scholarly journals Micro-Dystrophin Gene Therapy Goes Systemic in Duchenne Muscular Dystrophy Patients

2018 ◽  
Vol 29 (7) ◽  
pp. 733-736 ◽  
Author(s):  
Dongsheng Duan
Keyword(s):  
Gene Therapy ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Dystrophin Gene

SGT-001 Micro-dystrophin gene therapy for Duchenne muscular dystrophy

2017 ◽  
Vol 27 ◽  
pp. S188 ◽  
Author(s):  
J. Schneider ◽  
J. Gonzalez ◽  
K. Brown ◽  
D. Golebiowski ◽  
V. Ricotti ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Dystrophin Gene

scholarly journals Contractile Activity of Myotubes Derived from Human Induced Pluripotent Stem Cells: A Model of Duchenne Muscular Dystrophy

Cells ◽  
2021 ◽  
Vol 10 (10) ◽  
pp. 2556
Author(s):  
Kantaro Yoshioka ◽  
Akira Ito ◽  
Masanobu Horie ◽  
Kazushi Ikeda ◽  
Sho Kataoka ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Contractile Activity ◽  
Dystrophin Gene ◽  
Ips Cells ◽  
Electrical Pulse ◽  
Electrical Pulse Stimulation ◽  
Induced Pluripotent ◽  
Pulse Stimulation

Duchenne muscular dystrophy (DMD) is a genetic disorder that results from deficiency of the dystrophin protein. In recent years, DMD pathological models have been created using induced pluripotent stem (iPS) cells derived from DMD patients. In addition, gene therapy using CRISPR-Cas9 technology to repair the dystrophin gene has been proposed as a new treatment method for DMD. However, it is not known whether the contractile function of myotubes derived from gene-repaired iPS cells can be restored. We therefore investigated the maturation of myotubes in electrical pulse stimulation culture and examined the effect of gene repair by observing the contractile behaviour of myotubes. The contraction activity of myotubes derived from dystrophin-gene repaired iPS cells was improved by electrical pulse stimulation culture. The iPS cell method used in this study for evaluating muscle contractile activity is a useful technique for analysing the mechanism of hereditary muscular disease pathogenesis and for evaluating the efficacy of new drugs and gene therapy.

scholarly journals Assessment of rAAVrh.74.MHCK7.micro-dystrophin Gene Therapy Using Magnetic Resonance Imaging in Children With Duchenne Muscular Dystrophy

2021 ◽  
Vol 4 (1) ◽  
pp. e2031851
Author(s):  
Rebecca J. Willcocks ◽  
Sean C. Forbes ◽  
Glenn A. Walter ◽  
Lee Sweeney ◽  
Louise R. Rodino-Klapac ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Gene Therapy ◽  
Duchenne Muscular Dystrophy ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Dystrophin Gene ◽  
Resonance Imaging

scholarly journals Dystrophin and mini-dystrophin quantification by mass spectrometry in skeletal muscle for gene therapy development in Duchenne muscular dystrophy

Gene Therapy ◽  
2021 ◽  
Author(s):  
Vahid Farrokhi ◽  
Jason Walsh ◽  
Joe Palandra ◽  
Joanne Brodfuehrer ◽  
Teresa Caiazzo ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Gene Therapy ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Biceps Femoris ◽  
Dystrophin Gene ◽  
Limit Of Quantification ◽  
Post Dose ◽  
Validation Data ◽  
Dystrophin Expression

AbstractDuchenne muscular dystrophy (DMD) is a lethal, degenerative muscle disorder caused by mutations in the DMD gene, leading to severe reduction or absence of the protein dystrophin. Gene therapy strategies that aim to increase expression of a functional dystrophin protein (mini-dystrophin) are under investigation. The ability to accurately quantify dystrophin/mini-dystrophin is essential in assessing the level of gene transduction. We demonstrated the validation and application of a novel peptide immunoaffinity liquid chromatography–tandem mass spectrometry (IA-LC-MS/MS) assay. Data showed that dystrophin expression in Becker muscular dystrophy and DMD tissues, normalized against the mean of non-dystrophic control tissues (n = 20), was 4–84.5% (mean 32%, n = 20) and 0.4–24.1% (mean 5%, n = 20), respectively. In a DMD rat model, biceps femoris tissue from dystrophin-deficient rats treated with AAV9.hCK.Hopti-Dys3978.spA, an adeno-associated virus vector containing a mini-dystrophin transgene, showed a dose-dependent increase in mini-dystrophin expression at 6 months post-dose, exceeding wildtype dystrophin levels at high doses. Validation data showed that inter- and intra-assay precision were ≤20% (≤25% at the lower limit of quantification [LLOQ]) and inter- and intra-run relative error was within ±20% (±25% at LLOQ). IA-LC-MS/MS accurately quantifies dystrophin/mini-dystrophin in human and preclinical species with sufficient sensitivity for immediate application in preclinical/clinical trials.

scholarly journals Micro-dystrophin gene therapy prevents heart failure in an improved Duchenne muscular dystrophy cardiomyopathy mouse model

JCI Insight ◽  
2021 ◽  
Vol 6 (7) ◽  
Author(s):  
Zachary M. Howard ◽  
Lisa E. Dorn ◽  
Jeovanna Lowe ◽  
Megan D. Gertzen ◽  
Pierce Ciccone ◽  
...  
Keyword(s):  
Heart Failure ◽  
Gene Therapy ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Model ◽  
Dystrophin Gene ◽  
Duchenne Muscular Dystrophy Cardiomyopathy

scholarly journals Dual AAV Gene Therapy for Duchenne Muscular Dystrophy with a 7-kb Mini-Dystrophin Gene in the Canine Model

2018 ◽  
Vol 29 (3) ◽  
pp. 299-311 ◽  
Author(s):  
Kasun Kodippili ◽  
Chady H. Hakim ◽  
Xiufang Pan ◽  
Hsiao T. Yang ◽  
Yongping Yue ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Dystrophin Gene ◽  
Canine Model
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