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Duchenne muscular dystrophy

Duchenne muscular dystrophy is a severe type of muscular dystrophy that primarily affects boys

Prevalence

1 in 3,500 to 1 in 5,000 newborn boys

Estimated 15,000–20,000 individuals currently
living with DMD

US Estimated

Age of Onset

Childhood

ICD-10

G71.0

Inheritance Pattern

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

Rare View

Duchenne's muscular dystrophy is a severe type of muscular dystrophy that primarily affects boys.

5 Facts you should know

FACT

1

Muscle weakness usually begins around the age of four, and worsens quickly

FACT

2

A classic sign of DMD is trouble getting up from a lying or sitting position

FACT

3

Another characteristic sign of DMD is pseudohypertrophy of the muscles of the tongue, calves, buttocks, and shoulders

FACT

4

The life expectancy is 26; however, some patients may live into their 30s or 40s

FACT

5

The most common direct cause of death in people with DMD is respiratory failure

Interest over time

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Duchenne’s Muscular Dystrophy is also known as...

Duchenne’s Muscular Dystrophy is also known as:

  • DMD
  • Duchenne dystrophy

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Common signs & symptoms

Delayed motor milestones

Progressive proximal muscle weakness

Difficulty running, climbing stairs, or rising from the floor

Frequent falls

Calf pseudohypertrophy

Gowers’ sign

Later complications include

  • Loss of ambulation (typically in adolescence without treatment)
  • Cardiomyopathy
  • Respiratory insufficiency
  • Scoliosis

Current treatments

While there is no cure, treatment aims to slow disease progression and manage complications.

Corticosteroids (standard of care)

Mutation-specific therapies

  • Exon-skipping therapies
  • Read-through therapies (select mutations)

Cardiac care

  • ACE inhibitors, beta blockers

Respiratory support

  • Noninvasive ventilation as disease progresses

Supportive care

  • Physical therapy
  • Orthopedic management
  • Nutritional support

Drug therapies

  • Agamree (vamorolone)
  • Amondys 45 (casimersen)
  • Duvyzat (givinostat)
  • Elevidys (delandistrogene
  • moxeparvovec)
  • Emflaza (deflazacort)
  • Exondys 51 (eteplirsen)
  • Viltepso (viltolarsen)
  • Vyondys 53 (golodirsen)

Clinical trials

TitleDescriptionPhasesStatusInterventionsMore Information
A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Non-Ambulatory and Ambulatory Participants With Duchenne Muscular Dystrophy (DMD)The study will evaluate the safety and efficacy of delandistrogene moxeparvovec gene transfer therapy in non-ambulatory and ambulatory males with DMD. This is a randomized, double-blind, placebo-controlled 2-part study. Participants will be in the study for approximately 128 weeks. All participants...Phase 3ActiveGenetic: delandistrogene moxeparvovec
Genetic: placebo		More Info
Study to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular DystrophyThe study will evaluate the safety and efficacy of gene therapy in boys with DMD. It is a randomized, double-blind, placebo-controlled study with two thirds of participants assigned to gene therapy. The one third of participants who are randomized to the placebo arm will have an opportunity for trea...Phase 3ActiveGenetic: PF-06939926
Other: Placebo		More Info
A Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 351 in Participants With Duchenne Muscular DystrophyThe purpose of this study is to test the safety and tolerability of BMN 351 in participants with Duchenne Muscular Dystrophy (DMD) with a genetic mutation amenable to exon 51 skipping.Phase 1, Phase 2RecruitingDrug: BMN 351More Info
PBGENE-DMD Phase 1/2a Safety and Preliminary Efficacy Study in Duchenne Muscular Dystrophy (FUNCTION-DMD)The purpose of this Phase 1/2a trial is to evaluate the safety, tolerability, and preliminary efficacy of PBGENE-DMD in patients with DMD harboring mutations amenable to excision of exons 45-55. Given the limitations of existing therapeutic strategies, PBGENE-DMD represents a novel, innovative appro...Phase 1, Phase 2Not yet recruitingBiological: PBGENE-DMD (IV)More Info
Natural History of Duchenne Muscular DystrophyBaseline Study on Duchenne Muscular Dystrophy (DMD) in view to collect data on the natural disease course in a cohort in young male subjects aged from 4 to 9 Years over a period of 6 to 36 months using disease appropriate evaluations.RecruitingMore Info
A Gene Transfer Therapy Study to Evaluate the Safety of and Expression From Delandistrogene Moxeparvovec (SRP-9001) in Participants With Duchenne Muscular Dystrophy (DMD)This is an open-label gene transfer therapy study evaluating the safety of and expression from delandistrogene moxeparvovec in participants with DMD. The maximum participant duration for this study is 156 weeks.Phase 1RecruitingGenetic: delandistrogene moxeparvovecMore Info
Sodium/Glucose Cotransporter-2 Inhibitors (SGLT2i) Therapy in Duchenne CardiomyopathyThis is a pharmacokinetic study (PK Study) to better understand empagliflozin dosing in pediatric Duchenne muscular dystrophy patients. Empagliflozin is currently used off-label in this population due to the mortality benefits seen in adult cardiomyopathy and heart failure. Investigators will perfor...Phase 1Not yet recruitingDrug: SGLT-2 inhibitor
Drug: SGLT2 inhibitor		More Info
Microdystrophin Gene Transfer Study in Adolescents and Children With DMDThis is a controlled, open-label, single-ascending dose study to evaluate the safety and tolerability of SGT-001 in adolescents and children with Duchenne muscular dystrophy (DMD). Participants will receive a single intravenous (IV) infusion of SGT-001 and will be followed for approximately 5 years....Phase 1, Phase 2ActiveGenetic: SGT-001More Info
A Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 44 Skipping to Evaluate the Safety and Efficacy of ENTR-601-44This is a study of the investigational medicine ENTR-601-44 in participants who have Duchenne muscular dystrophy (DMD), a rare genetic condition.

The researchers want to: Test how safe ENTR-601-44 is, learn about any side effects, and look at the potential positive effects of ENTR-601-44, compared...		Phase 1, Phase 2RecruitingDrug: ENTR-601-44
Drug: ENTR-601-44 - matching placebo		More Info

References:

Emery AEH. The muscular dystrophies. Lancet. 2002;359(9307):687–695. doi:10.1016/S0140-6736(02)07815-7 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. doi:10.1016/S1474-4422(09)70271-6 Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010;9(2):177–189. doi:10.1016/S1474-4422(09)70272-8Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51(6):919–928. doi:10.1016/0092-8674(87)90579-4

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