Duchenne muscular dystrophy is a genetic disease that causes progressive muscle weakness, typically diagnosed in early childhood. Boys with Duchenne usually lose the ability to walk by their early teens, and most develop heart and breathing problems in their twenties. Current care includes corticosteroids to slow muscle loss, along with physical therapy, braces, and support for heart and lung function.
What's actually going on in research
Trials are testing gene therapies that deliver working copies of the dystrophin gene, exon-skipping drugs that restore partial dystrophin production in people with specific mutations, and drugs that address muscle inflammation and fibrosis. Researchers are also studying medications to protect heart function and new approaches to respiratory care. Several gene therapies have received conditional FDA approvals based on early evidence.
Gene therapy
Multiple gene therapies aim to deliver a shortened but functional dystrophin gene using viral vectors. Some have received accelerated FDA approval while longer-term studies continue to measure clinical benefit.
Exon skipping
Drugs like eteplirsen, golodirsen, and casimersen help cells skip over specific faulty sections of the dystrophin gene, allowing production of partial dystrophin protein. Each drug works only for people with certain mutations.
Anti-fibrotic drugs
Several trials are testing drugs that reduce the scar tissue buildup in damaged muscles. The goal is to preserve muscle function longer, potentially complementing gene therapies or exon-skipping approaches.
What to know before you search
Eligibility typically depends on confirmed genetic mutation type, age, walking ability, prior steroid use, and whether you've received prior gene therapy or have antibodies to viral vectors.
What types of trials are currently open
- Gene therapy trials — Testing one-time infusions that deliver a functional dystrophin gene. Most require participants who haven't previously received gene therapy and who test negative for antibodies to the viral vector.
- Exon-skipping trials — Testing drugs for people with specific genetic mutations, typically requiring weekly infusions. Each drug targets a different exon.
- Anti-inflammatory trials — Testing drugs that reduce muscle inflammation and scarring, often given as pills or injections alongside standard corticosteroids.
- Cardiac protection trials — Testing medications to slow or prevent the heart muscle damage that develops in most people with Duchenne by their twenties.
- Natural history studies — Following boys and young men with Duchenne over time to measure how the disease progresses and to establish comparison data for treatment trials.
Recently added Duchenne Muscular Dystrophy trials
Share heart imaging scans to help predict outcomes in Duchenne muscular dystrophy
Dystrophin associated heart dysfunction is a leading cause of death in patients with Duchenne and Becker Muscular dystrophy (DMD/BMD) and Duchenne and Becker muscular dystrophy carriers (MDC); however, the evolution of heart dysfunction is not well-understood. The central objectives of this proposal are to elucidate this evolution of heart dysfunction and identify measures from cardiac MRI images that can predict death or significant heart disease in patients with DMD/BMD/MDC. This study will create a large clinical and cardiac MRI registry of dystrophin associated heart dysfunction, will utilize advanced image analysis techniques, including deep learning neural networks, to comprehensively evaluate every patient, and will create a risk toolkit accessible to clinicians around the world; this proposal has the potential to improve the quality of life in patients with dystrophin associated heart dysfunction by allowing for earlier and more intensive therapy in patients with severe disease and by identifying surrogate outcome measures for use in therapeutic trials.
Receive a gene therapy treatment being tested for Duchenne muscular dystrophy
The study will evaluate the tolerability, safety and efficacy of gene therapy product in boys with Duchenne muscular dystrophy (DMD). In Phase I the participants will be included in two sequential dose cohorts with increasing doses of the investigational product. Based on the results of Phase I, the dose of the investigational product for use in Phase II will be determined. Phase II is a randomized, single-blind, placebo-controlled study. The participants who are randomized to the placebo arm will have an opportunity for treatment with gene therapy at the beginning of the second year.
Find Duchenne Muscular Dystrophy trials matched specifically to you
Answer 3 quick questions and we'll show you trials that fit your situation.