Basic notions about gene therapy from the nucleic acid perspective and applications in a pediatric disease: Duchenne muscular dystrophy
Arch Pediatr. 2023 Nov;30(8S1):8S2-8S11. doi: 10.1016/S0929-693X(23)00221-X.ABSTRACTGene therapy involves the introduction of genetic material into cells as a therapeutic molecule to cure a disease. Through the transfer of specific nucleic acid to the target tissue, gene expression can be downregulated, augmented, or corrected thanks to the nucleic acid sequence as a support of gene expression. This is achieved through molecular interactions according to the sequence arrangement or the secondary structure of the molecules or through their catalytic properties. Over the past two decades, the rapid advances of knowledge and ...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Isabelle Richard Source Type: research
Recent advances in hematopoietic gene therapy for genetic disorders
Arch Pediatr. 2023 Nov;30(8S1):8S24-8S31. doi: 10.1016/S0929-693X(23)00224-5.ABSTRACTHematopoietic gene therapy is based on the transplantation of gene-modified autologous hematopoietic stem cells and since the inception of this approach, many technological and medical improvements have been achieved. This review focuses on the clinical studies that have used hematopoietic gene therapy to successfully treat several rare and severe genetic disorders of the blood or immune system as well as some non-hematological diseases. Today, in some cases hematopoietic gene therapy has progressed to the point of being equal to, or bette...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Anne Galy Marie Dewannieux Source Type: research
Gene therapy for neurodegenerative disorders in children: dreams and realities
Arch Pediatr. 2023 Nov;30(8S1):8S32-8S40. doi: 10.1016/S0929-693X(23)00225-7.ABSTRACTGene therapy encompasses the administration of biological medicinal products containing recombinant nucleic acids, mainly DNA, with the aim of treating or curing diseases. This represents a unique therapeutic strategy to reach the brain, in order to prevent or halt a neurodegenerative process. During the past decade, active multidisciplinary research has started to solve many issues for gene therapy in neurodegenerative disorders in terms of vectors, modes of administration, and expression of the therapeutic DNA. The engineering of hematop...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Odile Boespflug-Tanguy Caroline Sevin Francoise Piguet Source Type: research
Update on gene therapies in pediatric ophthalmology
Arch Pediatr. 2023 Nov;30(8S1):8S41-8S45. doi: 10.1016/S0929-693X(23)00226-9.ABSTRACTRare eye diseases encompass a broad spectrum of genetic anomalies with or without additional extraocular manifestations. Genetic eye disorders in pediatric patients often lead to severe visual impairments. Therefore, a challenge of gene therapy is to provide better vision to these affected children. In recent years, inherited retinal diseases, inherited optic neuropathies, and corneal dystrophies have dominated discussions to establish gene and cell replacement therapies for these diseases. Gene therapy involves the transfer of genetic mat...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Dominique Bremond-Gignac Matthieu P Robert Alejandra Daruich Source Type: research
Current limitations of gene therapy for rare pediatric diseases: Lessons learned from clinical experience with AAV vectors
Arch Pediatr. 2023 Nov;30(8S1):8S46-8S52. doi: 10.1016/S0929-693X(23)00227-0.ABSTRACTGene therapy using adeno-associated viral (AAV) vectors is a promising therapeutic strategy for multiple inherited diseases. Following intravenous injection, AAV vectors carrying a copy of the missing gene or the genome-editing machinery reach their target cells and deliver the genetic material. Several clinical trials are currently ongoing and significant success has already been achieved with at least six AAV gene therapy products with market approval in Europe and the United States. Nonetheless, clinical trials and preclinical studies h...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Antoine Gardin Giuseppe Ronzitti Source Type: research
Gene therapies in pediatrics
Arch Pediatr. 2023 Nov;30(8S1):8S1. doi: 10.1016/S0929-693X(23)00220-8.NO ABSTRACTPMID:38043976 | DOI:10.1016/S0929-693X(23)00220-8 (Source: Archives de Pediatrie)
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: J Andoni Urtizberea Source Type: research
Gene therapy in spinal muscular atrophy
Arch Pediatr. 2023 Nov;30(8S1):8S12-8S17. doi: 10.1016/S0929-693X(23)00222-1.ABSTRACTInfantile SMA is a neuromuscular disease caused by the motor neuron degeneration, depending on the age of appearance of clinical signs and the evolution of the disease, three types of decreasing severity have been defined. SMA is caused by mutations or deletions of the SMN1 gene and disease. Various therapies aimed at increasing SMN protein levels have been developed. Gene therapy is part of the therapeutic arsenal now available for the treatment of SMA under certain conditions. It uses the scAAV9 vector carrying a functional copy of SMN1 ...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Fr édérique Audic Source Type: research
Gene therapy for primary myopathies: literature review and prospects
Arch Pediatr. 2023 Nov;30(8S1):8S18-8S23. doi: 10.1016/S0929-693X(23)00223-3.ABSTRACTGene therapy has emerged as a promising frontier in the pursuit of effective treatments for primary myopathies. This scientific review explores the application of viral vectors and more specifically of recombinant adeno-associated virus (rAAV) vectors as a potent gene delivery tool in the context of primary myopathies, highlighting its transformative potential. Focusing on primary myopathies, including Duchenne muscular dystrophy (DMD), limb-girdle muscular dystrophies (LGMDs), X-linked myotubular myopathy (XLMTM), and Pompe disease, we re...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Giorgia Querin Marina Colella Source Type: research
Basic notions about gene therapy from the nucleic acid perspective and applications in a pediatric disease: Duchenne muscular dystrophy
Arch Pediatr. 2023 Nov;30(8S1):8S2-8S11. doi: 10.1016/S0929-693X(23)00221-X.ABSTRACTGene therapy involves the introduction of genetic material into cells as a therapeutic molecule to cure a disease. Through the transfer of specific nucleic acid to the target tissue, gene expression can be downregulated, augmented, or corrected thanks to the nucleic acid sequence as a support of gene expression. This is achieved through molecular interactions according to the sequence arrangement or the secondary structure of the molecules or through their catalytic properties. Over the past two decades, the rapid advances of knowledge and ...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Isabelle Richard Source Type: research
Recent advances in hematopoietic gene therapy for genetic disorders
Arch Pediatr. 2023 Nov;30(8S1):8S24-8S31. doi: 10.1016/S0929-693X(23)00224-5.ABSTRACTHematopoietic gene therapy is based on the transplantation of gene-modified autologous hematopoietic stem cells and since the inception of this approach, many technological and medical improvements have been achieved. This review focuses on the clinical studies that have used hematopoietic gene therapy to successfully treat several rare and severe genetic disorders of the blood or immune system as well as some non-hematological diseases. Today, in some cases hematopoietic gene therapy has progressed to the point of being equal to, or bette...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Anne Galy Marie Dewannieux Source Type: research
Gene therapy for neurodegenerative disorders in children: dreams and realities
Arch Pediatr. 2023 Nov;30(8S1):8S32-8S40. doi: 10.1016/S0929-693X(23)00225-7.ABSTRACTGene therapy encompasses the administration of biological medicinal products containing recombinant nucleic acids, mainly DNA, with the aim of treating or curing diseases. This represents a unique therapeutic strategy to reach the brain, in order to prevent or halt a neurodegenerative process. During the past decade, active multidisciplinary research has started to solve many issues for gene therapy in neurodegenerative disorders in terms of vectors, modes of administration, and expression of the therapeutic DNA. The engineering of hematop...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Odile Boespflug-Tanguy Caroline Sevin Francoise Piguet Source Type: research
Update on gene therapies in pediatric ophthalmology
Arch Pediatr. 2023 Nov;30(8S1):8S41-8S45. doi: 10.1016/S0929-693X(23)00226-9.ABSTRACTRare eye diseases encompass a broad spectrum of genetic anomalies with or without additional extraocular manifestations. Genetic eye disorders in pediatric patients often lead to severe visual impairments. Therefore, a challenge of gene therapy is to provide better vision to these affected children. In recent years, inherited retinal diseases, inherited optic neuropathies, and corneal dystrophies have dominated discussions to establish gene and cell replacement therapies for these diseases. Gene therapy involves the transfer of genetic mat...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Dominique Bremond-Gignac Matthieu P Robert Alejandra Daruich Source Type: research
Current limitations of gene therapy for rare pediatric diseases: Lessons learned from clinical experience with AAV vectors
Arch Pediatr. 2023 Nov;30(8S1):8S46-8S52. doi: 10.1016/S0929-693X(23)00227-0.ABSTRACTGene therapy using adeno-associated viral (AAV) vectors is a promising therapeutic strategy for multiple inherited diseases. Following intravenous injection, AAV vectors carrying a copy of the missing gene or the genome-editing machinery reach their target cells and deliver the genetic material. Several clinical trials are currently ongoing and significant success has already been achieved with at least six AAV gene therapy products with market approval in Europe and the United States. Nonetheless, clinical trials and preclinical studies h...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Antoine Gardin Giuseppe Ronzitti Source Type: research
Gene therapies in pediatrics
Arch Pediatr. 2023 Nov;30(8S1):8S1. doi: 10.1016/S0929-693X(23)00220-8.NO ABSTRACTPMID:38043976 | DOI:10.1016/S0929-693X(23)00220-8 (Source: Archives de Pediatrie)
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: J Andoni Urtizberea Source Type: research
Gene therapy in spinal muscular atrophy
Arch Pediatr. 2023 Nov;30(8S1):8S12-8S17. doi: 10.1016/S0929-693X(23)00222-1.ABSTRACTInfantile SMA is a neuromuscular disease caused by the motor neuron degeneration, depending on the age of appearance of clinical signs and the evolution of the disease, three types of decreasing severity have been defined. SMA is caused by mutations or deletions of the SMN1 gene and disease. Various therapies aimed at increasing SMN protein levels have been developed. Gene therapy is part of the therapeutic arsenal now available for the treatment of SMA under certain conditions. It uses the scAAV9 vector carrying a functional copy of SMN1 ...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Fr édérique Audic Source Type: research
