508 Clinical Trials for Various Conditions
The purpose of this study is to measure the safety, tolerability, PK, and PD of AZD5492 administered subcutaneously in adult participants with SLE or IIM. Study details include: • The study duration will be a minimum of 180 days in addition to the screening period. Additional follow-up visits may be required up to 12 months from study start. * Depending on the study part they are assigned to, participants will be administered AZD5492 once (Part 1) or twice (Part 2). * Study visits will occur at: Screening, Days 1-4, 8, 15, 22, 30, 60, 90, 120, 150, and 180 in Part 1, Screening, Days 1-4, 8-11, 15, 22, 29, 43, 60, 90, 120, 150, and 180 in Part 2.
XLMTM (X-linked myotubular myopathy) is a serious genetic muscle condition. It is caused by changes in the MTM1 gene which stops or slows down normal muscle development, causing severe muscle weakness. There is currently no cure for XLMTM. Ongoing care is needed to manage symptoms and prevent further medical problems from this condition. Recent research shows that individuals with XLMTM often have reduced bile flow which can affect liver and gallbladder health. Bile is a liquid made in the liver that helps digest fat. Ongoing liver health checks may help with the routine care of people with XLMTM. There is a need to understand liver problems that develop in individuals with XLMTM over time. The main aim of the study is to learn how many boys with XLMTM have new cases of liver problems during the study. This study is about collecting information only. This is known as an observational study. The individual's doctor decides on treatment, not the study sponsor (Astellas). In this study, boys under 18 diagnosed with XLMTM will be followed for about 1 year. The health of their liver and gallbladder will be checked about every 6 weeks. This can be done at home, if preferred. A scan called a Fibroscan (also known as transient elastography) will check for signs of scarring in the liver (fibrosis) and the build-up of lipids. It is suggested that each boy will have a Fibroscan when they start the study and another scan when they complete the study. This study will help understand liver, gallbladder, and bile duct issues in individuals with XLMTM over time. The goal is to improve their care and provide information to use in future clinical studies.
WiTNNess is designed to accurately document the natural course and variation of muscle disease caused by pathogenic changes of the TNNT1 gene. The primary aim of the study is to specify meaningful outcome measures for future clinical trials. WiTNNess is open to children and adults worldwide. Participants can choose to include their information once (cross-sectional cohort) or every few months (prospective cohort).
Objective: To collect information and biospecimens (such as blood, muscle, and skin samples) that will be used to research causes and treatments of inflammatory muscle diseases. Eligibility: People aged 12 years and older with suspected or confirmed inflammatory muscle disease. Healthy volunteers aged 18 years and older are also needed. Design: Participants will have at least 1 clinic visit. Each visit will last 4 to 8 hours. Some may return for additional visits. All participants will undergo these procedures (unless they are unable to): * Physical exam, including blood and urine tests. * Magnetic resonance imaging (MRI) scan of the thigh. Participants will lie still on a table with padding around 1 thigh. The table will slide into a tube. The scan will last for approximately 40 minutes. Some procedures are optional: * Muscle biopsy. An area of skin will be numbed. A quarter-inch cut will be made. Several pieces of muscle tissue, about the size of grains of rice, will be removed. * Skin biopsy. An area of skin will be numbed. A piece of skin about a quarter inch in diameter will be removed. * Genetic testing. Some of the samples collected may be used for genetic testing.
The goal of this observational study is to develop and validate tools to measure disease course in patients with primary mitochondrial myopathy (PMM). The main aims of this study are: * Development, validation, and optimization of objective outcome measures for mitochondrial myopathy * Defining the natural history of mitochondrial myopathy Researchers will compare data from patients with primary mitochondrial myopathy to healthy controls. Data from healthy controls will also help define normative data for future studies. Participants will perform clinical exams of muscle strength and endurance and will complete surveys.
X-Linked myotubular myopathy (XLMTM), a form of centronuclear myopathy (CNM) is the result of a mutation in the MTM1 (myotubularin) gene which leads to altered myotubularin. Myotubularin is essential for optimum muscle function. To date, over 100 mutations have been described resulting in a range of disease onset and symptom severity. The early onset form presents with neonatal hypotonia, muscle weakness, respiratory distress and an ongoing requirement for continuous ventilatory support with the inability to maintain a sitting position once placed. Males with both later onset and milder symptoms usually do not require ongoing ventilatory support, achieve a higher maximal motor function with ability to sit when placed and even walk, and have improved survival rates. Males with XLMTM may experience complications (events) at birth and throughout their lifetime. The goal of the study is to identify the number of events over twelve months in males with genetically confirmed XLMTM. Parents or affected individuals over the age of 18 years who are able to access telephone will provide answers to an established event survey to evaluate the frequency and types of events. Emergency department, hospital admissions and mortality will be confirmed by obtaining medical reports. The investigators hypothesize that there will be no association between the frequency of events and markers of clinical severity including the need for ventilatory support at birth, current level of ventilatory support (no support, support less than 12 hours, support more than 12 hours) and current motor function (walking, sitting without support, inability to sit without support).
Background: - Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known. Also, doctors do not fully understand how symptoms of these disorders change over time. Researchers want to learn more about genetic nerve and muscle disorders that start in childhood by studying affected people and their family members, as well as healthy volunteers. Objectives: - To better understand nerve and muscle disorders that start early in life and run in families. Eligibility: * Individuals at least 4 weeks old with childhood-onset muscular and nerve disorders, including those who have a later onset of a disorder that typically has childhood onset. * Affected and unaffected family members of the individuals with muscular and nerve disorders. * Healthy volunteers at least 4 weeks old with no nerve or muscle disorders. Design: * Participants will be screened with a physical exam and medical history. Genetic information will be collected from blood, saliva, cheek swab, or skin samples. Urine samples may also be collected. * Healthy volunteers and unaffected family members will have imaging studies of the muscles. These studies will include magnetic resonance imaging (MRI) and ultrasound scans. Results will be compared with those from the affected participants. * All participants with nerve and muscle disorders will have multiple tests, including the following: * Imaging studies of the muscles, including ultrasound and MRI scans. * Imaging studies of the bones, such as x-rays and DEXA scans. * Heart and lung function tests. * Eye exams. * Nerve and muscle electrical activity tests and biopsies. * Video and photo image collection of affected muscles. * Speech, language, and swallowing evaluation. * Lumbar puncture to collect spinal fluid for study. * Tests of movement, attention, thinking, and coordination. * Participants with nerve and muscle disorders will return to the Clinical Center every year. They will repeat the tests and studies at these visits.
The investigators laboratory has been studying families with a history of ALS for more than 30 years and is continuing to use new ways to understand how genes may play a role in ALS, motor neuron disease and other neuromuscular disorders. The purpose of this study is to identify additional genes that may cause or put a person at risk for either familial ALS (meaning 2 or more people in a family who have had ALS), sporadic ALS, or other forms of motor neuron disease in the hopes of improving diagnosis and treatment. As new genes are found that may be linked to ALS in families or individuals, the investigators can then further study how that gene may be contributing to the disease by studying it down to the protein and molecular level. This includes all forms of ALS, motor neuron disease and ALS with fronto-temporal dementia(ALS/FTD). We also continue to study other forms of neuromuscular disease such as Miyoshi myopathy, FSH dystrophy and other forms of muscular dystrophy by looking at the genes that may be associated with them. There have been a number of genes identified that are associated with both familial and sporadic ALS, with the SOD1, C9orf72, and FUS genes explaining the majority of the cases. However, for about 25% of families with FALS, the gene(s) are still unknown. The investigators also will continue to work with families already identified to carry one of the known genes associated with ALS.
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required. The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual. Registering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries. Study hypothesis: 1. To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases. 2. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.
The researcher wants to explore the genetic causes of muscle disease. The researcher is particularly interested in muscle disorders that occur in combination with diseases of bone that appear to be passed on from generation to generation. Diffuse Optical Spectroscopy will measure the concentrations of blood, water, and lipids (fats, for example) in your tissues. This device essentially measures the color of tissues in order to determine tissue physiology (its physical and chemical processes).
With the great economic costs and traditionally poor outcomes among chronic temporomandibular joint and muscle disorder (TMJMD) patients, it has become important to treat patients in the acute state, in order to prevent these more chronic disability problems. This has been the goal of two past funded grant projects. Results of the initial project isolated risk factors that successfully predicted the development of chronicity with a 91% accuracy rate. A statistical algorithm was developed which was used in the second project to screen out "high-risk" patients. These patients were then randomly assigned an early intervention or non-intervention group. One-year follow-up evaluations documented the treatment efficacy and cost effectiveness of early intervention. These results have major implications for effective early intervention and significant health care cost savings for this prevalent pain and disability problem. For the present proposed project, we plan to implement this treatment program in order to evaluate its effectiveness in more community-based dental practices. This is in response to NIH's request for the implementation of evidence-based treatment approaches, developed in controlled clinical settings, to the "real world" of diverse practices in the community. Acute TMJMD patients will be recruited from two community-based clinics. Based upon our "risk" screening algorithm, high-risk patients will be randomly assigned to one of two groups (n=225/group): an early biobehavioral intervention or an attention-control group. It is hypothesized that the attention control "high-risk" patients will display more chronic TMJMD problems, relative to the "high-risk" early intervention patients, at one- and two-year follow-ups. A number of biopsychosocial measures will be evaluated, including chewing performance, the RDC/TMD, self-reported pain and stress, etc. Such a multi-level, multi-systems approach has not been applied to better understand the biopsychosocial underpinnings of TMJMD. Results from this component of the project will greatly aid in stimulating future research leading to the better understanding of TMJMD, as well as better tailoring of prescribed treatment regimens.
Mitochondrial myopathies include various inherited diseases that are caused by damage to the mitochondria, energy-producing structures that fuel the body's processes. The main symptoms are muscle weakness, reduced muscle mass, and difficulty with exercising. The purpose of this study is to determine the effects of exercise training versus inactivity on mitochondrial function in muscle and muscle performance in people with mitochondrial myopathies.
In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth), including central core disease, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1), RYR1 myopathy, ADSS1 (ADSSL) Myopathy and undefined congenital myopathies. The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future. For more information, visit the Laboratory Website at www.childrenshospital.org/research/beggs
There is a significant proportion of patients complaining of muscle symptoms while on statin therapy who have a measurable difference in muscle strength or endurance and whose muscle biopsies are diagnostic for myopathy.
The purposes of this study are to identify gene mutations in patients with the muscle diseases phosphofructokinase (PFK) deficiency, acid maltase deficiency (GAA deficiency) and to learn more about how these diseases develop. PFK deficiency is a mild, exercise-related illness. The childhood form of GAA deficiency (Pompe disease) affects the heart and liver and is rapidly fatal. The adult form begins in midlife and involves degeneration of skeletal muscles, leading to weakness and muscle wasting. The following groups of individuals may be eligible for this study: Group A: Patients with PFK deficiency, acid maltase deficiency, and relatives who also are affected. Participants in this group will undergo a brief medical and family history, blood sample collection, and possibly a physical examination, review of medical records, and interview with the patient's physician. Group B: Unaffected family members of patients in group A, including both blood relatives and spouses. People in this group may be asked to provide a history and genetic information. A review of medical records, interview with the individual's physician, and blood sample may also be requested. Group C: Control subjects. This group will provide a small blood sample or buccal mucosal sample (tissue sample collected by brushing the inside of the cheek). The samples will be coded and the investigators will not know the participants' identities. DNA from these samples will be analyzed for frequency of gene mutations. Genetic counseling will be arranged for patients, as appropriate.
This study of inflammatory muscle diseases-polymyositis and dermatomyositis and related disorders-will examine what causes these diseases and describe the clinical features (signs and symptoms) associated with them. Inflammation and degeneration of skeletal muscles in these disorders leads to weakness and muscle wasting. The skin, lungs and other organs may also be involved. Patients 16 years of age and older with polymyositis, dermatomyositis, or a related disorder may be eligible for this study. Participants will undergo a complete history and physical examination, including routine blood and urine tests. Additional procedures for diagnosis, treatment or research may include: 1. Blood sample for genetic studies. 2. Muscle biopsy-removal of a tissue sample for microscopic examination. Under local anesthetic, a 1/2- to 1-inch long incision is made in the thigh or upper arm, and a small piece of muscle is removed. 3. Electromyography-measurement of the electrical activity of a muscle. A needle is inserted through the skin into a muscle to record its electrical activity. 4. Magnetic resonance imaging-visualization of organs or tissues, using a magnetic field and radio waves. The patient lies on a table inside a narrow cylinder (the MRI scanner) with a strong magnetic field for the scanning. 5. Manual muscle strength testing by a physiotherapist. 6. Swallowing studies using ultrasound (imaging using sound waves) and X-rays (barium swallow) to evaluate swallowing and speaking abilities. 7. Questionnaires on swallowing ability and ability to perform daily living activities 8. Pulmonary function tests-measurement of movement of air in and out of the lungs. The patient breathes into a machine to evaluate lung function. 9. Chest X-rays to evaluate lung function. 10. Electrocardiogram and, if necessary, Holter monitoring (measurement of the electrical activity of the heart) and echocardiogram (ultrasound imaging of the heart) to evaluate heart function. 11. Apheresis-collection of white blood cells for research. Whole blood is collected through a needle placed in an arm vein. The blood circulates through a machine that separates it into its components. The white cells are removed and the rest of the blood is returned to the body through the same needle or through a second one placed in the other arm. 12. MR guided muscle biopsy-measurement of glycogen in muscle tissue using magnetic resonance imaging. Certain patients may undergo this experimental procedure to compare MRI findings with those of muscle biopsy. The affected muscles are identified using MRI and the biopsy incision is made. MRI is then used to guide the biopsy needle to the muscle and a small piece is removed. Patients who are eligible for experimental treatment studies will be offered the opportunity to join them. Others will be advised of treatment recommendations.
The goal of this study is to establish a research network to help define the natural disease history and clinical outcome measures for Nemaline Myopathy (NM).
RESET-Myositis: Open-Label Study to Evaluate the Safety and Efficacy of CABA-201 in Subjects with Active Idiopathic Inflammatory Myopathy or Juvenile Idiopathic Inflammatory Myopathy
To evaluate the progression of atrial myopathy through wearable devices and cardiac imaging.
The purpose of this study is to evaluate the dose response of ASP0367 on functional improvement relative to placebo, safety, and tolerability in participants with Primary Mitochondrial Myopathy.
This trial investigates the changes in physical and functional tests over time in patients with suspected acute graft versus host disease (from a hematologic stem cell transplant) who started treatment with corticosteroids. Sometimes the transplanted cells from a donor can attack the body's normal cells (called graft-versus-host disease). Steroids are used to treat suspected graft-versus-host disease. Steroid myopathy (muscle weakness and fatigue) is a significant side effect of high dose steroid therapy, and can impair activities of daily of life. The goal of this trial is to learn how patients' physical activities and functions change over time while on GVHD-steroid treatment.
Past mitochondrial disease treatment studies have been unsuccessful in determining treatment efficacy, and a major factor has been the lack of validated biomarkers in mitochondrial myopathy (MM). There is currently a growing number of potential new treatments to be tested through MM clinical intervention trials, which has created a pressing need for quantitative biomarkers that reliably reflect MM disease severity, progression, and therapeutic response. The purpose of the study is to measure the efficacy of an electrochemical oxygen nanosensor to measure in vivo mitochondrial function in human muscle tissue, and its ability to discriminate MM patients from healthy volunteers. The data and results from this nanosensor study may contribute to current and future research, including improved diagnostic and therapeutic approaches for patients with mitochondrial disease.
This is a multicenter phase 3 randomized, double-blind, parallel-group, placebo-controlled trial to evaluate the safety and efficacy of daily subcutaneous injections of elamipretide in subjects with primary mitochondrial myopathy. This will be followed by an open-label treatment extension.
This is a Phase 2 Open-Label extension study to evaluate the long term safety and tolerability of daily elamipretide injections in patients with genetically confirmed Primary Mitochondrial Disease who previously participated in the SPIMM-202 Clinical Trial
Trial to Evaluate the Efficacy and Safety of Abatacept subcutaneous (SC) in Combination With Standard Therapy Compared to Standard Therapy Alone in Improving Disease Activity in Adults With Active Idiopathic Inflammatory Myopathy
This study is a longitudinal study evaluating the severity and progression of respiratory muscle function in patients with X-Linked Myotubular Myopathy (XLMTM) aged 0-14.
Phase 1/2, multi-center, randomized, double-blind, multiple ascending dose, placebo-controlled study that enrolled 36 subjects with mitochondrial myopathy associated with genetically confirmed mitochondrial disease to evaluate the safety, tolerability, pharmacokinetics (PK), and preliminary efficacy of MTP-131 in this patient population.
Background: - Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common non-dystrophic muscle diseases that people are born with in the U.S. They affect development, muscles, and walking. Researchers want to test a new drug to help people with these diseases. Objectives: - To see if the drug N-acetylcysteine decreases muscle damage in people with RYR1-RM. To see if it improves their exercise tolerance. Eligibility: - People age 7 and older with a confirmed genetic diagnosis of RYR1 or a clinical diagnosis of RYR1 and a family member with a confirmed genetic diagnosis. Design: * Participants will be screened with a checklist of criteria. Adult participants may have a muscle biopsy. A needle will remove a tiny piece of muscle in the lower leg. * Study visits will take several days. * Visit 1: * Medical history * Physical exam * Blood, urine, and saliva tests * Questions about symptoms and quality of life * Heart, lung, and walking tests * Muscle Oxygenation Capacity Test. A blood pressure cuff around the thigh will be tightened for up to 10 minutes. * Biodex testing, stretching the leg against resistance * Muscle ultrasounds. A probe will be moved over the skin. * Participants may be photographed or videotaped during procedures. * They may have a muscle biopsy. * Six months later, visit 2 will repeat visit 1. Participants will start taking the study drug dissolved in water or placebo three times a day for 6 months. * Participants will stay at NIH for 2 days after starting the study drug. * Participants will be contacted by phone during the study to monitor side effects * Six months after starting the study drug, study visit 3 will repeat some or all of visit 1.
This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe. The duration of the study, including the enrollment period, will be 36 months. Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies.
HIBM is a severe progressive myopathy that typically presents in early adulthood as weakness in the distal muscles of the lower extremities and progresses proximally, leading to a loss of muscle strength and function, and ultimately a wheelchair-bound state. The rate of progression is gradual and variable over the course of 10-20 years or longer. There is a need to better understand the disease-specific features of HIBM to heighten disease awareness; facilitate early diagnosis; identify patients; expand knowledge of the clinical presentation, progression and variation of the disease; identify and validate biomarkers and other efficacy measures; inform on the design and interpretation of clinical studies of investigational products; and eventually to optimize patient management.