Clinical Research Directory

Long-Term Extension Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon Skipping to Evaluate the Safety and Efficacy of Endosomal Escape Vehicle Phosphorodiamidate Morpholino Oligomer Platform Products (ELEVATE-LTE)

This is a study of investigational medicines ENTR-601-44 and ENTR-601-45 designed to evaluate the long-term safety and tolerability of study drugs in participants with Duchenne muscular dystrophy (DMD). The investigational medicines are currently being investigated in multiple ascending dose parent studies. After participants complete their respective parent study, there is a need to understand the effects of long-term administration of ENTR-601-44 and ENTR-601-45. Participants enrolling in this study will begin this long-term extension (LTE) study at the dose level they received upon completion of the parent study with possible dose escalation in the LTE study based on emerging safety and efficacy data from the parent studies. Participants will: * Receive study treatment in the form of multiple intravenous (IV) infusions (slow injections) into a vein over the course of several weeks * Visit the clinic regularly for checkups and tests such as: blood and urine tests, physical examinations, questionnaires, and excersice 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 results 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.

Sodium/Glucose Cotransporter-2 Inhibitors (SGLT2i) Therapy in Duchenne Cardiomyopathy

This is a pharmacokinetic study (PK Study) to better understand empagliflozin dosing in pediatric Duchenne muscular dystrophy patients. Empagliflozin is currently used off-label in this population due to the mortality benefits seen in adult cardiomyopathy and heart failure. Investigators will perform PK studies in DMD patients of various ages and weights to better understand the PK profile (absorption, distribution, metabolism, excretion) and dosing to better treat Duchenne cardiomyopathy.

Digital Monitoring of Upper Limb Function in Non-Ambulant DMD

Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder caused by the absence of dystrophin, leading to progressive muscle degeneration. Symptoms typically begin in early childhood and result in loss of ambulation by early adolescence, followed by cardiorespiratory complications. Although early treatment, including corticosteroids and emerging therapies, can slow disease progression, sensitive tools to monitor functional decline-particularly in non-ambulant patients-remain limited. Current assessments rely primarily on clinical scales and hospital-based evaluations, which may not detect subtle changes or reflect real-life function. Digital outcome measures derived from wearable sensors offer a promising approach for continuous, objective monitoring in daily life. This study aims to evaluate the feasibility, reliability, clinical validity, and sensitivity of digital measures to assess upper limb function in non-ambulant patients with genetically confirmed DMD. The Syde device, previously validated in ambulant DMD patients, will be investigated for its applicability in this population.

Glucagon-Like Peptide-1 Receptor Agonists to Attenuate Metabolic Risk in Individuals With Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy (DMD) is a rare, genetic disease that leads to muscle weakness, breathing difficulties, heart disease, and early death. Approximately half of individuals with DMD have elevated body mass indices (BMIs) in the overweight or obesity range. High BMI is due to a combination of factors including limited mobility and steroid medications, which are used to treat DMD. There are new medications, glucagon-like peptide-1 receptor agonists (GLP-1 RAs) that promote weight loss in the general population. GLP-1 RAs are approved for weight loss in children and adults and have beneficial effects on the heart. There is a concern that these medications could have unwanted side effects in individuals with DMD, specifically decreasing their muscle mass. While it is important to consider the use weight-loss medications in DMD, the investigators want to ensure that they are safe and well-tolerated. Therefore, this study will systematically evaluate whether the use of GLP-1 RAs in adolescents and young adults with DMD affects muscle mass. The overall goal of this study is to assess the safety and tolerability of GLP1-RAs in individuals with both DMD and obesity. The primary focus will be on muscle health, but the study will also evaluate activity levels, mood, gastrointestinal symptoms, and quality of life. Secondary goals will be to understand the impact of GLP1-RAs on weight, fat mass, glucose and insulin levels, and heart and lung function in individuals with DMD. The investigators hypothesize that GLP1-RAs will be well-tolerated and will decrease fat mass, without a large decrease in muscle mass. Participants will: * Take oral semaglutide or a placebo every day for 24 weeks (randomized controlled trial) * Then take oral semaglutide every day for 40 weeks (open label extension) * Complete in-person study visits at 3 timepoints * Study visits may include: an MRI of the body to evaluate muscle and fat tissue, laboratory testing, a mixed meal tolerance test, questionnaires, an MRI of the heart, pulmonary function tests, and additional measures * Calls with the study team between visits (monthly or every other month)

A Remote Study Using Technology to Assess Outcomes in DMD

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.

Efficacy, Safety, and Tolerability of Zeleciment Rostudirsen (DYNE-251) Administered Intravenously Every 4 Weeks in Ambulatory Participants With Duchenne Muscular Dystrophy (FORZETTO)

The purpose of the study is to assess the efficacy, safety, and tolerability of zeleciment rostudirsen (DYNE-251) administered intravenously (IV) every 4 weeks to ambulatory Duchenne muscular dystrophy (DMD) participants, 4 to 18 years of age, with dystrophin mutations amenable to exon 51 skipping.

Duchenne Electronic Health Record Study

This study aims to collect retrospective and prospective, long-term data of patients with dystrophinopathy (including Duchenne, Becker, and female carriers) through electronic transfer. At select clinics across the United States, electronic health record (EHR) data from consented patients will be pushed into PPMD's Duchenne Outcomes Research Interchange (the Interchange), where the EHR data can be combined with patient-reported data from The Duchenne Registry. By combining this data in a central hub, we will gain a more complete picture of Duchenne and Becker muscular dystrophy, allowing researchers and clinicians to develop treatments faster and to improve and refine the standards of care for Duchenne and Becker. The ultimate goal is to optimize function, quality of life, and survival of Duchenne and Becker patients. EHR data collected will be fully identifiable retrospective data for core clinical data elements going back ten years (as available) from the date of consent; going back one year for retrospective clinical notes from the date of consent; and prospectively collecting both core clinical data elements and clinical notes. Information collected will align with the FHIR U.S. core data elements, also known as the Common Clinical Data Set. PPMD partnered with Prometheus Research (an IQVIA company), an industry leader in health data informatics, to launch both the EHR Study and the Interchange. All data is stored securely and in accordance with strict industry standards and patient privacy laws. Participation in the EHR data extraction is voluntary, and a patient can withdraw consent at any time.

The Effect of Virtual Reality Applications on Upper Extremity Functions in Patients With Duchenne Muscular Dystrophy

This study aims to evaluate the effects of fully immersive virtual reality (VR) applications on upper extremity (UE) functions in individuals diagnosed with Duchenne Muscular Dystrophy (DMD). DMD is a progressive neuromuscular disorder that leads to muscle weakness and loss of function, including the upper limbs, which are essential for daily activities and independence. In this randomized controlled trial, 36 participants with DMD will be divided into two groups: a control group receiving conventional physiotherapy and an intervention group receiving the same physiotherapy program (excluding upper extremity exercises) combined with VR-based exercises. The VR games will be designed specifically to improve shoulder, elbow, wrist, and hand functions and will be delivered using Meta Quest 3 headsets with hand-tracking capabilities. Both groups will receive therapy twice a week for 8 weeks. Assessments will be conducted before and after the intervention, and at follow-up, using validated tools to measure UE function, grip strength, fine motor skills, trunk control, fatigue, quality of life, and participation in daily activities. The study aims to explore innovative rehabilitation strategies for DMD and contribute to improving the independence and quality of life of affected individuals.

A Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping to Evaluate the Safety and Efficacy of ENTR-601-45

This is a study of the investigational medicine ENTR-601-45 in participants who have Duchenne muscular dystrophy (DMD), a rare genetic condition. The researchers want to: Test how safe ENTR-601-45 is, learn about any side effects, and look at the potential positive effects of ENTR-601-45, compared to placebo. Placebo looks like the investigational medicine but does not contain any active ingredient. In this summary ENTR-601-45 and placebo are both called study treatments. The study has 2 parts: Part A: to evaluate if ENTR-601-45 is safe and to determine the best dose of ENTR-601-45 for Part B. Part B: to further evaluate the effect and safety of ENTR-601-45 at the dose determined in Part A. Participants will be able to roll into an open-label treatment period during which the safety and efficacy of extended dosing will be evaluated. 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, muscle biopsies 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.

Safety and Dystrophin Expression of SPOT-03 in Duchenne Muscular Dystrophy (DMD) Patients

The primary objective of this study is to evaluate the safety and tolerability of SPOT-03 administered by intravenous (IV) infusion to DMD patients. In addition, this study will preliminarily investigate the changes in dystrophin nucleic acid concentration, dystrophin protein expression and engraftment, anti-dystrophin antibodies and cytokine profiles, as well as fat tissue mas and lean tissue mass following SPOT-03 administrations.

The Baby Duchenne Study: Characterizing Developmental and Clinical Outcomes in the First Three Years in Children With Duchenne Muscular Dystrophy

The aim of the BABY DUCHENNE study is to evaluate the natural history and characterize the early clinical outcomes in very young children (0-3 years) with Duchenne muscular dystrophy (DMD) identified by newborn screening programs.

An Open-label Long-term Follow-up Study of SAT-3247 for Participants With Duchenne Muscular Dystrophy Including Those Who Participated in SAT-3247-CL-101

This is an open-label long-term safety and efficacy study of orally administered SAT-3247 in patients with DMD that previously participated in SAT-3247-CL-101. The study will assess the long-term safety, tolerability and potential efficacy of long-term dosing of 60 mg of orally administered SAT-3247 in a 5-days on/2-days off (i.e. weekday dosing) regimen in an open-label design through 11 months- for a total of 12 months of treatment including the duration of the SAT-3247-CL-101 study. The study will enroll up to 10 participants that previously participated in the SAT-3247-CL-101 study.

Invasive Home Ventilation in Denmark

The aim of this study is to describe national trends over the past 10 years in patients receiving invasive home mechanical ventilation (HMV) in Denmark. This includes indications for invasive HMV, diagnostic groups, and one-year mortality.

Gut Peptides and Bone Remodeling in Children With Neuromuscular Disorders

Both GIP and GLP-2 reduce bone resorption (measured as CTX) in healthy adult individuals. In this study, we will investigate whether GIP and GLP-2 reduce CTX in children with spinal muscular atrophy, duchenne muscular dystrophy, or cerebral palsy.

A Trial to Investigate the Safety and Pharmacokinetics of GRT6019 in Healthy Male Participants

The purpose of this trial is to assess the safety, tolerability, and PK of 3 doses of GRT6019 in healthy male participants. This Phase I trial will be a multiple dose trial in healthy male participants with administration of GRT6019 in 3 cohorts. For each participant, the trial consists of a Screening Period of up to 28 days, a 4 week Treatment Period (including a 2-week clinic stay and 2 weeks in an outpatient setting), and a 5 week Follow-up Period.

Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders

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.

Urinary Titin Biomarker in DMD

A universal challenge in clinical investigation of novel therapeutics is the need for quantitative, objective biomarkers that directly address the mechanisms of disease and provide information relevant to clinically meaningful functional improvement. This has been a particular challenge in rare and slowly progressive diseases such as Duchenne Muscular Dystrophy (DMD). The investigators hypothesize that urinary N-terminal fragment of titin (NTFT) corresponding to activity level/intensity will define a high-precision, non-invasive biomarker of systemic muscle injury to enable serial measurements of efficacy and safety in the clinical investigation of gene therapy for DMD and other myopathies. This should provide a valuable exploratory, secondary and eventually primary outcome measure of therapeutic efficacy to minimize the enrollment size in informative early phase and pivotal clinical trials.

DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies

The goal of this observational study is to investigate whether the type, location, and extent of pathogenic variants in the DMD gene are associated with cardiac dysfunction in male children, adolescents, and young adults with dystrophinopathies. The study also evaluates whether cardiac biomarkers and electrocardiographic findings can facilitate the early identification of cardiac involvement. Participants will undergo electrocardiography, blood sampling for cardiac biomarker assessment, and transthoracic echocardiography, with cardiac dysfunction evaluated using ejection fraction (EF) and global longitudinal strain (GLS).

A Study to Evaluate the Safety and Tolerability of Rituxan in Duchenne Muscular Dystrophy

1. Study population:It is applicable to male participants with genetically confirmed and clinically confirmed Duchenne muscular dystrophy (DMD), aged between 6 and 10 years. 2. Research period:The main research period of this clinical study is one year. Participants were tested during the baseline period and were followed up on days 0, 7, 14, 21, 60, 120, 200, and 360. 3. Exploratory indicators：MR Of both thighs, quantitatively calculating the muscle fat replacement indicators of the buttocks and proximal thighs；Patient Self-Rating Scale, Caregiver Self-Rating Scale. 4. Safety assessment：The safety assessment population will include all participants who have received the drug dose and have at least one post-drug safety assessment. Adverse events (AE) collected from the participants signed informed consent, all the way to the main study period at the end of the last follow-up. Safety laboratory evaluation, laboratory safety monitoring, including hematology, blood biochemistry, urine analysis (including troponin I, CK and CK - MB) and blood coagulation function, as well as complement. All common medication will be recorded. All adverse events, including abnormal complete blood cell count results, will be continuously tracked until they are resolved or stabilized. Only treatment-related adverse events (TEAE) will be summarized. AEs will be based on MedDRA and organ systems are recorded and archived. The classification and terminology related to AEs will be described according to the version of CTCAE v6.0.

A Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 44 Skipping to Evaluate the Safety and Efficacy of ENTR-601-44

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.

Duchenne Muscular Dystrophy and the Viscoelastic Properties of Upper Limb Muscles

Muscular dystrophies are hereditary and progressive skeletal muscle diseases that cause degeneration and loss of strength in the muscles. The most common form is Duchenne Muscular Dystrophy (DMD), which is X-linked recessive and develops due to a mutation in the dystrophin gene. Dystrophin is a membrane protein found in skeletal muscle, cardiac muscle, vascular smooth muscle, and the brain, functioning as a component of the glycoprotein complex. In the absence of dystrophin, proteases break down the glycoprotein complex, resulting in the loss of membrane proteins, which leads to degeneration and weakness of muscle fibres. In addition to skeletal muscle, involvement of the respiratory and cardiac muscles is the most important cause of morbidity and mortality. Children with DMD are usually diagnosed with abnormal gait, frequent falls, and difficulty climbing stairs. Progressive functional loss is observed over time. Although the disease usually begins in the lower extremities, it eventually affects the upper extremities as well. Early stage: Lower extremity muscles are more affected (walking and climbing stairs become difficult). Advanced stages: Shoulder girdle, arm, and hand muscles begin to be affected. Weakness is particularly seen in the deltoid, biceps, and triceps muscles. There is limited shoulder movement and difficulty raising the arm. Therefore, functional losses are seen in the upper extremities. Functional losses generally cause difficulties in daily living activities; tasks requiring upper limb use, such as dressing, eating, and combing hair, become difficult. Hand skills (fine motor functions) are usually affected later, but distal muscles may also weaken over time. In summary, upper limb muscles weaken in individuals with DMD as the disease progresses. This can affect the individual's daily living activities. Regular monitoring of upper limb function, appropriate rehabilitation programmes, and supportive treatments aimed at improving quality of life are of great importance.

Registry for Duchenne and Becker Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is an X-linked, recessive, progressive, and degenerative neuromuscular disorder that affects approximately one in 5,000 newborn boys. The established "standard of care" has improved prognosis; however, a causal therapy is not yet available. In 2024 and 2025, the first disease-modifying therapies were approved. These include Vamorolone (Agamree®) as a corticosteroid replacement with a more favorable side-effect profile for children aged four and older, and Givinostat (Duvyzat®) as a combination therapy with corticosteroids for ambulatory boys aged six and older. In this context, the FAIR-DMD Registry was initiated. The registry is based on the so-called FAIR principles. The acronym FAIR stands for the data principles Findable, Accessible, Interoperable and Reusable. The international FAIR principles are guidelines for the description, storage, and publication of scientific or administrative data. The FAIR-DMD registry is a disease-specific, academically managed registry for patients with Duchenne and Becker muscular dystrophy (DMD/BMD). Its goal is to systematically collect clinical data, scientifically monitor new disease-modifying therapies in routine care, and create an evidence-based foundation for the further development of diagnostics, therapy, and care structures. Furthermore, the registry collects data on patients' health related quality of live using an app for data entry. The FAIR-DMD Registry is being established under the auspices of the Society for Neuropediatrics (GNP) and operated in close coordination with Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD). The GNP is a non-profit professional society that covers the entire spectrum of neuropediatric topics in clinical and cross-sector care. In the planned pilot phase, the GNP will act as trustee for financing. This model creates the opportunity to structurally address central challenges in health services research and establish a high-quality, internationally compatible registry structure. In the long term, the FAIR-DMD Registry aims to significantly improve care for DMD and BMD patients in German-speaking countries, evaluate the effectiveness of new therapies in clinical practice, and establish binding frameworks for quality-assured care.

Factors Influencing Physical Activity Levels in Children With Duchenne Muscular Dystrophy: An ICF-CY-Based Study

Duchenne Muscular Dystrophy (DMD) is a neuromuscular disease characterized not only by progressive muscle weakness but also by cognitive, behavioral, and psychosocial impairments. Motor losses that occur during disease progression reduce physical activity levels in children and increase the risk of developing a sedentary lifestyle. Interventions aimed at maintaining or promoting physical activity in children with DMD are important for preventing secondary complications associated with disuse and physical inactivity. To develop effective interventions, there is a need for comprehensive knowledge regarding the factors that influence physical activity levels. Current literature indicates that, in typically developing children, physical activity levels are influenced not only by motor factors but also by cognitive status, sleep, behavioral characteristics, and family-related environmental and psychosocial factors. However, information regarding these multidimensional factors affecting physical activity levels in children with DMD remains limited. This study aims to identify the body functions, activity, participation, environmental, and personal factors affecting physical activity levels in children with DMD based on the framework of the International Classification of Functioning, Disability and Health - Children and Youth Version (ICF-CY). Accordingly, the effects of posture, functional capacity, ambulatory status, balance, other musculoskeletal parameters, cognitive status, sleep habits and sleep quality, fear of falling, and behavioral characteristics, as well as family-related factors including parenting style, perceptions of physical activity, stress level, attitudes and perceptions toward daily life events, and disease impact, will be evaluated. The impact of these variables on physical activity levels and the magnitude of this effect will be examined within the ICF-CY framework.

DMD and Gamified Physiotherapy

Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular disease that limits children's physical function, mobility, and participation in daily life. Regular physiotherapy and exercise are essential to slow functional decline; however, many children experience difficulties maintaining motivation and adherence to long-term exercise programs. Low adherence leads to reduced treatment benefit and faster loss of motor abilities. This study aims to investigate whether a gamified mobile physiotherapy exercise program can improve participation, motivation, and physical outcomes in children with DMD. The mobile program includes personalized exercises designed by physiotherapists and occupational therapists, combined with game-based elements such as rewards, levels, feedback, and virtual achievements to enhance engagement. The program is delivered in addition to face-to-face physiotherapy. A total of 46 boys aged 6-12 years with a confirmed diagnosis of DMD will be recruited and randomly assigned to either an intervention group or a control group. Both groups will attend an 8-week center-based physiotherapy program. The intervention group will additionally use the gamified mobile exercise application at home, while the control group will receive a standard home exercise program. Participants will be evaluated before treatment, after 8 weeks, and at 6-month follow-up. The primary outcomes include physical function, endurance, and mobility. Secondary outcomes include psychosocial well-being, motivation, and therapy participation. The study intends to determine whether gamification-based telerehabilitation can increase adherence, preserve physical abilities, and support participation in children with DMD. If effective, this approach may offer a practical and accessible tool to support long-term rehabilitation needs in this population.