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Medication

Medication Summary

Several agents have shown promise in management of Duchenne muscular dystrophy (MD). The mainstay of therapy has been the steroids; however, the lack of prolonged efficacy and the attendant adverse effects of higher-dose steroids limit their use. Deflazacort, an oxazoline derivative of prednisolone, may offer therapeutic efficacy with fewer adverse effects.

The first gene therapy, delandistrogene moxeparvovec (Elevidys), gained accelerated FDA approval in June 2023 for the treatment of Duchenne MD in ambulant pediatric patients aged 4-5 years with a confirmed mutation in the DMD gene.

The approval of eteplirsen, the first phosphorodiamidate morphino oligomer (PMO), provides an addition to the therapeutic armamentarium; however, continued approval of eteplirsen is contingent on postmarketing performance data. A second such agent, golodirsen, was subsequently approved. Other morpholino antisense oligomers, viltolarsen and casimersen, have also been approved by the FDA for use in the United States.^{[36, 37, 38, 39]}

Class Summary

Glucocorticoid drugs delay the cytotoxic damage of MD to the necrosing muscle cells.

Prednisone (Deltasone, Prednisone Intensol, Rayos)

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Prednisone exhibits beneficial effects in treatment of Duchenne MD in dosages ranging from 0.75 mg/kg/day to 1.5 mg/kg/day. Therapeutic effects are believed to be mediated through suppression of cytotoxic T-cell expression from necrotic muscles. Response to therapy may not last beyond several months, and adverse effects (eg, rapid weight gain, osteoporosis, myopathy, and growth retardation) limit its use.

Deflazacort (Emflaza)

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Deflazacort, an oxazoline derivative of prednisolone, represents one of the newer corticosteroids for Duchenne MD. The FDA-approved dose is 0.9 mg/kg/day. It elicits a therapeutic response similar to that of prednisone.

Class Summary

Dissociative steroids retain subactivities associated with efficacy (transrepression, physicochemical membrane effects, synchronization of tissue remodeling) similar to glucocorticoids, but dissociates efficacy from other subactivities associated with some detrimental side effects.

Vamorolone (Agamree)

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Vamorolone is a first-in-class steroidal anti-inflammatory drug that differs from conventional glucocorticoids in its lack of an 11-beta hydroxy-carbonyl group. Removal of this contact site with the glucocorticoid receptor significantly alters structure and activity associations. It is indicated treatment of Duchenne muscular dystrophy (DMD) in patients aged 2 years and older.

Class Summary

These agents bind to various exons (eg, 45, 51, 53) of dystrophin pre-mRNA, resulting in exclusion of the particular exon (ie, skipping) during mRNA processing. Exon skipping is intended to allow production of an internally truncated dystrophin protein in patients with genetic mutations that are amenable to specific exon skipping.

Eteplirsen (Exondys 51)

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Eteplirsen is a phosphorodiamidate morphino oligomer (PMO), the first of its class. It is indicated for Duchenne MD in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping. It is administered as a once-weekly IV infusion.

Golodirsen (Vyondys 53)

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A second PMO was approved for Duchenne MD in patients who have a confirmed mutation of the dystrophin gene that is amenable to exon 53 skipping.

Viltolarsen (Viltepso)

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Antisense oligonucleotide of the phosphorodiamidate morpholino oligomer (PMO) subclass that binds to exon 53 of dystrophin pre-mRNA. This results in exclusion of this exon during mRNA processing in patients with genetic mutations that are amenable to exon 53 skipping. It is indicated for Duchenne muscular dystrophy (DMD) in patients with a confirmed DMD gene mutation that is amenable to exon 53 skipping.

Casimersen (Amondys 45)

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Casimersen is an antisense oligonucleotide of the phosphorodiamidate morpholino oligomer (PMO) subclass. PMO binds to exon 45 of dystrophin pre-mRNA, resulting in exclusion of this exon during mRNA processing in patients with genetic mutations that are amenable to exon 53 skipping. Casimersen is indicated for Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation amenable to exon 45 skipping.

Class Summary

Gene therapies are designed to treat the underlying genetic cause of Duchenne MD: mutations in the dystrophin gene that result in the lack of dystrophin protein.

Delandistrogene moxeparvovec (Elevidys)

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One-time gene therapy indicated for Duchenne MD in ambulant pediatric patients aged 4-5 years with a confirmed mutation in the DMD gene.

Questions

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Media Gallery

Schematic of the sarcomere with labeled molecular components that are known to cause limb-girdle muscular dystrophy or myofibrillar myopathy. Mutations in actin and nebulin cause the congenital myopathy nemaline rod myopathy, and the mutations in myosin cause familial hypertrophic cardiomyopathy. Image courtesy of Dr F. Schoeni-Affoher, University of Friberg, Switzerland.
Gomori trichrome–stained section in patient with myofibrillar myopathy. Note the abnormal accumulations of blue-red material in several muscle fibers.
Left: The photomicrograph is a muscle biopsy with normal emerin immunostaining. Right: The micrograph is from a patient with X-linked Emery-Dreifuss muscular dystrophy. Note the absence of nuclear staining as well as the hypertrophied and atrophied muscle fibers.

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Author

Twee T Do, MD Clinical Faculty, Rocky Vista University College of Osteopathic Medicine; Attending Surgeon, Advanced Orthopedics

Twee T Do, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Academy of Pediatrics, Colorado Medical Society, Scoliosis Research Society, Pediatric Orthopaedic Society of North America

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

George H Thompson, MD Director of Pediatric Orthopedic Surgery, Rainbow Babies and Children’s Hospital, University Hospitals Case Medical Center, and MetroHealth Medical Center; Professor of Orthopedic Surgery and Pediatrics, Case Western Reserve University School of Medicine

George H Thompson, MD is a member of the following medical societies: American Orthopaedic Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons

Disclosure: Received none from OrthoPediatrics for consulting; Received salary from Journal of Pediatric Orthopaedics for management position; Received none from SpineForm for consulting; Received none from SICOT for board membership.

Chief Editor

Jeffrey D Thomson, MD Professor of Orthopedic Surgery, University of Connecticut School of Medicine; Orthopedic Surgeon, Connecticut Children’s Medical Center

Jeffrey D Thomson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, Pediatric Orthopaedic Society of North America, Scoliosis Research Society

Disclosure: Nothing to disclose.

Additional Contributors

Charles T Mehlman, DO, MPH Professor of Pediatrics and Pediatric Orthopedic Surgery, Division of Pediatric Orthopedic Surgery, Director, Musculoskeletal Outcomes Research, Cincinnati Children's Hospital Medical Center

Charles T Mehlman, DO, MPH is a member of the following medical societies: American Academy of Pediatrics, American Fracture Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Medical Association, American Orthopaedic Foot and Ankle Society, American Osteopathic Association, Arthroscopy Association of North America, North American Spine Society, Ohio State Medical Association

Disclosure: Nothing to disclose.

Muscular Dystrophy Medication

Medication Summary

Corticosteroids

Class Summary

Prednisone (Deltasone, Prednisone Intensol, Rayos)

Prednisone (Deltasone, Prednisone Intensol, Rayos)

Deflazacort (Emflaza)

Deflazacort (Emflaza)

Dissociative Steroids

Class Summary

Vamorolone (Agamree)

Vamorolone (Agamree)

Morpholino Antisense Oligomers, Neurology

Class Summary

Eteplirsen (Exondys 51)

Eteplirsen (Exondys 51)

Golodirsen (Vyondys 53)

Golodirsen (Vyondys 53)

Viltolarsen (Viltepso)

Viltolarsen (Viltepso)

Casimersen (Amondys 45)

Casimersen (Amondys 45)

Gene Therapies, Neurologics

Class Summary

Delandistrogene moxeparvovec (Elevidys)

Delandistrogene moxeparvovec (Elevidys)

Muscular Dystrophy Medication

Medication Summary

Corticosteroids

Class Summary

Prednisone (Deltasone, Prednisone Intensol, Rayos)

Deflazacort (Emflaza)

Dissociative Steroids

Class Summary

Vamorolone (Agamree)

Morpholino Antisense Oligomers, Neurology

Class Summary

Eteplirsen (Exondys 51)

Golodirsen (Vyondys 53)

Viltolarsen (Viltepso)

Casimersen (Amondys 45)

Gene Therapies, Neurologics

Class Summary

Delandistrogene moxeparvovec (Elevidys)

References

Tables

Contributor Information and Disclosures

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