2025
Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus
Oskoui M, Caller T, Parsons J, Servais L, Butterfield R, Bharadwaj J, Rose S, Tolchin B, Puskala Hamel K, Silsbee H, Dowling J. Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus. Neurology 2025, 104: e213604. PMID: 40367405, DOI: 10.1212/wnl.0000000000213604.Peer-Reviewed Original ResearchConceptsDuchenne muscular dystrophyFood and Drug AdministrationClinical trialsImmune-related side effectsMuscular dystrophyFood and Drug Administration approvalFunctional motor outcomePhase 3 clinical trialsTreatment groupsNorth Star Ambulatory Assessment scoresUS Food and Drug AdministrationMotor outcomeClinical trial dataRisk of biasClass I studiesGene therapyTreated patientsAmerican Academy of NeurologyLiver toxicityPrimary outcomeLiver injurySide effectsDrug AdministrationSafety outcomesDose exposureCardiac treatment for Duchenne muscular dystrophy: consensus recommendations from the ACTION muscular dystrophy committee.
Esteso P, Auerbach S, Bansal N, Harris R, Soslow J, Birnbaum B, Conway J, Cripe L, Nandi D, Hayes E, Gambetta K, Hall E, Hsu D, Kaufman B, Rosenthal D, Kirmani S, Ploutz M, Lal A, Peng D, Villa C, Shugh S, Wittlieb-Weber C, Shih R. Cardiac treatment for Duchenne muscular dystrophy: consensus recommendations from the ACTION muscular dystrophy committee. Cardiology In The Young 2025, 35: 770-775. PMID: 40012319, DOI: 10.1017/s1047951125000587.Peer-Reviewed Original ResearchDuchenne muscular dystrophyCardiac medicationsMuscular dystrophyCardiac careAdvanced Cardiac Therapies Improving Outcomes NetworkManagement of Duchenne muscular dystrophyImprove cardiac outcomesLoss of dystrophinAmerican College of CardiologyOptimal therapeutic efficacyExpert opinion statementsAmerican Heart AssociationCardiac outcomesImprove cardiac prognosisCardiomyopathy progressionTherapeutic efficacyCardiac prognosisHeart AssociationDisease progressionCardiac treatmentConsensus recommendationsOutcomes NetworkAmerican CollegeDystrophyCardiomyopathy
2024
PCR1 The Development of a Comprehensive Repository of Patient-Reported Outcome Measures (PROMs) for Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
Malandrini F, Meregaglia M, Spataro C, D'amico A, Sansone V, Scopinaro A, Ciani O. PCR1 The Development of a Comprehensive Repository of Patient-Reported Outcome Measures (PROMs) for Spinal Muscular Atrophy and Duchenne Muscular Dystrophy. Value In Health 2024, 27: s503. DOI: 10.1016/j.jval.2024.10.3236.Peer-Reviewed Original ResearchPatient-reported outcome measuresDuchenne muscular dystrophyAntisense oligonucleotides and their applications in rare neurological diseases
McDowall S, Aung-Htut M, Wilton S, Li D. Antisense oligonucleotides and their applications in rare neurological diseases. Frontiers In Neuroscience 2024, 18: 1414658. PMID: 39376536, PMCID: PMC11456401, DOI: 10.3389/fnins.2024.1414658.Peer-Reviewed Original ResearchAntisense oligonucleotidesRare diseaseImpaired quality of lifeDuchenne muscular dystrophyRare neurological diseasesNeurological diseasesClinical trial designSpinal muscular atrophyRare conditionApplication of antisense oligonucleotidesHigh treatment costsTherapeutic antisense oligonucleotidesClinical trialsAnimal modelsMuscular dystrophyEffective treatmentQuality of lifeImpaired qualityMuscular atrophyAntisense oligomersTrial designTherapeutic validityTarget gene expressionDiseaseTreatment costs
2023
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy
Lek A, Wong B, Keeler A, Blackwood M, Ma K, Huang S, Sylvia K, Batista A, Artinian R, Kokoski D, Parajuli S, Putra J, Carreon C, Lidov H, Woodman K, Pajusalu S, Spinazzola J, Gallagher T, LaRovere J, Balderson D, Black L, Sutton K, Horgan R, Lek M, Flotte T. Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy. New England Journal Of Medicine 2023, 389: 1203-1210. PMID: 37754285, PMCID: PMC11288170, DOI: 10.1056/nejmoa2307798.Peer-Reviewed Original ResearchConceptsAcute respiratory distress syndromeDuchenne muscular dystrophyMuscular dystrophyAdvanced Duchenne muscular dystrophySevere diffuse alveolar damageDiffuse alveolar damageRespiratory distress syndromeMild cardiac dysfunctionT cell reactivityInnate immune reactionsVirus serotype 9Gene therapyAlveolar damagePericardial effusionDistress syndromeCardiac dysfunctionPostmortem examinationImmune reactionsRAAV gene therapyBody weightPatientsTherapySerotype 9Recombinant adenoDystrophy
2022
Current Practices in Treating Cardiomyopathy and Heart Failure in Duchenne Muscular Dystrophy (DMD): Understanding Care Practices in Order to Optimize DMD Heart Failure Through ACTION
Villa C, Auerbach SR, Bansal N, Birnbaum BF, Conway J, Esteso P, Gambetta K, Hall EK, Kaufman BD, Kirmani S, Lal AK, Martinez HR, Nandi D, O’Connor M, Parent JJ, Raucci FJ, Shih R, Shugh S, Soslow JH, Tunuguntla H, Wittlieb-Weber CA, Kinnett K, Cripe L. Current Practices in Treating Cardiomyopathy and Heart Failure in Duchenne Muscular Dystrophy (DMD): Understanding Care Practices in Order to Optimize DMD Heart Failure Through ACTION. Pediatric Cardiology 2022, 43: 977-985. PMID: 35024902, PMCID: PMC8756173, DOI: 10.1007/s00246-021-02807-7.Peer-Reviewed Original ResearchConceptsVentricular assist deviceDuchenne muscular dystrophyHeart failureTherapeutic approachesAdvanced Cardiac Therapies Improving Outcomes NetworkDMD patientsBeta-blocker therapyMuscular dystrophyImplantable cardioverter defibrillatorAldosterone antagonistsSystolic dysfunctionCardiology providersHolter monitoringPrimary preventionDestination therapyPediatric cardiologistsCardiac careLeading causeOutcomes NetworkCardioverter defibrillatorCardiac diseaseClinical careMuscle therapyEnzyme inhibitorsCare practices
2021
Advances in Treatments in Muscular Dystrophies and Motor Neuron Disorders
Roy B, Griggs R. Advances in Treatments in Muscular Dystrophies and Motor Neuron Disorders. Neurologic Clinics 2021, 39: 87-112. PMID: 33223091, DOI: 10.1016/j.ncl.2020.09.005.Peer-Reviewed Original ResearchConceptsMotor neuron disordersMuscular dystrophyGene therapyTreatment of muscular dystrophiesNeuronal disordersDuchenne muscular dystrophySpinal muscular atrophyClinical trialsTherapyDystrophyTherapeutic promiseMuscular atrophyDisease pathophysiologyAmyotrophic lateral sclerosisNew drugsDrugLateral sclerosisDiseaseTreatmentCost burdenDisordersDrug technologyReview advancesIncreased understandingPathophysiologySleep Breathing Disorders in Duchenne Muscular Dystrophy
Weiss P. Sleep Breathing Disorders in Duchenne Muscular Dystrophy. 2021, 225-234. DOI: 10.1007/978-3-030-57942-5_21.Peer-Reviewed Original ResearchProgressive respiratory muscle weaknessAbnormal sleep studyAggressive airway clearanceSymptoms of hypoventilationRespiratory muscle weaknessMaximal inspiratory pressureSleep breathing disordersBody mass indexDuchenne muscular dystrophyAwake SpO2Glucocorticoid therapyCorticosteroid useRespiratory failureAirway clearanceMass indexMechanical ventilationBreathing disordersInspiratory pressureMuscle weaknessVital capacitySleep studiesMajor causeThird decadeMuscular dystrophyHypoventilation
2020
Morpholino Oligomer-Induced Dystrophin Isoforms to Map the Functional Domains in the Dystrophin Protein
Li D, Adams A, Johnsen R, Fletcher S, Wilton S. Morpholino Oligomer-Induced Dystrophin Isoforms to Map the Functional Domains in the Dystrophin Protein. Molecular Therapy - Nucleic Acids 2020, 22: 263-272. PMID: 33230432, PMCID: PMC7516190, DOI: 10.1016/j.omtn.2020.08.019.Peer-Reviewed Original ResearchGenotype-phenotype correlationDuchenne muscular dystrophyDystrophin isoformsDystrophin expressionPre-messenger RNA splicingLack of genotype-phenotype correlationIn-frame deletionMuscular dystrophyExon-skipping strategyPeptide-conjugated phosphorodiamidate morpholino oligomersReading frameBecker muscular dystrophyRNA splicingPhosphorodiamidate morpholino oligomersSevere dystrophic pathologyExon deletionsFunctional proteinsSarcolemma stabilityExonDystrophic pathologyFunctional domainsDystrophin proteinAllelic disordersIntraperitoneal injectionMutations
2018
Precision Medicine through Antisense Oligonucleotide-Mediated Exon Skipping
Li D, Mastaglia F, Fletcher S, Wilton S. Precision Medicine through Antisense Oligonucleotide-Mediated Exon Skipping. Trends In Pharmacological Sciences 2018, 39: 982-994. PMID: 30282590, DOI: 10.1016/j.tips.2018.09.001.Peer-Reviewed Original ResearchConceptsSpinal muscular atrophyAntisense oligonucleotidesAntisense oligonucleotide-mediated exon skippingDuchenne MDTreat Duchenne muscular dystrophyExon skippingTherapeutic potential of antisense oligonucleotidesTargeted exon skippingPotential of antisense oligonucleotidesDuchenne muscular dystrophyPrecision medicineInherited rare diseaseClinical benefitRare diseaseMuscular dystrophyClinical implementationTherapeutic potentialMuscular atrophyAffected individualsAlternative splicingLethal mutationsDuchenneBecker casesExonMutations
2017
Predictors of Death in Adults With Duchenne Muscular Dystrophy–Associated Cardiomyopathy
Cheeran D, Khan S, Khera R, Bhatt A, Garg S, Grodin JL, Morlend R, Araj FG, Amin AA, Thibodeau JT, Das S, Drazner MH, Mammen PPA. Predictors of Death in Adults With Duchenne Muscular Dystrophy–Associated Cardiomyopathy. Journal Of The American Heart Association 2017, 6: e006340. PMID: 29042427, PMCID: PMC5721845, DOI: 10.1161/jaha.117.006340.Peer-Reviewed Original ResearchConceptsDuchenne muscular dystrophyDMD patientsPrognostic factorsDMD populationCardiac biomarkersHigh-risk cardiovascular populationLower body mass indexAdult DMD patientsHeart failure medicationsPredictors of deathAlanine aminotransferase levelsElevated cardiac biomarkersPoor prognostic factorMaximum inspiratory pressureBody mass indexElectronic medical recordsCardiomyopathy clinicMedian followAminotransferase levelsBaseline characteristicsCardiovascular populationRetrospective cohortConsecutive patientsMass indexWorse prognosis
2015
Generation of Induced Pluripotent Stem Cells From Patients With Duchenne Muscular Dystrophy and Their Induction to Cardiomyocytes
Hashimoto A, Naito AT, Lee JK, Kitazume-Taneike R, Ito M, Yamaguchi T, Nakata R, Sumida T, Okada K, Nakagawa A, Higo T, Kuramoto Y, Sakai T, Tominaga K, Okinaga T, Kogaki S, Ozono K, Miyagawa S, Sawa Y, Sakata Y, Morita H, Umezawa A, Komuro I. Generation of Induced Pluripotent Stem Cells From Patients With Duchenne Muscular Dystrophy and Their Induction to Cardiomyocytes. International Heart Journal 2015, 57: 112-117. PMID: 26673445, DOI: 10.1536/ihj.15-376.Peer-Reviewed Original ResearchConceptsDuchenne muscular dystrophyDMD patientsMuscular dystrophyYears of ageIPS cell-derived cardiomyocytesPatient-specific iPS cellsDMD cardiomyopathyCardiac dysfunctionCurative treatmentCell-derived cardiomyocytesT lymphocytesPatientsCardiac phenotypeSendai virus vectorCardiac muscleSkeletal muscleDystrophin defectsInduced pluripotent stem cellsCardiomyocytesCell linesStem cellsDystrophin proteinDystrophyPluripotent stem cellsMuscle
2011
Myogenic Akt signaling attenuates muscular degeneration, promotes myofiber regeneration and improves muscle function in dystrophin-deficient mdx mice
Kim M, Kay D, Rudra R, Chen B, Hsu N, Izumiya Y, Martinez L, Spencer M, Walsh K, Grinnell A, Crosbie R. Myogenic Akt signaling attenuates muscular degeneration, promotes myofiber regeneration and improves muscle function in dystrophin-deficient mdx mice. Human Molecular Genetics 2011, 20: 1324-1338. PMID: 21245083, PMCID: PMC3049356, DOI: 10.1093/hmg/ddr015.Peer-Reviewed Original ResearchConceptsMdx miceMyofiber regenerationMuscular dystrophyTreatment of mdx miceDystrophin-deficient mdx miceMuscle functionEndogenous compensatory mechanismsExtensor digitorum longus muscleChildhood muscular dystrophyWild-type musclesDuchenne muscular dystrophyResponse relative to controlsGrip strength testImprove muscle functionAkt Signaling PathwayDystrophin-glycoprotein complexDystrophin deficiencyOverexpression of AktExtrasynaptic sarcolemmaMuscle wastingHistopathological measurementsDystrophin geneMdxRelative to controlsMuscle degeneration
2010
A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin
Erturk O, Bilguvar K, Korkmaz B, Bayri Y, Bayrakli F, Arlier Z, Ozturk AK, Yalcinkaya C, Tuysuz B, State MW, Gunel M. A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin. American Journal Of Medical Genetics Part A 2010, 152A: 1039-1042. PMID: 20358624, DOI: 10.1002/ajmg.a.33312.Peer-Reviewed Original Research
2009
Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl
Jiang Y, Fang P, Adesina AM, Furman P, Johnston JJ, Biesecker LG, Brown CW. Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl. American Journal Of Medical Genetics Part A 2009, 149A: 1249-1252. PMID: 19449433, PMCID: PMC2819399, DOI: 10.1002/ajmg.a.32863.Peer-Reviewed Original ResearchConceptsCardio-dental syndromeDuchenne muscular dystrophyMuscular dystrophyElevated serum creatine phosphokinaseDigital anomaliesAtrial septal defectSerum creatine phosphokinaseYears of ageStudy of lymphocytesCongenital heart defectsMultiple congenital anomaliesMutation analysisNovo frameshift mutationCanine radiculomegalyWestern blot analysisClinical featuresMuscle weaknessSeptal defectCongenital anomaliesSkewed X-inactivationCalf musclesCreatine phosphokinaseMuscular hypotoniaHeart defectsSevere end
2008
Myogenic Akt signaling upregulates the utrophin–glycoprotein complex and promotes sarcolemma stability in muscular dystrophy
Peter A, Ko C, Kim M, Hsu N, Ouchi N, Rhie S, Izumiya Y, Zeng L, Walsh K, Crosbie R. Myogenic Akt signaling upregulates the utrophin–glycoprotein complex and promotes sarcolemma stability in muscular dystrophy. Human Molecular Genetics 2008, 18: 318-327. PMID: 18986978, PMCID: PMC2638781, DOI: 10.1093/hmg/ddn358.Peer-Reviewed Original ResearchConceptsMuscle wastingMuscular dystrophyAkt signalingExpression of utrophinProgressive muscle wastingDuchenne muscular dystrophyModulation of AktFunction of dystrophinSarcolemma stabilityPhysiological compensatory mechanismsDystrophin mutationsMouse modelSarcolemma damageDisease outcomeIncreased AktSarcolemma membraneDystrophyCompensatory mechanismsSignaling pathwayDystrophinSarcolemmaUtrophin-glycoprotein complexAkt
2003
Sequence-specific modification of genomic DNA by small DNA fragments
Gruenert DC, Bruscia E, Novelli G, Colosimo A, Dallapiccola B, Sangiuolo F, Goncz KK. Sequence-specific modification of genomic DNA by small DNA fragments. Journal Of Clinical Investigation 2003, 112: 637-641. PMID: 12952908, PMCID: PMC182219, DOI: 10.1172/jci19773.Peer-Reviewed Original ResearchConceptsSmall fragment homologous replacementSequence-specific modificationSmall DNA fragmentsGenomic DNADNA fragmentsEndogenous genomic DNADuchenne muscular dystrophyTherapeutic modalitiesCystic fibrosisHomologous replacementGenomic editingMuscular dystrophyGenetic lociMouse cellsUnderlying mechanismPhenotypic analysisSpecific modificationsDNA
1985
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.
de Martinville B, Kunkel L, Bruns G, Morlé F, Koenig M, Mandel J, Horwich A, Latt S, Gusella J, Housman D. Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. American Journal Of Human Genetics 1985, 37: 235-49. PMID: 2984924, PMCID: PMC1684559.Peer-Reviewed Original ResearchConceptsX chromosomeHuman X chromosome short armSomatic cell hybrid linesMolecular markersShort armX chromosome short armHuman X chromosomeChromosome short armDNA sequence mapGene dosage studiesOrnithine transcarbamylase geneAbnormal X chromosomeDNA sequencesDNA fragmentsHybrid linesChromosomesSequence mapsMuscular dystrophyStructural rearrangementsHuman lymphoblastsBand Xp21Duchenne muscular dystrophyGenesLociXp21
1984
Human Ornithine Transcarbamylase Locus Mapped to Band Xp21.1 Near the Duchenne Muscular Dystrophy Locus
Lindgren V, de Martinville B, Horwich A, Rosenberg L, Francke U. Human Ornithine Transcarbamylase Locus Mapped to Band Xp21.1 Near the Duchenne Muscular Dystrophy Locus. Science 1984, 226: 698-700. PMID: 6494904, DOI: 10.1126/science.6494904.Peer-Reviewed Original ResearchConceptsMitochondrial enzyme ornithine transcarbamylaseHuman ornithine transcarbamylase geneSitu hybridization experimentsOrnithine transcarbamylase geneGene mapsX chromosomeHybridization experimentsDuchenne muscular dystrophy locusShort armGenesX chromosome abnormalitiesMuscular dystrophyCell linesOrnithine transcarbamylaseLociChromosome abnormalitiesCarrier detectionChromosomesDuchenne muscular dystrophyXp21.1DNATranscarbamylaseProbeDystrophyOrnithine transcarbamylase deficiency
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