46 results about "Retinal degeneration" patented technology

The invention belongs to the technical field of medicines, and particularly relates to application of Comput-8 in preparation of a product for relieving or treating retina degeneration induced by blue light damage. It is found for the first time that Compond-8 has a protection effect on retina rod cells and cone cells induced by blue light damage, the cilia length, density and membrane disc thickness of the cone cells and the rod cells can be increased, the thickness of a retina outer nuclear layer can be increased, photoreceptor cell damage caused by blue light exposure can be remarkably improved, and the photoreceptor cell damage can be remarkably reduced. The retina degeneration caused by blue light injury can be relieved or treated, and a new thought and means are provided for treatment of the retina degeneration induced by the blue light injury.

The present invention relates to a novel lipid compound for tissue-specific delivery, and a lipid nano-particle (LNP) composition comprising the same, the lipid nano-particle comprising a modified lipid compound as a component, according to the present invention, internal active substances are selectively delivered into cells of specific tissues such as lymph nodes, spleen, retina, cancer, brain, liver and the like in vivo, thereby preventing side effects and safely exhibiting a desired level of effect. The tissue-specific non-viral LNP delivery vectors can be effectively used for prevention of infectious diseases and treatment of rare and refractory (hereditary) diseases (diseases which are effectively and selectively delivered to in-vivo targeted sites, such as macular degeneration, diabetic retinal degeneration, hereditary retinal degeneration, cancer, cerebral diseases, liver diseases and the like).

The invention provides a human-derived recessive retinal degeneration disease organ-like model based on Prom1 gene knockout. Specifically, the invention provides a specific gRNA targeting a Prom1 gene exon 9, and the specific gRNA can be used for efficiently knocking out the Prom1 gene of the human embryonic stem cell. The invention also provides a Prom1 gene knockout stem cell line derived from the human embryo pluripotent stem cell H9 and a retinal organ disease model. The retina-like organ can provide a research model for clinical treatment drugs.

The present disclosure provide methods and compositions for the treatment of retinal degeneration.

Compositions and methods for the treatment of retinal degeneration are provided. In one aspect, provided herein is adeno-associated virus (AAV) vector comprising an AAV capsid having encapsidated therein a vector genome comprising AAV inverted terminal repeat (ITR) sequences, a human protein kinase B (AKT) coding sequence, and expression control sequences that direct expression of AKT in a host cell.

The application discloses application of lanosterol derivatives with the following structure in preparation of drugs for treating retinal degenerative diseases. A novel compound, lanosterol derivative L7, is synthesized by reasonably modifying a lanosterol mother nucleus structure, and the bioavailability and retinal targeting property of the lanosterol derivative L7 are significantly improved, and the lanosterol derivative L7 can significantly improve retinal degeneration and shows better safety and effectiveness.

Methods and compositions for gene therapy of retinal degeneration related to mutations in MER proto-oncogene, tyrosine kinase (MERTK).

The described technology pertains to gene therapy methodologies, specifically techniques and systems for delivering therapeutic genes of substantial size that exceed the packaging capacity of adeno-associated virus (AAV) vectors. The disclosed approach employs up to four AAV vectors and the CRE-lox DNA recombination system, utilizing novel lox site embodiments that allow sequence-specific and near-unidirectional recombination. This method supports efficient reconstitution of therapeutic genes up to 16 kb in a predetermined arrangement. Applications include the delivery of genes such as IFT140, PCDH15, CEP290, and CDH23 for addressing genetic disorders, including retinal degeneration. The described technology demonstrates successful production of full-length proteins in mammalian cells and mouse retinas, with therapeutic efficacy observed in an IFT140-associated retinitis pigmentosa mouse model. The CRE-lox approach offers a flexible platform for addressing AAV's packaging constraints, enabling effective gene therapy for large genes.

This invention discloses an evaluation system and device for assessing the severity or progression of retinopathy of retinal disease (RP). The core of the evaluation system and device is the use of the RP degeneration index or the RPE / ELM residual index, which can quantify the degree of retinal degeneration and is used to assess the severity or progression of RP disease.

This invention relates to a kit and method for detecting pathogenic genes of X-chromosome-linked hereditary retinal degenerative diseases. The kit includes a library hybridization reagent and a probe set for detecting XLIRD pathogenic genes, including capture probes that can simultaneously and specifically capture the RPGR, RP2, RS1, and CHM pathogenic genes. The capture probes for capturing the RPGR pathogenic gene include probes with sequences as shown in SEQ ID NO. 1-96, and capture probes targeting the high-GC region of the RPGR gene with sequences as shown in SEQ ID NO. 24-55. This invention targets the above four pathogenic genes, comprehensively analyzes their variation profiles and sequence characteristics, optimizes the amplification region range, and designs a high-density capture probe set including exons, introns, UTR regions, and upstream and downstream 20kb regions. Specifically targeting the high-GC content region of exon 15 of the RPGR gene, the probe sequence and capture strategy are adjusted to achieve efficient capture of the high-GC region. During the library PCR enrichment stage, the amplification enzymes in the system are screened and optimized. Combined with the probe set, multiple amplification enzyme systems are used, and finally, the most suitable amplification enzyme combination for this gene system is optimized.

The invention discloses an application of a lanosterol derivative with a structure shown in the specification in preparation of a medicine for treating retinal degenerative diseases: a novel compound lanosterol derivative L7 is synthesized by reasonably modifying a lanosterol mother nucleus structure, so that the bioavailability and the retina targeting property of the lanosterol derivative L7 are remarkably improved; retinal degeneration can be remarkably improved, and better safety and effectiveness are shown.

This invention discloses a method for establishing a mouse model of outer retinal tubular structures, which is obtained by specifically knocking out the Lss gene in the mouse retina. This invention utilizes CRISPR / Cas9 gene editing technology to construct a mouse model of outer retinal tubular structures by specifically knocking out the Lss gene in the retina. The mouse model of outer retinal tubular structures constructed by this method is similar to the clinical phenotype of this type of retinal disease, providing a relatively ideal experimental animal model for studying the developmental regulation of the mammalian retina and the pathogenesis of retinal degeneration.

Methods are provided for treating and diagnosing diseases and disorders associated with retinal degeneration, such as retinitis pigmentosa. Dietary supplementation with specific metabolites and vitamins can prolong vision and provide a neuroprotective effect. In particular, dietary supplementation with a-ketoglutarate, or a derivative thereof, significantly prolongs photoreceptor cell survival and visual function. In addition, dietary supplementation with B vitamins and a ketogenic diet also improves photoreceptor cell survival and delays disease progression in some cases. Additionally, compositions, methods, and kits are provided for diagnosing a subject with retinitis pigmentosa based on expression levels of vitreous biomarkers.

Microparticulate (MP) formulations formed from one or more poly(hydroxyacid) polymers having a molecular weight ranging from 5kD to 60kD, and one or more active agents are injected into the eye of a subject to address eye disorders. The MP formulations assure high drug loading and extended delivery of the active agent of six to twelve months. The active agents may include peroxisome proliferator-activated receptor alpha (PPARα) signaling agonists such as PPARα agonist A190 (IUPAC name 3-((4-((4-fluorobenzyl)oxy)- 3- methylbenzyl)amino)benzoic acid). The formulations have therapeutic and protective effects against retinal degeneration diseases such as age-related macular degeneration (AMD), but may also be used for treating or relieving the symptoms of retinal inflammation, retinal neovascularization, retinal vascular leakage, retinopathy of prematurity (ROP), diabetic retinopathy (DR), and diabetic macular edema (DME).

This invention discloses a gene therapy method targeting USP8 for the treatment of retinal degenerative diseases and its application. The study found that USP8 expression is downregulated in aging and retinal degenerative disease mouse models; knockout... Usp8 Mice exhibiting retinal degeneration showed signs of retinal degeneration, and overexpression of USP8 was able to rescue these lesions. This finding indicates that USP8 plays a crucial role in maintaining retinal cell homeostasis and delaying retinal degeneration. Regulating USP8 expression levels can significantly improve retinal function, providing a novel potential target and strategy for the treatment of retinal degenerative diseases.

The present invention is in the field of drug delivery. The invention relates to the use of monocarboxylates as ligands for receptors that are present in for instance the retina. These receptors were found to be able to mediate uptake of these ligands, and of conjugates of these ligands. Such conjugates can be used in methods for treating or preventing neurodegenerative diseases, such as retinal degeneration.

Provided herein are methods of treating inherited retinal degeneration in an eye of an individual, wherein the method comprises: administering: (i) hydroxychloroquine to the individual; and (ii) a Fas-inhibiting peptide to the eye, wherein the peptide comprises an amino acid sequence HHIYLGAVNYIY or variant sequence thereof, or a pharmaceutically acceptable salt thereof.

A pharmaceutical composition containing a stem cell secretion, and a pharmaceutically acceptable excipient thereof. The protein in the stem cell secretion comprises one, two or three proteins selected from a group consisting of a pigment epithelium-derived factor (PEDF), a tissue inhibitor of metalloproteinase 1 (TIMP-1), a secreted protein acidic and rich in cysteine (SPARC), an α2-HS glycoprotein (AHSG), a periostin (POSTN), a decorin (DCN), the retinoic acid receptor responder 2 (RARRES2), the glia-derived nexin (GDN), the Sparc / osteonectin, cwcv and kazal like domains proteoglycan 1 (SPOCK1), and the follistatin-like 1 (FSTL1). The pharmaceutical composition is used for treating degenerative ocular diseases including retinal degeneration, retinitis pigmentosa, glaucoma, macular degeneration, etc.

The application discloses a traditional Chinese medicine composition for treating senile macular retinal degeneration and a preparation method thereof. The traditional Chinese medicine composition is prepared from wolfberry fruit, chrysanthemum, milkvetch seed, dendrobium, panax notoginseng, raw safflower, and radix puerariae according to certain weight ratios. The traditional Chinese medicine composition is prepared into an oral preparation and has the effect of treating senile macular retinal degeneration.

Methods for treatment of damaged corneal endothelium are provided, applicable for treatment or protection of corneal endothelium in various circumstances such as oxidative stress, age-related decline in endothelial cell density, inherited or non-inherited degenerative disease such as Fuchs endothelial corneal dystrophy, surgical trauma, increased intraocular pressure (IOP) or contact lens overuse. Further provided are methods for treatment of retinal degeneration such as in diabetic retinopathy, age-related macular degeneration and glaucoma. The methods comprise the transplantation of viable isolated, exogenous, mitochondria systemically and / or directly to the cornea or the retina.

An everolimus topical ocular administration formulation, characterized by comprising a therapeutically effective amount of everolimus and following pharmaceutical excipients: (1) a surfactant; (2) water; and (3) other pharmaceutically acceptable pharmaceutical excipients, wherein the surfactant comprises a component A and a component B, the component A being a cyclodextrin excipient and the component B being Tween. Diseases or disorders that may be treated or prevented by the formulation include axial elongation, axial elongation-associated myopia, retinal thinning, retinal degeneration, retinal holes, posterior scleral staphyloma, tessellated fundus, chorioretinal atrophy, macular atrophy, macular retinoschisis, lacquer cracks, Fuchs spots and choroidal neovascularization, and visual impairment associated with these disorders.

This invention relates to the field of biomedical technology, specifically proposing a method for preparing chiral cadmium selenide quantum dots and their application in retinal degeneration. By precisely controlling the reaction conditions, highly efficient chiral cadmium selenide quantum dots were successfully synthesized. The chiral cadmium selenide quantum dots of this invention exhibit significant protective effects against retinal damage caused by high intraocular pressure or oxidative stress, effectively improving the survival rate of retinal ganglion cells and alleviating retinal pathological changes. In a rat model, topical ocular administration demonstrated good therapeutic efficacy and biosafety. This invention provides new ideas and methods for the treatment of retinal degeneration and has broad clinical application prospects. Furthermore, the preparation method of these quantum dots and their complexes is simple and low-cost, providing new possibilities for expanding the application of quantum dots in the biomedical field.

Pharmaceutical formulations for the treatment of crystalline-like retinal degeneration (BCD) comprising a recombinant AAV virus expressing CYP4V2, sodium chloride, poloxamer, phosphate and water for injection, and having a pH of 7.0-7.6. The pharmaceutical preparation has extremely good virus titer stability, extremely few AAV aggregates, high mRNA expression of target genes after multiple freezing and thawing and / or excellent high-temperature stability, animal in-vivo experiments prove that the formula preparation has excellent performance in the aspect of reducing local inflammatory response of retina, and further clinical tests prove that the formula preparation has good clinical application prospects in the aspect of reducing local inflammatory response of retina. The pharmaceutical preparation provided by the invention conforms to the technical specifications of related safety and effectiveness of Chinese pharmacopoeia and United States Pharmacopoeia (USP).

Among other things, the present disclosure provides compositions, e.g., isolated nucleic acids, vectors, and recombinant adeno-associated viruses (rAAVs), comprising a nucleic acid sequence encoding a PRPF31 polypeptide. In some embodiments, the present disclosure provides methods for increasing PRPF31 expression, e.g., in a subject. In some embodiments, the present disclosure provides methods for treating retinal degeneration in a subject. In some embodiments, the present disclosure provides methods for treating retinitis pigmentosa (RP) in a subject.

This invention relates to the application of human amniotic epithelial stem cells (hAESCs) in retinal regeneration and repair, belonging to the field of biomedical technology. It aims to address the technical problems of off-target effects, low efficiency, and safety risks associated with existing methods that directly reprogram Müller glial cells (MGs) via viruses. This invention transplants hAESCs into the degenerated subretinal space. hAESCs, through secreting active substances such as matrix metalloproteinases (MMPs), degrade excessively deposited extracellular matrix, improve the pathological microenvironment inhibiting regeneration, and thus promote the reprogramming of endogenous MGs into functional retinal neurons, thereby achieving retinal structural repair and visual function restoration. This invention utilizes highly safe hAESCs and, by remodeling the microenvironment, significantly improves the efficiency and specificity of MG differentiation into functional neurons, providing a new strategy for the treatment of retinal degenerative diseases.

The instant invention provides methods and compositions related to discovery of Free Fatty Acid Receptor 1 (FFA1) as a therapeutic target for treatment or prevention of diseases or disorders of neurons that are characterized by angiogenesis, or of vascular diseases of the eye, retinal degeneration and / or tumors more generally. Therapeutic and / or prophylactic uses and compositions of known FFA1 inhibitors, including small molecules and nucleic acid agents, are described. Methods for identification of novel FFA1 inhibitors are also provided.

The present invention relates generally to gene therapy for treating ailments that can affect vision such as retinal degeneration, retinal dystrophy, macular degeneration, macular dystrophy, ischemic retinopathies, and glaucoma. Embodiments include systems and treatments that use AAV-mediated gene therapy or non AAV-mediated DNA, mRNA, or protein therapy to target all retinal cells. An AAV virion can be introduced (e.g., via intravitreal or subretinal injection) into an eye of an individual, or systemically, to express a heterologous gene product such as BMI1 protein (B lymphoma Mo-MLV insertion region 1 homolog).

Methods and compositions are provided for gene therapy of retinal degeneration associated with MER proto-oncogene, i.e. Tyrosine kinase (MERTK) mutations.

The invention discloses a ferritin-coupled melanin nano-particle and a preparation method and application thereof, and relates to the technical field of biomedicine, the ferritin-coupled melanin nano-particle AFn-MNP comprises ferritin and a melanin nano-particle, the ferritin and the melanin nano-particle are covalently linked to form a core-shell structure, and the ferritin-coupled melanin nano-particle has excellent iron ion chelating ability and antioxidant activity. The AFn-MNP can effectively remove reactive oxygen species (ROS), inhibit ferroptosis of photoreceptor cells and reverse oxidative damage of retina. In a dry age-related macular degeneration (dAMD) model, single intravitreal injection of AFn-MNP significantly improves the visual function and protects the retina structural integrity. The invention provides a novel nano treatment strategy for treating dAMD and other retinal degenerative diseases.

The present invention describes pharmaceutical combinations of a 5HT3-antagonist, an NK1-antagonist and / or fluoxetine with pramipexole for the treatment of retinal degeneration, including Age-related Macular Degeneration. The present invention also describes methods for treatment of retinal degeneration, including Age-related Macular Degeneration by administration of the pharmaceutical combinations of the invention.