Duchenne muscular dystrophy is a genetic disease that causes progressive muscle weakness, usually diagnosed in boys around age 3-5. About 1 in 3,500 boys are born with it. Corticosteroids remain the standard treatment to slow decline, while newer therapies target specific genetic mutations or aim to increase functional dystrophin protein.
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 for specific mutations, and drugs that increase utrophin or reduce inflammation. Several gene therapies received accelerated FDA approval between 2020-2023, though long-term benefit is still being studied. Researchers are also testing heart and breathing treatments, since these complications drive mortality.
Gene therapy
Several gene therapies now deliver micro-dystrophin genes using AAV vectors. Early results show some boys produce measurable dystrophin and maintain walking ability longer than expected.
Exon skipping
Drugs like eteplirsen and golodirsen work for boys with specific deletions, skipping over damaged sections of the gene to produce shorter but functional dystrophin. Additional exon-skipping drugs are in trials to cover more mutation types.
Heart protection
Heart failure is a leading cause of death in Duchenne. Trials are testing whether starting heart medications earlier, before symptoms appear, can delay cardiac decline.
What to know before you search
Eligibility depends on age, walking ability, specific genetic mutation, prior steroid use, and heart or lung function. Gene therapy trials often require boys under 7-10 who are still walking.
What types of trials are currently open
- Gene therapy trials — Testing one-time infusions that deliver working dystrophin genes. Most require boys to be ambulatory and under age 7-10.
- Exon-skipping trials — Testing weekly or monthly infusions of drugs that restore partial dystrophin for specific genetic mutations, usually exon 45, 51, or 53 deletions.
- Anti-inflammatory trials — Testing drugs that reduce muscle inflammation and fibrosis, which drive progressive weakness.
- Cardiac trials — Testing heart medications started early to delay cardiomyopathy, the heart muscle weakness that develops in most people with Duchenne.
- Observational studies — Following boys with Duchenne to measure disease progression, functional outcomes, and response to treatments over time.
Recently added Duchenne Muscular Dystrophy trials
Track pain and movement changes over 6 months
1\. Brief Summary This prospective observational study aims to evaluate the 6-month longitudinal changes in chronic pain, pain characteristics, coping strategies, and functional performance in children and adolescents aged 7 to 18 years diagnosed with Duchenne Muscular Dystrophy (DMD), with a primary focus on comparing ambulatory and non-ambulatory disease stages. Pediatric DMD patients followed at the University of Health Sciences Antalya Training and Research Hospital Neuromuscular Diseases Center will undergo comprehensive evaluations at baseline (Month 0) and at 6 months follow-up (Month 6). Pain parameters will be evaluated using the Adolescent Pediatric Pain Tool (APPT) to assess pain intensity, body localization, and sensory/affective/evaluative/temporal qualities, and the Brief Pain Inventory (BPI) 7-item Pain Interference Scale to determine pain interference with daily activities. Pain coping strategies will be assessed using the Pediatric Pain Coping Inventory (PPCI, adolescent and parent versions). Functional and motor assessments will include the North Star Ambulatory Assessment (NSAA), 6-Minute Walk Test (6MWT), stair climb/descend tests, Vignos and Brooke scales, handgrip dynamometry, manual muscle testing (MMT), and range of motion (ROM) and contracture evaluations, alongside anthropometrics and quality of life. The central hypotheses are that non-ambulatory patients experience chronic pain more frequently, with longer duration, greater intensity, and across a higher number of anatomical sites than ambulatory patients. Furthermore, the study hypothesizes that anatomical pain sites, pain-aggravating and pain-relieving factors, and pain coping mechanisms differ significantly between ambulatory and non-ambulatory stages.
Bone Health in Adults With Duchenne Muscular Dystrophy: A Survey on Osteoporosis, Fractures and Treatment.
Background and Rationale Duchenne muscular dystrophy (DMD) is a genetic disorder caused by mutations in the dystrophin gene, resulting in progressive muscle weakness and multiple complications, including respiratory and cardiac impairment, osteoporosis (OP), and fragility fractures (FF). Bone fragility is a major concern, as lower-limb fractures may accelerate the loss of independent ambulation and complicate daily care. Despite increased life expectancy, bone health in adults with DMD remains insufficiently investigated. This study aims to address this knowledge gap and improve the understanding and management of skeletal complications in this population. Objectives The study aims to: (1) determine the prevalence of fragility fractures in adults with DMD; (2) identify childhood and adolescent risk or protective factors affecting adult bone health; (3) collect data on fracture treatment; (4) measure serum analytes involved in bone metabolism and bone-muscle crosstalk; and (5) identify genetic modifiers associated with increased fracture risk. Study Population Approximately 200 patients with DMD aged over 18 years will be recruited from 15 Italian tertiary referral centers specializing in neuromuscular diseases. A control group of healthy males aged over 18 years will be recruited exclusively at the coordinating center. Controls will undergo only a blood collection of approximately 3 mL for serum analysis. Study Design and Procedures Patients will undergo respiratory assessment, including peak expiratory flow (PEF), forced vital capacity (FVC), and respiratory support requirements; orthopedic assessment of scoliosis, contractures, deformities, and previous spinal fusion surgery; motor function assessment using the North Star Ambulatory Assessment (NSAA); upper-limb function assessment using the Performance of the Upper Limb (PUL) scale; and the Six-Minute Walk Test (6MWT). Imaging procedures will include a lateral thoracolumbar spine radiograph (T4-L4) and dual-energy X-ray absorptiometry (DXA) of the lumbar spine (L1-L4) and total body less head (TBLH). Clinical and medical history data will be recorded using a dedicated case report form (CRF). Biological Samples and Analyses One blood sample of approximately 3 mL will be collected for serum extraction and analysis of metabolites involved in bone metabolism and bone-muscle crosstalk. Samples will be centralized at the coordinating center and then sent to the University of Campania "Luigi Vanvitelli" for analysis. Healthy control samples will be used for comparison. Two additional blood tubes, totaling approximately 6 mL, will be collected for DNA extraction and genome-wide association studies (GWAS), aimed at identifying genetic modifiers associated with increased fracture risk. These samples will be centralized and subsequently sent to the University of Padua for genetic analysis. Data Management and Ethics Study data will be anonymized and managed in accordance with the General Data Protection Regulation (GDPR, EU 2016/679) and the Declaration of Helsinki. Patients and/or their legally authorized representatives will receive the study information and provide written informed consent before participation. Investigators will declare any potential conflicts of interest. Expected Outcomes The study will characterize bone health and fragility fracture prevalence in adults with DMD, describe fracture management, and investigate clinical, developmental, biochemical, and genetic factors associated with fracture risk. The findings may help improve fracture prevention, bone health monitoring, and clinical management in this population.
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