About Duchenne Muscular Dystrophy | Challenge Duchenne For HCPs

DMD care and management impact families

DMD is associated with a significant burden, from both a lifestyle and socioeconomic perspective:

The time required to manage appointments and administrative tasks is significant⁵

Based on an international survey of 770 patients and their caregivers,

~27%-49%

of caregivers had to stop working to care for a child with DMD^6,7

Journey to Diagnosis

There is a delay of 2.5 years on average between the initial onset of DMD symptoms and the time of a definitive diagnosis.^11,12

Only 16.5% of patients received a referral to a neurologist or neuromuscular specialist (NMS) after visiting their primary care practitioner with concerns about signs and symptoms of DMD, based on a study (N=453) analyzing patient medical records from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).¹¹

This delay in diagnosis and initial treatment may be even longer for certain patients depending on their racial/ethnic background, socioeconomic status, or geographic location.¹³

Infancy

Delayed motor milestones

Motor milestone delays such as walking and/or delayed speech are observed.¹¹

Age 2.5*

Onset of symptoms

Age 3.6

First primary care evaluation for signs and symptoms of DMD

Developmental progression is not in line with peers and growth charts.^14,15

Age 4.6

First specialist evaluation

Age 4.7

First creatine kinase test

Abnormal movements are observed, such as waddling gait and toe walking.¹¹

Age 4.9

Diagnosis

*All ages are average, as each patient journey is unique.

Duan D, Goemans N, Takeda S, Mercuri E, Aartsma-Rus A. Duchenne muscular dystrophy. Nat Rev Dis Primers. 2021;7(1):1-19.
Ryder S, Leadley RM, Armstrong N, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017;12(1):79.
Birnkrant DJ, Bushby K, Bann CM, 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.
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77-93.
Williams K, Davidson I, Rance M, Buesch K, Acaster S. A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy. J Patient Rep Outcomes. 2021;5(1):71.
Landfeldt E, Lindgren P, Bell CF, et al. Quantifying the burden of caregiving in Duchenne muscular dystrophy. J Neurol. 2016;263(5):906-915.
Landfeldt E, Lindgren P, Bell CF, et al. The burden of Duchenne muscular dystrophy: an international, cross-sectional study. Neurology. 2014;83(6):529-536.
Duchenne Muscular Dystrophy. NCBI Bookshelf. Accessed November 11, 2022. https://www.ncbi.nlm.nih.gov/books/NBK482346
Zambon AA, Gupta VA, Ridout D, et al. Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy. Dev Med Child Neurol. 2022;64:979-988.
Romitti PA, Zhu Y, Puzhankara S, et al. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics. 2015;135(3):513-521.
Ciafaloni E, Fox DJ, Pandya S, et al. Delayed diagnosis in Duchenne muscular dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr. 2009;155(3):380-385.
Mercuri E, Pane M, Cicala G, et al. Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications. Frontiers in Pediatrics. 2023;11:1-9.
Mann JR, Zhang Y, McDermott S, et al. Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne muscular dystrophy. Neuroepidemiology. 2023;57:90-99.
Ward LM, Weber DR. Growth, pubertal development, and skeletal health in boys with Duchenne muscular dystrophy. Curr Opin Endocrinol Diabetes Obes. 2019;26(1):39-48. doi:10.1097/MED.0000000000000456
van Dommelen P, van Dijk O, de Wilde JA, Verkerk PH. Early developmental milestones in Duchenne muscular dystrophy. Dev Med Child Neurol. 2020;62(10):1198-1204. doi:10.1111/dmcn.14623
Kamdar F, Garry DJ. Dystrophin-deficient cardiomyopathy. J Am Coll Cardiol. 2016;67(21):2533-2546
Fortunato F, Rossi R, Falzarano MS, Ferlini A. Innovative therapeutic approaches for Duchenne muscular dystrophy. J Clin Med. 2021;10(4):820.
A study to evaluate the safety and tolerability of PF-06939926 gene therapy in Duchenne muscular dystrophy. Published January 10, 2022. Accessed November 11, 2022. https://clinicaltrials.gov/ct2/show/NCT03362502?term=NCT03362502
A gene transfer therapy study to evaluate the safety and efficacy of SRP-9001 in participants with Duchenne muscular dystrophy (DMD) (EMBARK). Published December 16, 2021. Accessed November 11, 2022. https://clinicaltrials.gov/ct2/show/NCT05096221
Microdystrophin gene transfer study in adolescents and children with DMD (IGNITE DMD). Updated August 24, 2021. Accessed November 11, 2022. https://clinicaltrials.gov/ct2/show/NCT03368742?term=NCT03368742

In Duchenne muscular dystrophy (DMD)

Patients and caregivers
face many obstacles

DMD’s progressive and degenerative nature leads to considerable disease burden^1,2

Gene therapy may provide a potential path forward

DMD care and management impact families

DMD is associated with a significant burden, from both a lifestyle and socioeconomic perspective:

DMD is typically
inherited

DMD is the most common hereditary neuromuscular disease⁸:

Journey to Diagnosis