WORLD DUCHENNE AWARENESS DAY
Timely diagnosis, multidisciplinary follow-up, and the development of new therapies have changed the care of Duchenne muscular dystrophy, although important disparities in access remain.
Duchenne muscular dystrophy usually becomes apparent during the first years of life. Frequent falls, difficulty running or climbing stairs, and using the hands to push on the legs when rising from the floor are among the signs that may prompt medical evaluation. Early recognition can facilitate diagnosis and timely initiation of specialized follow-up.
World Duchenne Awareness Day is observed every September 7 and has been officially recognized by the United Nations since 2024. The 2026 campaign, “Access Changes Lives,” calls attention to persistent disparities in access to reliable information, timely diagnosis, multidisciplinary care, specialized services, clinical trials, and innovative therapies. [1,2]
| KEY POINT Genetic diagnosis and multidisciplinary care should begin promptly and continue throughout every stage of the disease.
General characteristics of the disease
Duchenne muscular dystrophy (DMD) is a progressive, inherited X-linked neuromuscular disorder. It is caused by pathogenic variants in the DMD gene, located at Xp21.2, that disrupt the production of functional dystrophin. This protein helps protect muscle-fiber membranes from the mechanical stress of contraction; when dystrophin is absent, muscle accumulates damage and, over time, some muscle tissue is replaced by fibrous and fatty tissue. Although motor weakness is its most visible manifestation, Duchenne can also affect the heart, respiratory function, bone health, nutrition, and aspects of learning, behavior, and psychosocial well-being. [3-5]
The estimated frequency is approximately 1 in 3,600 to 6,000 live male births, although estimates vary by population and methodology. Because of its X-linked inheritance pattern, the disease primarily affects males. Females with a pathogenic DMD variant may also develop muscular or cardiac manifestations; published series report variable frequencies, so genetic counseling and individualized follow-up according to clinical risk are important. [3,6]
Early manifestations
Manifestations generally become evident between three and five years of age. Some may initially be attributed to variations in motor development, which can contribute to delayed diagnostic evaluation.
Signs that warrant medical evaluation include:
- – Delay in acquiring motor milestones;
- – Frequent falls or difficulty keeping pace with other children;
- – Difficulty running, jumping, or climbing stairs;
- – Toe walking and apparent enlargement of the calves;
- – Using the hands to push on the legs when rising from the floor, known as gowers’ sign.
None of these signs alone confirms the disease, but they warrant medical evaluation. When DMD is suspected, assessment includes examination of strength and motor development and, typically, measurement of creatine kinase (CK), which is usually markedly elevated.
Findings should lead promptly to appropriate neuromuscular and genetic evaluation. [3]
Diagnostic confirmation and guidance for follow-up
Diagnostic confirmation is based on molecular analysis of the DMD gene. Identifying the specific variant helps guide genetic counseling for the family, assess other individuals who may be at risk, and determine whether the patient meets criteria for variant-specific therapies or selected clinical trials. In certain situations, when clinical suspicion remains high and initial genetic testing is inconclusive, additional studies may be required. [3,5]
Diagnostic delay nevertheless remains a problem. U.S. surveillance data have shown an average interval of approximately 2.2 years between the first signs and diagnostic confirmation in children without a documented family history. This delay may represent missed opportunities for genetic counseling, early implementation of standards of care, and consideration of therapeutic or research options. [7]
When persistent motor delay is present, developmental milestones should be reviewed, a focused clinical examination performed, and appropriate testing requested. Information provided by the family is especially useful for reconstructing symptom progression and recognizing functional changes.
Clinical management and multidisciplinary follow-up
Duchenne is a progressive disease that, without appropriate interventions, leads to motor deterioration and may cause orthopedic, respiratory, and cardiac complications. Its natural history has been modified by corticosteroids, systematic surveillance, and multidisciplinary care, which have contributed to longer survival and improved management of complications. [3,4]
Corticosteroids remain one of the mainstays of treatment. They can prolong motor function and delay some complications. Because the disease affects multiple systems, management extends well beyond pharmacologic treatment.
Care requires coordination among family medicine and primary care, neurology, cardiology, pulmonology, orthopedics, endocrinology, genetics, rehabilitation, physical therapy, nutrition, psychology, and social work, according to each person’s needs. It should include prevention of contractures, scoliosis management, respiratory monitoring, ventilatory support when indicated, cardiomyopathy surveillance, bone-health protection, and psychosocial support. [3-5]
Loss of ambulation does not mark the end of therapeutic opportunities. At that stage, preservation of upper-limb function, cardiopulmonary care, pain management, assistive technologies, and participation in decisions about one’s own life remain essential.
Treatments introduced in recent years
In the United States, several FDA-approved therapies are available for Duchenne, including corticosteroids, four antisense oligonucleotides for variants amenable to exon skipping, givinostat, and the gene therapy delandistrogene moxeparvovec. Their indications, regulatory pathways, and eligible populations differ, and some were authorized through the accelerated approval pathway. These authorizations apply to the U.S. regulatory context and do not imply that the products are approved, indicated, or available in every country. [8]
Exon-skipping therapies
Eteplirsen, golodirsen, viltolarsen, and casimersen are antisense oligonucleotides designed to induce skipping of exons 51, 53, 53, and 45, respectively. They aim to modify RNA processing to restore the reading frame and enable production of a shorter form of dystrophin. They apply only to patients with variants amenable to skipping of the corresponding exon and require repeated intravenous administration. The FDA maintains these four products under accelerated approval and notes that confirmatory clinical benefit remains under evaluation. [8]
Vamorolone and givinostat
Vamorolone (Agamree) is a corticosteroid approved by the FDA for the treatment of Duchenne in patients two years of age and older. Its pharmacologic profile differs from that of conventional glucocorticoids, but treatment still requires individualized assessment of benefits, risks, interactions, and adverse effects. [8,9]
Givinostat (Duvyzat), approved by the FDA for people six years of age and older, is a histone deacetylase (HDAC) inhibitor. Unlike exon-skipping therapies, its U.S. indication does not depend on a specific genetic variant. Its use requires consideration of the indications, contraindications, precautions, and monitoring requirements described in current regulatory information. [8,10]
Gene therapy: available evidence and safety
In 2023, the FDA granted accelerated approval to delandistrogene moxeparvovec-rokl (Elevidys), the first gene therapy authorized in the United States for Duchenne. It uses an AAVrh74 vector to deliver a transgene that enables production of micro-dystrophin, a shortened version of the protein. The indication was expanded in 2024 and modified again in 2025 in response to new safety information. [11]
Evidence of efficacy has been debated. In the phase 3 EMBARK trial, the change in the North Star Ambulatory Assessment (NSAA) at 52 weeks numerically favored treatment, but the difference versus placebo did not reach statistical significance for the primary endpoint. Some secondary endpoints showed favorable differences, although these findings should be interpreted within the overall body of evidence and the study’s limitations. [12]
Subsequent safety evaluation changed the regulatory landscape. Following reports of severe liver injury and acute liver failure, including fatal cases, the FDA added a Boxed Warning in November 2025 and restricted the indication. As of September 2026, Elevidys is indicated in the United States for ambulatory patients four years of age and older with a confirmed mutation in the DMD gene, subject to specific warnings and limitations of use. Patient selection and safety monitoring must strictly follow current regulatory information. [11]
| CLINICAL INTERPRETATION The indication for an advanced therapy requires consideration of efficacy evidence, known risks, individual patient characteristics, and uncertainties that remain unresolved.
Current areas of research
Research is advancing along several paths, including new viral vectors, CRISPR-based gene editing, strategies to increase utrophin expression, cell-based approaches, and therapies targeting inflammation and fibrosis. All seek to address the same question: how to preserve functional muscle safely and sustainably.
One recent experimental approach investigates muscle-targeted extracellular vesicles as vehicles for full-length dystrophin messenger RNA. Research published in 2026 describes preclinical findings in mouse models of Duchenne, with dystrophin expression in several muscle groups after repeated administrations. The approach is intended to explore alternatives to some limitations of AAV vectors, but it remains preclinical. [13]
These findings are preclinical. Results from animal models justify continued investigation, but they do not establish that this strategy is safe or effective in humans and do not support its clinical use for Duchenne outside authorized research protocols. [13]
Access, continuity of care, and inclusion
For Duchenne, access includes reliable information, timely diagnosis, specialist assessment, multidisciplinary care, continuous rehabilitation, cardiac and respiratory surveillance, assistive technologies, psychosocial support, and support for families. It also includes accessible educational and social environments that promote autonomy and participation. [1,2]
Geographic and economic disparities affect care. Distance from specialized centers, authorization timelines, and the cost or availability of certain treatments can delay necessary interventions.
Clinical evaluation should consider each person’s priorities and life goals. The participation of people living with Duchenne and the experience of their families provide valuable information for clinical decisions, research, and public policy design.
Awareness, rights, and social participation
The 2024 global campaign, “Raise Your Voice for Duchenne,” drew attention to barriers faced by people with dystrophinopathies in exercising their rights. These include insufficient educational accommodations, difficulties accessing and remaining in higher education, limited employment opportunities, and restrictions on participation in leisure activities or pursuit of personal goals. [14]
Duchenne Parent Project Spain developed testimonials, scientific activities, and awareness initiatives. In several cities, monuments were illuminated in red and participation on social media was encouraged. The organization also produced “Robi contra Duchenne,” an audiovisual piece featuring a small robot whose circuits progressively weaken. The initiative, later turned into a solidarity toy, helped explain the disease to non-specialist audiences. [14]
These initiatives seek to broaden the participation of people with Duchenne in public discussion. The United Nations General Assembly officially designated September 7 as World Duchenne Awareness Day, to be observed annually beginning in 2024, reinforcing the importance of awareness, inclusion, and solidarity with affected people and families. [2]
Priorities for care
The September 7 observance provides an opportunity to reaffirm several priorities: recognizing early manifestations, reducing diagnostic delay, ensuring continuity of interdisciplinary teams, supporting research, and reducing barriers to education, mobility, and participation.
| Timely and continuous care can preserve function, prevent complications, and improve quality of life for people with Duchenne.
Stemwell Regenerative Medicine Clinic
Stemwell Regenerative Medicine Clinic provides clinical evaluation and individualized follow-up within the services for which it is authorized. In complex diseases such as Duchenne muscular dystrophy, information about emerging therapies must clearly distinguish approved treatments from experimental and preclinical strategies.
There is currently no cure for Duchenne muscular dystrophy. Any intervention should be integrated into multidisciplinary management, based on the best available evidence, and individually consider potential benefits, risks, limitations, and regulatory status. The experimental strategies described in this article do not constitute a treatment recommendation and do not imply clinical availability at Stemwell.
| STEMWELL Regenerative medicine, clinical evaluation, and individualized care.
Editorial note. This content is for educational purposes only and does not replace individualized assessment by a specialized healthcare team. Indications, regulatory approvals, and clinical recommendations may vary by country and change as new evidence emerges.
Bibliography
- 1. World Duchenne Organization. World Duchenne Awareness Day 2026: Access Changes Lives [Internet]. [cited 2026 Sep 3]. Available from: https://www.worldduchenne.org/world-duchenne-awareness-day/
- 2. United Nations. World Duchenne Awareness Day [Internet]. New York: United Nations; [cited 2026 Sep 3]. Available from: https://www.un.org/en/observances/duchenne-awareness-day
- 3. Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251-267. doi:10.1016/S1474-4422(18)30024-3.
- 4. Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018;17(4):347-361. doi:10.1016/S1474-4422(18)30025-5.
- 5. Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Colvin MK, et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018;17(5):445-455. doi:10.1016/S1474-4422(18)30026-7.
- 6. Ishizaki M, Kobayashi M, Adachi K, Matsumura T, Kimura E. Female dystrophinopathy: review of current literature. Neuromuscul Disord. 2018;28(7):572-581. doi:10.1016/j.nmd.2018.04.005.
- 7. Thomas S, Conway KM, Fapo O, et al. Time to diagnosis of Duchenne muscular dystrophy remains unchanged: findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000-2015. Muscle Nerve. 2022;66(2):193-197. doi:10.1002/mus.27532.
- 8. U.S. Food and Drug Administration. Cellular, Tissue, and Gene Therapies Advisory Committee: July 29, 2026 meeting briefing document [Internet]. Silver Spring (MD): FDA; 2026 [cited 2026 Sep 3]. Available from: https://www.fda.gov/media/193839/download
- 9. U.S. Food and Drug Administration. Drug Trials Snapshots: AGAMREE [Internet]. Silver Spring (MD): FDA; 2023 [cited 2026 Sep 3]. Available from: https://www.fda.gov/drugs/drug-approvals-and-databases/drug-trials-snapshots-agamree
- 10. U.S. Food and Drug Administration. FDA approves nonsteroidal treatment for Duchenne muscular dystrophy [Internet]. Silver Spring (MD): FDA; 2024 [cited 2026 Sep 3]. Available from: https://www.fda.gov/news-events/press-announcements/fda-approves-nonsteroidal-treatment-duchenne-muscular-dystrophy
- 11. U.S. Food and Drug Administration. ELEVIDYS (delandistrogene moxeparvovec-rokl) [Internet]. Silver Spring (MD): FDA; 2026 [cited 2026 Sep 3]. Available from: https://www.fda.gov/vaccines-blood-biologics/tissue-tissue-products/elevidys
- 12. Mendell JR, Muntoni F, McDonald CM, Mercuri EM, Ciafaloni E, Komaki H, et al. AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial. Nat Med. 2025;31:332-341. doi:10.1038/s41591-024-03304-z.
- 13. Tang Y. Muscle-targeted extracellular vesicles for full-length dystrophin mRNA therapy in Duchenne muscular dystrophy. Nat Biomed Eng. 2026 Jun 11. doi:10.1038/s41551-026-01658-y.
- 14. Duchenne Parent Project España. 7 de septiembre de 2024 Día Mundial de la Concienciación de Duchenne: «Alza tu voz por Duchenne» [Internet]. Madrid: Duchenne Parent Project España; 2024 [cited 2026 Sep 3]. Available from: https://www.duchenne-spain.org/blog/dia-mundial-de-la-concienciacion-de-duchenne-wdad2024/
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