Results 1 to 10 of about 166,629 (153)

Gene-replacement therapy in neurodevelopmental disorders: progress and challenges [PDF]

The Journal of Clinical Investigation
Heterozygous loss-of-function variants in the SLC6A1 gene, encoding GAT1, which is the main GABA transporter in the brain, lead to a broad spectrum of neuropsychiatric and neurodevelopmental disorders including epilepsy, developmental delay, intellectual
Holger Lerche, Ulrike B.S. Hedrich, Thomas V. Wuttke   +2 more
doaj   +4 more sources

Gene Replacement Therapy: A Primer for the Health-system Pharmacist. [PDF]

J Pharm Pract, 2020
Purpose: Comprehensive review of gene replacement therapy with guidance and expert opinion on handling and administration for pharmacists. Summary: There are currently ∼2600 gene therapy clinical trials worldwide and 4 Food and Drug ...
Petrich J, Marchese D, Jenkins C, Storey M, Blind J.   +4 more
europepmc   +5 more sources

Gene Replacement Therapies for Genodermatoses: A Status Quo [PDF]

Frontiers in Genetics, 2021
Epidermolysis bullosa (EB) is a genodermatosis, characterized by the formation of extended blisters and lesions on the skin and mucous membranes upon minimal mechanical trauma.
Ulrich Koller, Johann W. Bauer
doaj   +3 more sources

Novel AAV843 Vector-Mediated Gene Replacement Therapy Rescues Primary Hyperoxaluria Type I in Mice [PDF]

Cells
Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder resulting from mutations in the alanine–glyoxylate aminotransferase (AGXT) gene, leading to excessive systemic deposition of calcium oxalate.
Jingjia Zhang, Ye Yin, Baowei Ji, Manqing Sun, Yuanyan Jiang, Xiaohui Wu, Xiao Xiao, Qian Shen, Xia Wu, Hong Xu   +9 more
doaj   +2 more sources

Advances in AAV-mediated gene replacement therapy for pediatric monogenic neurological disorders [PDF]

Molecular Therapy: Methods & Clinical Development
Pediatric monogenetic diseases encompass a spectrum of debilitating neurological disorders that affect infants and children, often resulting in profound cognitive and motor impairments.
Livia Zhou, Yafeng Wang, Yiran Xu, Yaodong Zhang, Changlian Zhu   +4 more
doaj   +2 more sources

Health economic evaluation of gene replacement therapies: methodological issues and recommendations [PDF]

Journal of Market Access & Health Policy, 2020
Objective: To provide recommendations for addressing previously identified key challenges in health economic evaluations of Gene Replacement Therapies (GRTs), including: 1) the assessment of clinical effectiveness; 2) the valuation of health outcomes; 3)
Samuel Aballéa, Katia Thokagevistk, Rimma Velikanova, Steven Simoens, Lieven Annemans, Fernando Antonanzas, Pascal Auquier, Clément François, Frank-Ulrich Fricke, Daniel Malone, Aurélie Millier, Ulf Persson, Stavros Petrou, Omar Dabbous, Maarten Postma, Mondher Toumi   +15 more
doaj   +5 more sources

Long‐Lasting Auditory and Vestibular Recovery Following Gene Replacement Therapy in a Novel Usher Syndrome Type 1c Mouse Model [PDF]

Advanced Science
Usher syndrome type 1C (USH1C) is a genetic disorder caused by mutations in the USH1C gene, which encodes harmonin, a key component of the mechanoelectrical transduction complex in auditory and vestibular hair cells.
Weinan Du, Jun Huang, Aizhen Zhang, Fangfang Zhao, Tianwen Chen, Quinn M. McDermott, Tony Zheng, Haibo Wang, Rongli Zhang, Xiaolin Zhang, Jerome Allison, Hong Zhu, Wu Zhou, Qing Yin Zheng   +13 more
doaj   +2 more sources

Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4 [PDF]

Molecular Therapy: Nucleic Acids
Biallelic variations in the aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) gene cause Leber congenital amaurosis subtype 4 (LCA4), an autosomal recessive early-onset severe retinal dystrophy that leads to the rapid degeneration of retinal ...
Hali Sai, Bethany Ollington, Farah O. Rezek, Niuzheng Chai, Amelia Lane, Anastasios Georgiadis, James Bainbridge, Michel Michaelides, Almudena Sacristan-Reviriego, Pedro R.L. Perdigão, Amy Leung, Jacqueline van der Spuy   +11 more
doaj   +2 more sources

Preclinical studies of gene replacement therapy for CDKL5 deficiency disorder. [PDF]

Mol Ther
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a rare neurodevelopmental disorder caused by a mutation in the X-linked CDKL5 gene. CDKL5 is a serine/threonine kinase that is critical for axon outgrowth and dendritic morphogenesis as well as synapse formation, maturation, and maintenance.
Voronin G, Narasimhan J, Gittens J, Sheedy J, Lipari P, Peters M, DeMarco S, Cao L, Varganov Y, Kim MJ, Pear L, Fotouh E, Sinha S, Ray B, Wu MC, Yalamanchili P, Southgate C, Pick J, Saadipour K, Jung S, Lee J, Mollin A, Welch EM, Wu Z, Weetall M.   +24 more
europepmc   +3 more sources

Oral Nonviral Gene Delivery for Chronic Protein Replacement Therapy

Advanced Science, 2018
AbstractEfficient nonviral oral gene delivery offers an attractive modality for chronic protein replacement therapy. Herein, the oral delivery of insulin gene is reported by a nonviral vector comprising a copolymer with a high degree of substitution of branched polyethylenimine on chitosan (CS‐g‐bPEI).
Po-Yen Lin, Ya-Ling Chiu, Er-Yuan Chuang   +2 more
exaly   +3 more sources