Related Experiment Video

Updated: Jul 4, 2026

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
05:16

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Published on: May 7, 2020

Duchenne Muscular Dystrophy and Delandistrogene Moxeparvovec Gene Therapy in Children: A Systematic Review and

Breno Bopp Antonello1, Fabio Cargnelutti Fontoura1, Anna Luiza Braga Albuquerque2

  • 1Franciscan University, Santa Maria, Brazil.

Neurology. Genetics
|July 3, 2026
PubMed

Insights

Delandistrogene moxeparvovec gene therapy shows promise for Duchenne muscular dystrophy (DMD) in young boys. The treatment improved key functional outcomes and dystrophin levels in a recent meta-analysis.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Duchenne muscular dystrophy (DMD) is a severe genetic disorder causing progressive muscle degeneration.
  • Current treatments offer limited efficacy, necessitating novel therapeutic approaches.
  • Delandistrogene moxeparvovec is an investigational gene therapy aiming to restore dystrophin production.

Purpose of the Study:

  • To systematically review and meta-analyze the efficacy of delandistrogene moxeparvovec in ambulatory pediatric patients with DMD.
  • To evaluate the impact of the gene therapy on functional outcomes and dystrophin expression.

Main Methods:

  • Systematic search of Cochrane, PubMed, and Embase for relevant randomized controlled trials (RCTs) and cohort studies.
  • Inclusion criteria: ambulatory male children (4-8 years) with DMD receiving delandistrogene moxeparvovec.
  • Primary outcomes: NSAA score, 10-meter walk/run test (10MWR), time to rise (TTR), and dystrophin expression.

Main Results:

  • Analysis included 302 participants from 4 studies (2 RCTs), with 107 receiving delandistrogene moxeparvovec.
  • Significant improvements observed in NSAA scores (p=0.04) and TTR (p<0.01) at 1 year.
  • Dystrophin content significantly increased (p<0.01), with improved 10MWR (p=0.02) in sensitivity analysis.

Conclusions:

  • Delandistrogene moxeparvovec demonstrated efficacy in improving functional outcomes for ambulatory pediatric DMD patients.
  • Despite high heterogeneity, the results are promising for this gene therapy.
  • Further long-term RCTs are required to confirm safety and efficacy.
Abstract

More Related Videos

Adeno-Associated Virus-Mediated Delivery of CRISPR for Cardiac Gene Editing in Mice09:00

Adeno-Associated Virus-Mediated Delivery of CRISPR for Cardiac Gene Editing in Mice

Published on: August 2, 2018

Purification and Transplantation of Myogenic Progenitor Cell Derived Exosomes to Improve Cardiac Function in Duchenne Muscular Dystrophic Mice08:13

Purification and Transplantation of Myogenic Progenitor Cell Derived Exosomes to Improve Cardiac Function in Duchenne Muscular Dystrophic Mice

Published on: April 10, 2019

Related Concept Videos

Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.