Trends in Genetics, Год журнала: 2022, Номер 38(12), С. 1284 - 1298
Опубликована: Авг. 4, 2022
Язык: Английский
European Journal of Ophthalmology, Год журнала: 2024, Номер 34(6), С. 1631 - 1641
Опубликована: Март 18, 2024
Inherited Retinal Dystrophies (IRD) are diverse rare diseases that affect the retina and lead to visual impairment or blindness. Research in this field is ongoing, with over 60 EU orphan medicinal products designated therapeutic area by Committee for Orphan Medicinal Products (COMP) at European Medicines Agency (EMA). Up now, COMP has used traditional disease terms, like retinitis pigmentosa, designation regardless of product's mechanism action. The reviewed approach IRDs taking into account all previous Designations (OD) experience IRDs, most relevant up date scientific literature input from patients clinical experts. Following review, decided there should be three options available concerning condition: i) an amended set OD groups therapies might a broad spectrum conditions, ii) gene-specific targeted therapies, iii) occasional term do not fit above two categories. change caters different scenarios allow optimum future applications including option designation. By applying new approach, increases regulatory clarity, efficiency, predictability sponsors, aligns tools latest medical developments ensures potentially treatable will included scope OD.
Язык: Английский
Процитировано
2
Pharmacological Research, Год журнала: 2024, Номер 203, С. 107159 - 107159
Опубликована: Март 29, 2024
Encapsulated cell technology (ECT) is a targeted delivery method that uses the genetically engineered cells in semipermeable polymer capsules to deliver cytokines. Thus far, ECT has been extensively utilized pharmacologic research, and shows enormous potentials treatment of posterior segment diseases. Due biological barriers within eyeball, it difficult attain effective therapeutic concentration through topical administration drug molecules. Encouragingly, cytokines provided by can cross these achieve sustained release at desired location. The encapsulation system permeable materials allow growth factors diffuse efficiently into retinal tissue. Moreover, based be terminated timely when we need retrieve implant, which makes therapy reversible provides safer alternative for intraocular gene therapy. Meanwhile, also place special emphasis on optimizing enhancing preservation techniques stable eyeball. This holds great promise patients with dry AMD, RP, glaucoma MacTel. These findings would enrich our understandings promote its future applications degenerative retinopathy. review comprises articles evaluating exactness artificial intelligence-based formulas published from 2000 March 2024. papers were identified literature search various databases (PubMed/MEDLINE, Google Scholar, Cochrane Library Web Science).
Язык: Английский
Процитировано
2
Cells, Год журнала: 2024, Номер 13(20), С. 1706 - 1706
Опубликована: Окт. 15, 2024
Inherited retinal diseases (IRDs) represent a diverse group of genetic disorders leading to progressive degeneration the retina due mutations in over 280 genes. This review focuses on various methodologies for preclinical characterization and evaluation adeno-associated virus (AAV)-mediated gene therapy as potential treatment option IRDs, particularly focusing therapies targeting mutations, such those RPE65 FAM161A AAV vectors, AAV2 AAV5, have been utilized deliver therapeutic genes, showing promise preserving vision enhancing photoreceptor function animal models. Despite their advantages—including high production efficiency, low pathogenicity, minimal immunogenicity—AAV-mediated face limitations immune responses beyond retina, vector size constraints, challenges large-scale manufacturing. systematically compares different experimental models used investigate AAV-mediated therapies, mouse models, human explants (HREs), induced pluripotent stem cell (iPSC)-derived organoids. Mouse are advantageous manipulation detailed investigations disease mechanisms; however, anatomical differences between mice humans may limit translational applicability results. HREs offer valuable insights into pathophysiology but tissue degradation lack systemic physiological effects. Retinal organoids, other hand, provide robust platform that closely mimics development, thereby enabling more comprehensive studies mechanisms strategies, including AAV-based interventions. Specific outcomes targeted these include preservation functional improvements retinas damaged by mutations. highlights strengths weaknesses each model advocates combined use developing IRDs. As research advances, optimizing design delivery methods will be critical efficacy improving clinical patients with
Язык: Английский
Процитировано
2
Frontiers in Medicine, Год журнала: 2022, Номер 9
Опубликована: Июль 15, 2022
Successful sequencing of the human genome and evolving functional knowledge gene products has taken genomic medicine to forefront, soon combining broadly with traditional diagnostics, therapeutics, prognostics in patients. Recent years have witnessed an extraordinary leap our understanding ocular diseases their respective genetic underpinnings. As we are entering age medicine, rapid advances sequencing, delivery, surgery, computational genomics enable ever-increasing capacity provide a precise robust diagnosis development targeted treatment strategies. Inherited retinal major source blindness around world where large number causative genes been identified, paving way for personalized diagnostics clinic. Developments genetics transfer techniques also led first FDA approval therapy LCA, childhood blindness. Many such focus various clinical trials, making diagnoses diseases, underlying studies natural history important. Here, review methodologies identifying new variants associated disorders complexities them. Thereafter discuss briefly, application technologies diagnosis. We strategies, challenges, potential inherited acquired diseases. Additionally, translational aspects therapy, important vector types considerations trials that may help advance therapeutics ophthalmology. Retinal disease research precision therapies; therefore, this provides general current status
Язык: Английский
Процитировано
10
Trends in Genetics, Год журнала: 2022, Номер 38(12), С. 1284 - 1298
Опубликована: Авг. 4, 2022
Язык: Английский
Процитировано
10