Muscular dystrophy describes a group of genetic diseases that cause progressive muscle weakness and loss. Duchenne muscular dystrophy is the most common childhood form, affecting about 1 in 3,500 boys. Treatment has historically focused on managing symptoms and slowing decline, but gene therapies and precision medicines are now reaching patients for some forms.
What's actually going on in research
Trials are testing gene therapies that deliver working copies of dystrophin or other missing proteins, exon-skipping drugs that help cells produce partial but functional protein, and myostatin inhibitors that may preserve muscle mass. Researchers are also studying CRISPR-based gene editing, anti-inflammatory drugs that reduce muscle damage, and approaches to heart and breathing complications that often determine lifespan.
Gene therapy
Several gene therapies deliver a shortened but functional dystrophin gene using AAV vectors. Early results show slowing of decline in some boys with Duchenne, though durability and dosing remain active research questions.
Exon skipping
Drugs like eteplirsen and golodirsen enable cells to skip over specific genetic errors and produce some dystrophin. Multiple exon-skipping drugs are now approved, each tailored to mutations affecting different groups of patients.
CRISPR gene editing
Trials are testing CRISPR to directly repair the dystrophin gene in muscle cells. Early data from small studies suggest the approach is safe and may produce measurable protein.
What to know before you search
Eligibility typically depends on muscular dystrophy type, specific genetic mutation, age, walking ability, and whether patients are taking corticosteroids.
What types of trials are currently open
- Gene therapy trials — Testing one-time infusions that deliver working genes for dystrophin or other muscle proteins. Most focus on Duchenne muscular dystrophy in boys who can still walk.
- Exon-skipping trials — Testing drugs that help cells skip over genetic errors and make partial but functional protein. Each drug targets specific mutation patterns.
- Muscle preservation trials — Testing drugs like myostatin inhibitors and anti-inflammatory agents that aim to slow muscle breakdown and preserve strength.
- Gene editing trials — Early studies of CRISPR and other tools that directly repair genetic errors in muscle cells.
- Natural history studies — Following people with muscular dystrophy over time to understand disease progression and establish measures for testing new treatments.
Recently added Muscular Dystrophy trials
Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy
Myotonic dystrophy type 1 (DM1) can affect people in many different ways, even in the same family. The symptoms that children experience can be different and more severe than adults. Prior studies in children have been limited because only a small number of children could participate. In this study, we hope to learn more about these differences and what causes them. This is an observational study conducted in participants' homes and does not require travel. Instead, we will use video calls to talk with children and their parents/guardians about DM1 symptoms and how it affects the child's muscles, heart, and brain. We'll send families an iPad and the other tools they need for the study. During the video call, kids will do some simple activities to see how their body moves and functions. Parents/guardians might need to help their child with some of these activities. After the video visit, we'll get a small blood sample from the child. This can be done at a local lab or even at home. We'll then look at the child's genes in the blood sample to understand how they might be linked to their symptoms. Parents/guardians can chose to have their child's genetic test result returned to them.
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.
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