Clinical Research Directory

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).

Phase 2 Study of EDG-5506 in Becker Muscular Dystrophy (GRAND CANYON)

A study of sevasemten (EDG-5506) in Becker muscular dystrophy (known as CANYON) and pivotal cohort (known as GRAND CANYON). The EDG-5506-201 CANYON study was expanded to include an additional 120 adult participants in a cohort called GRAND CANYON, that is a multicenter, randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of sevasemten in adults with Becker. CANYON and GRAND CANYON are fully enrolled.

Open-Label Extension of EDG-5506 in Participants With Becker Muscular Dystrophy

EDG-5506-203 MESA is an open-label extension study to assess the long-term effect of sevasemten (EDG-5506) on safety, biomarkers, and functional measures in adults and adolescents with Becker muscular dystrophy

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.

Multiparametric Ultrafast Ultrasound Biomarkers for Duchenne and Becker Muscular Dystrophies

The purpose of this research study is to determine the potential of a multiparametric ultrasound approach to non-invasively monitor disease progression and to serve as an objective outcome measure for future clinical trials in Duchenne and Becker Muscular Dystrophies. The investigators will compare the muscles of ambulatory or non-ambulatory boys/men with Duchenne and Becker Dystrophies with muscles of healthy age-matched individuals of the same age and monitor disease progression in those with muscular dystrophies over a 12-month year period. The ultrafast ultrasound technology used in this study allows the simultaneous assessment of muscle structure, mechanics and physiology, including stiffness, anisotropy, viscosity, intramuscular fat, muscle volume, and microvascular perfusion. The amount of muscle alteration measured will be related to performance in daily activities, such as walking and muscle strength, in order to identify sensitive and objective markers of disease progression.

Biomarker Development for Muscular Dystrophies

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.

Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy

The purpose of this research study is to determine the potential of magnetic resonance imaging, spectroscopy, and whole body imaging to monitor disease progression and to serve as an objective outcome measure for clinical trials in Muscular Dystrophy (MD). The investigators will compare the muscles of ambulatory or non-ambulatory boys/men with DMD with muscles of healthy individuals of the same age and monitor disease progression in those with DMD over a 5-10 year period. The amount of muscle damage and fat that the investigators measure will also be related to performance in daily activities, such as walking and the loss of muscle strength. In a small group of subjects the investigators will also assess the effect of corticosteroid drugs on the muscle measurements. Additionally, the investigators will map the progression of Becker MD following adults with this rare disease. The primary objective is to conduct a multi-centered study to validate the potential of non-invasive magnetic resonance imaging and magnetic resonance spectroscopy to monitor disease progression and to serve as a noninvasive surrogate outcome measure for clinical trials in DMD and BMD. The secondary objective is to characterize the progressive involvement of the lower extremity, upper extremity, trunk/respiratory muscles in boys/men with DMD and BMD guiding clinical trials.

Defining Endpoints in Becker Muscular Dystrophy

This is a 24-month, observational study of 50 participants with Becker muscular dystrophy (BMD)

Follow-up Study on Female Carriers With DMD Gene Variants

Background Duchenne and Becker muscular dystrophies are X-linked recessive allelic disorders caused by mutations of the dystrophin gene on chromosome Xp21. Female carriers may pass on the pathogenic variant to their daughters, resulting in a significant number of female carriers of pathogenic DMD variants. There was a large variability in the severity of symptoms with some being asymptomatic and some having severe symptoms. Skewed X-Chromosome Inactivation (XCI) might explain some of this variability. But now, the underlying cause of the large variability in phenotype is therefore uncertain. Aim 1. To describe the change over a 6-year follow-up period in the structure and function of the heart and in function and muscle fat fraction in skeletal muscle of DMD/BMD carriers. 2. To explain the relationship between the XCI and the severity of the disease (phenotype). 3. To compare cardiac affection of female carriers of DMD/BMD to patients with BMD using new cardiac MRI techniques (spectroscopy and Dixon sequences). Methods This study contains three parts: Part 1 is a 6-year follow-up on 53 genetically verified female carriers of pathogenic DMD variants initially investigated in 2016-2018 at Copenhagen Neuromuscular Center, Rigshospitalet (Ethical journal no. H-16035677). In this part, the same 53 females will be investigated with the same measurements as 6 years ago to describe the progression of symptoms. All the follow-up results from this study will be compared to the results from 6 years ago. In Part 2 a muscle biopsy will be taken from 1-3 muscles (see "3.3.3 Description of outcomes) to investigate the XCI. To correlate the XCI to the phenotype, these patients will also undergo a muscle MRI and a Medical Research Council scale score for muscle strength (MRC). In Part 3 The cardiac structure and function in patients with BMD will be investigated using a cardiac MRI to compare the findings with that of female carriers. An MRC will carried out to investigate if the heart affection correlates to the muscle affection. Female carriers can decide whether to participate in Part 1, Part 2, or both. Patient with BMD can only participate in Part 3.

Muscle MRI Outlining of Neuromuscular Diseases Using Artificial Intelligence

Background and aim: Neuromuscular diseases encompass a range of conditions affecting muscle cells, nerves, or the interaction between the two. A common pathological feature of these conditions is the pro-gressive replacement of muscle tissue with fat, which can be visualised using magnetic reso-nance imaging (MRI). MRI-based fat quantification serves as a key biomarker for disease characterisation, progression tracking, and treatment assessment. Currently, manual segmenta-tion of MRI scans for fat quantification is very time-consuming, requiring individual muscle delineation. Therefore, an artificial intelligence (AI) model is being developed to automate the segmentation. The aim of this study is to validate this AI model and assess its possibilities and limitations. Method: The study is ongoing. Retrospective MRI scans of patients with four different muscle diseases (anoctaminopathy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and hypokalemic periodic paralysis) are collected and manual delineation used for training the AI-model is being performed. The intramuscular fat fraction of individual muscles of the pelvis, thigh, and calf will be analysed using the AI model. The performance of the AI model will be compared to manual segmentation. The AI will be evaluated on metrics such as segmentation accuracy and time efficiency.

Effectiveness of 5-week Digital Respiratory Practice in Children With Duchenne and Becker Muscular Dystrophies.

The purpose of this study is to analyze the effectiveness of a 5-weeks respiratory digital intervention program in patients with Duchenne muscular dystrophy and Becker muscular dystrophy.

The Duchenne Registry

The Duchenne Registry is an online, patient-report registry for individuals with Duchenne and Becker muscular dystrophy and carrier females. The purpose of the Registry is to connect Duchenne and Becker patients with actively recruiting clinical trials and research studies, and to educate patients and families about Duchenne and Becker care and research. At the same time, The Duchenne Registry is a valuable resource for clinicians and researchers in academia and industry, allowing access to de-identified datasets provided by patients and their families-information that is vital to advances in the care and treatment of Duchenne. The Duchenne Registry is a member of the TREAT-NMD Neuromuscular Network.

Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD

Longitudinal prospective observational study. This is a 24-month study with the possibility of extending the data time points. Initially baseline, then 12 and 24 months follow up studies will be completed.

CureDuchenne Link®: A Resource for Research

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).

Applying the Pathways and Resources for Engagement and Participation Protocol Among People With Muscles Dystrophies

Taking part in community activities is essential for health and well-being. Yet, it is highly restricted for young people with Duchenne and Becker Muscular Dystrophies (DBMD), especially as they grow into adulthood. The Participation Pathways and Resources for Engagement and Participation (PREP) intervention is designed to help remove barriers in the environment. This study aims to see if the PREP intervention is useful and practical for youth and young adults with DBMD. The main question is: How useful is the PREP intervention for improving participation in community-based activities chosen by the participants? Participants will start the study at different times (4, 5, or 6 weeks) and work one-on-one with an occupational therapist on a leisure activity of their choice. They will have eight sessions over 12 to 18 weeks to work on this activity. They will use the Canadian Occupational Performance Measure (COPM) every week to track their performance and satisfaction with the chosen activity before, during, and after the intervention. The findings of this study can guide clinicians, families, and policymakers to select effective approaches that promote the participation of youth and young adults with DBMD in 'real world' activities they choose. It can also increase motivation and compliance and reduce the burden on the healthcare system, families, and people with DBMD themselves.

Rehabilitation in Muscular Dystrophies From the Hospital Facility to the Home: Pilot Project [RIMUDI]

Until twenty years ago physical exercise in muscular dystrophies was considered harmful to the muscle cells, inducing an acceleration of cell necrosis. In fact, it is now certain and validated that an active lifestyle and the practice of controlled and regular physical activity are to be considered therapeutic in neuromuscular pathologies with the aim of optimizing muscular and cardio-respiratory function and preventing atrophy In particular, it seems that the optimal care is extensive and can be carried out in a safe and controlled manner even at home. It is well documented that exercise has beneficial effects on muscle with increased strength and muscular endurance.