants enrolled under original protocol will continue through the study per the original protocol.
The expanded access program will provide access to treatment with deflazacort in children, adolescent, and adult patients with DMD in the U.S. who are ineligible, unable, or otherwise unwilling to enroll in a clinical study examining the efficacy of deflazacort while a new drug application is under preparation and review. Enrollment is open to all eligible patients.
Children with neuromuscular disabilities and limited ambulation are at significant risk for decreased bone mineral density (BMD) and increased incidence of fracture. This is caused, in part, by low levels of load experienced by the skeleton due to a child's functional limitations. Low BMD has been shown to be predictive of fracture, and in fact, fractures usually occur without significant trauma in children with neuromuscular conditions. The discomfort and distress from fractures in this population are considerable, and the associated costs to the family and healthcare system are substantial. Numerous interventions have been devoted to improving BMD in these children. Stationary assisted standing devices are widely used and represent the standard-of-care. However, evidence supporting this approach is limited due to inadequate study designs with insufficient numbers of patients. This study will use load-sensing platforms in patients with neuromuscular conditions. Successful completion of this pilot study will assist in the development of a future multicenter clinical trial to definitively determine relationships, if any, between passive standing and measures of BMD, fracture incidence, pulmonary function, and health-related quality-of-life measures in children with a variety of neuromuscular disabilities (e.g., spinal muscular atrophy, cerebral palsy, muscular dystrophy, spina bifida, Rett syndrome). Hypothesis: Assisted standing treatment program will gradually increase their duration of standing by up to 75% after the baseline phase.
Non-ambulatory children with a neuromuscular disability such as spinal muscular atrophy (SMA) are at significant risk for poor bone health as defined by low bone mineral density (BMD) and increased propensity to fracture. Poor bone health is thought to be related, at least in part, to abnormally low levels of load experienced by the skeleton. A common physical approach for increasing bone density is to stimulate the musculoskeletal system by increasing the amount and duration of weight-bearing in the lower extremities. For non-ambulatory individuals, this takes the form of using an assisted standing device to enable the child to spend time in a standing position with some degree of weight placed on the lower limbs. Some of these physical interventions demonstrate variable improvement in BMD in children with neuromuscular conditions, and some do not. A serious limitation in the previous work in this area is a failure to objectively measure the magnitude and duration of the loading experienced by the lower extremities. Thus, a lack of change in BMD may be due to the extremities experiencing only a fraction of the body weight (due to load-sharing with the assistive device) for an inadequate duration of standing time. In order to investigate the efficacy of standing treatment for increasing BMD, the investigators will develop a simple, portable and inexpensive transducer that will measure the magnitude and time course of the load experienced by the lower extremities of individuals with SMA who use a stationary assisted standing device. The specific goal of this proposed project will be to develop, validate and establish the initial feasibility of such a measurement device.
The purpose of this protocol is to perform Electrical Impedance Myography (EIM) testing on healthy children and children with duchenne muscular dystrophy so as to develop a new, convenient tool for the office based assessment of children with a wide variety of neuromuscular conditions.
Study to characterize the single-state and steady-state dosing of oral deflazacort in pediatric and adolescents subjects.
While it has been known for many years that corticosteroid use benefits boys with Duchenne Muscular dystrophy (DMD), most clinicians do not consider treating until after age 3 or 4 years of age. The primary reason for the delay is that daily corticosteroid use has many side effects including short stature, obesity, and osteoporosis. A recent randomized blinded study of weekend oral corticosteroid use over one year showed equal improvement in strength with fewer side effects, particularly as related to growth and cushingoid changes. The investigators will test the efficacy of oral weekend corticosteroid use in infants and young boys with DMD who are under age 30 months. The investigators have demonstrated that the Bayley-III Scales of Infant development shows that infants and young boys in this age group who are untreated decline in abilities when compared to their peers. Here, in this Phase 2 historically controlled trial, the investigators will use these two measures and treat boys at five Muscular Dystrophy Association-DMD centers
Background: - Cerebral palsy (CP) is the most common motor disorder in children. CP often causes crouch gait, an abnormal way of walking. Knee crouch has many causes, so no single device or approach works best for everybody. This study s adjustable brace provides many types of walking assistance. Researchers will evaluate brace options to find the best solution for each participant, and whether one solution works best for the group. Objective: - To evaluate a new brace to improve crouch gait in children with CP. Eligibility: * Children 5 17 years old with CP. * Healthy volunteers 5 17 years old. Design: * All participants will be screened with medical history and physical exam. * Healthy volunteers will have 1 visit. They will do motion analysis, EMG, and EEG described below. * Participants with CP will have 6 visits. * Visit 1: \<TAB\>1. Motion analysis: Balls will be taped to participants skin. This helps cameras follow their movement. \<TAB\>2. EMG: Metal discs will be taped to participants skin. They measure electrical muscle activity. \<TAB\>3. Participants knee movement will be tested. \<TAB\>4. Participants will walk 50 meters. \<TAB\>5. Participants legs will be cast to make custom braces. * Visit 2: * Participants will wear their new braces and have them adjusted. * Steps 1 3 will be repeated. * EEG: Small metal discs will be placed on the participants scalp. They record brain waves. * Participants will have electrical stimulation of their knees and practice extending them. * Participants will take several walks with the braces in different settings. * Visits 3 5: participants will repeat the walking and some other steps from visit 2. * Visit 6 will repeat visit 2.
The purpose of the study is to establish the pharmacokinetic profile of omigapil in paediatric and adolescent patients with CMD and to evaluate the safety and tolerability of omigapil. Funding source - FDA OOPD
Limb girdle muscular dystrophy type 2D (LGMD2D) is a genetic disease that affects skeletal muscle. Insufficient levels of the protein alpha-sarcoglycan result in muscle weakness that worsens over time. The purpose of this study is to evaluate the safety and effectiveness of gene therapy in treating children and adults with LGMD2D.
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes for infants with suspected developmental delays. Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of life and their parents/caregivers. The intervention, called the Parent and Infant Inter(X)action Intervention (PIXI) is a comprehensive program inclusive of parent education about early infant development and the neurogenetic disorder for which they were diagnosed, direct parent coaching around parent-child interaction, and family/parent well-being support. The protocol includes repeated comprehensive assessments of family and child functioning, along with an examination of feasibility and acceptability of the program.