34 results about "Stargardt disease" patented technology

The present invention relates to the use of cyclic oligosaccharides as chemical complexants of lipofuscin bisretinoids (A2E) to prevent and treat eye (i.e., retinal or macular) disease. Monomeric, dimeric, multimeric, or polymeric oligosaccharide rings act as pharmacologic agents to prevent and treat ophthalmologic disorders triggered by the accumulation of lipofuscin in the retinal pigment epithelium (RPE), which occurs as a consequence of either genetic disorders, such as Stargardt Disease (SD) and Best Disease (BD), or aging, such as Age-Related Macular Degeneration (AMD), or other diseases, such as retinitis pigmentosa, and cone-rod dystrophy.

A method for treating a disease characterized by excessive lipofuscin accumulation in the retina of a mammal afflicted therewith comprising administering to the mammal an effective amount of a transthyretin (TTR) ligand.

A method for treating bisretinoid-mediated macular degeneration in a mammal afflicted therewith comprising administering to the mammal an effective amount of a compound having the structure:or an ester or a pharmaceutically acceptable salt thereof.

A method for treating a disease characterized by excessive lipofuscin accumulation in the retina in a mammal afflicted therewith, comprising administering to the mammal an effective amount of a compound having the structure of any one of Formulas I-IV described herein, or a pharmaceutically acceptable salt thereof.

Disclosed are methods and compositions for early diagnosis, monitoring and treatment of retinal dystrophy, age-related macular degeneration, Bardet-Biedel syndrome, Bassen-kornzweig syndrome, best disease, choroidema, gyrate atrophy, congenital amourosis, refsun syndrome, stargardt disease and Usher syndrome. In particular, the invention relates to a protein, termed “Rdcvf1,” that is differentially transcribed and expressed in subjects suffering from retinal dystrophies and the like, such as retinal dystrophy and age-related macular degeneration compared with non-sufferers, antibodies which recognize this protein, and methods for diagnosing such conditions.

The application discloses methods and compositions for the inhibition of the alternative complement pathway. The methods and compositions involve the use of aptamers for inhibiting complement Factor D. The application further provides anti-Factor D aptamers for the treatment of dry age-related macular degeneration, geographic atrophy, wet age-related macular degeneration or Stargardt disease.

The invention relates to application of a ginsenoside Rb1 and Rd combination to preparation of a medicine for treating photoreceptor cell death related diseases. A mouse model suffering from retinal light damage is adopted to simulate the common key pathological links in the process of various degenerative retinal diseases so as to research the intervention effects of the ginsenoside Rb1 and Rd combination on the mouse model suffering from retinal light damage, and the results show that the medicinal combination can maintain the format of the retina outer nuclear layer, effectively prevent the retina outer nuclear layer from degenerative damage and thickness reduction, inhibit death of photoreceptor cells, block oxidative stress of retinal pigment epitheliums and photoreceptor cells, effectively inhibit retinal damage related immuno-inflammatory responses and remarkably improve the degenerative retinal diseases. Therefore, the ginsenoside Rb1 and Rd combination can be used for preparing the medicine for treating various degenerative retinal diseases including age-related macular degeneration, retinal pigment degeneration, Stargardt disease, cone-rod cell dystrophy, diabetic retinopathy and the like.

Some aspects of the invention provide for a method of treating Wet and / or Dry Age-related Macular Degeneration, Retinitis Pigmentosa, Diabetic Retinopathy, cataracts, and / or Stargardt Disease using polyunsaturated fatty acids which are modified in certain positions to attenuate oxidative damage by Reactive Oxygen Species (ROS) and / or suppress the rate of formation of reactive products and toxic compounds.

The present invention relates to the use of cyclic oligosaccharides as chemical complexants of lipofuscin bisretinoids (A2E) to prevent and treat eye (i.e., retinal or macular) disease. Monomeric, dimeric, multimeric, or polymeric oligosaccharide rings act as pharmacologic agents to prevent and treat ophthalmologic disorders triggered by the accumulation of lipofuscin in the retinal pigment epithelium (RPE), which occurs as a consequence of either genetic disorders, such as Stargardt Disease (SD) and Best Disease (BD), or aging, such as Age-Related Macular Degeneration (AMD), or other diseases, such as retinitis pigmentosa, and cone-rod dystrophy.

The present invention relates to a composition for preventing and treating a Bruch's membrane dysfunction-associated disease, which includes a sea cucumber extract as an active ingredient, and more particularly, to a composition for preventing and treating a Bruch's membrane dysfunction-associated disease, which includes a sea cucumber extract having effects of regenerating the Bruch's membrane of an eye and improving a transport function. The composition according to the present invention improves the transport function of the Bruch's membrane and promotes the regeneration of the Bruch's membrane, thereby delaying or reversing an eye aging process, and thus has excellent effects on the prevention and treatment of a disease such as age-related macular degeneration (AMD), Sorsby's fundus dystrophy, Malattia Levintanese (ML), Stargardt disease, Best's vitelliform retinal dystrophy and Doyne's honeycomb retinal dystrophy (DHRD), which occurs due to the age-related dysfunction of the Bruch's membrane.

Disclosed is a method for the treatment, prevention and / or stabilisation of ARMD, Stargardt disease, pigmentary retinopathy and / or diabetic retinopathy, including the application of a 3-deoxyanthocyanidin of formula (I) in which R1, R2, R3, R4, R5, R6, R7, R8, R9, R10, R11 and X− are as defined, with the condition that at least one of R1, R2, R3, R4 or R5 is a hydroxyl and at least one of R8, R9, R10 or R11 is a hydroxyl.

A method for treating a disease characterized by excessive lipofuscin accumulation in the retina in mammals afflicted therewith, comprising administering to the mammal an effective amount of a non-retinoid antagonist compound or a pharmaceutically acceptable salt thereof.

The invention relates to application of tripterine to preparation of medicine treating degenerative retinopathy related diseases. A mouse model suffering from retinal photodamage is adopted to simulate a common pathological link in various degenerative retinopathy generation processes, that is, death of photoreceptor cells; the photoreceptor cell death preventing function and the degenerative retinopathy preventing function of tripterine are researched, wherein the results show that tripterine can be used for inhibiting mass dead of the photoreceptor cells and structural damage and functional injury of a retina caused by photodamage, and is very obvious in degenerative retinopathy treating effect. Therefore, tripterine can be used for preparing medicine treating various types of degenerative retinopathy including age related macular degeneration, retinitis pigmentosa, Stargardt disease, cone-rod dystrophy, diabetic retinopathy and the like, or preparation of reagents used in related scientific researches.

The present invention relates to the use of cyclic oligosaccharides as chemical complexants of lipofuscin bisretinoids (A2E) to prevent and treat eye (i.e., retinal or macular) disease. Monomeric, dimeric, multimeric, or polymeric oligosaccharide rings act as pharmacologic agents to prevent and treat ophthalmologic disorders triggered by the accumulation of lipofuscin in the retinal pigment epithelium (RPE), which occurs as a consequence of either genetic disorders, such as Stargardt Disease (SD) and Best Disease (BD), or aging, such as Age-Related Macular Degeneration (AMD), or other diseases, such as retinitis pigmentosa, and cone-rod dystrophy.

The present invention relates to the field of medicine. In particular, it relates to novel antisense oligonucleotides that may be used in the treatment, prevention and / or delay of Stargardt disease

The invention discloses application of arglabin in the preparation of drugs for Stargardt disease, particularly type-I Stargardt disease. Arglabin plays the role of protecting not only retinal pigmentepithelia but also photoreceptor cells, and moreover, arglabin does not affect the functions of all the organs of the body and have no genetic toxicity, is highly safe, and is easy to administrate.

The present invention features nucleic acid trans-splicing molecules (e.g., pre-mRNA trans- splicing molecules (RTMs)) capable of correcting one or more mutations in the ABCA4 gene or the CEP290 gene.Such molecules are useful in the treatment of disorders associated with mutations in ABCA4, such as Stargardt Disease (e.g., Stargardt Disease 1) and disorders associated with a mutation in CEP290, such as Leber congenital amourosis 10 (LCA 10). Also provided by the invention described herein are methods of using the nucleic acid trans-splicing molecules for correcting mutations in ABCA4 and CEP290 and for treating disorders associated with mutations in ABCA4 and CEP290, such as Stargardt Disease and LCA 10.

The application discloses methods and compositions for the inhibition of the alternative complement pathway. The methods and compositions involve the use of aptamers for inhibiting complement Factor D. The application further provides anti-Factor D aptamers for the treatment of dry age-related macular degeneration, geographic atrophy, wet age-related macular degeneration or Stargardt disease. In some cases, stem-loop aptamers are provided for the inhibition of Factor D.

Disclosed is an agent for inhibiting or reducing light sensitivity comprising a substance that inhibits or reduces ubiquitination, for example, an agent for inhibiting or reducing light sensitivity capable of protecting a retina, reducing retinal degeneration, reducing aging of a retina and / or reducing hyperesthesia. The present invention is suitable for use in amelioration or prevention of a symptom associated with light reception, such as age-related macular degeneration, retinitis pigmentosa, Leber congenital amaurosis, Stargardt disease, cone-rod dystrophy, diabetic retinopathy, macular edema, retinal ischemia, photosensitive seizure, photosensitive epilepsy, psychiatric disorders, photic maculopathy, asthenopia, retinal dysfunction, sleep disorders, migraine and light-induced damage.

The invention relates to the technical field of biological genes, in particular to a Stargardt disease mutation detection kit.The inventor firstly discovers a new mutation site from G to A of c.215 on an ABCA4 gene, then the corresponding kit is researched and developed, and the kit comprises an amplification primer, a specific probe, a lock type probe, a rolling ring primer, Taq DNA ligase, Bst DNA polymerase, a reaction buffer solution and the like; according to the kit, firstly, a human DNA fragment is used as a template, under the action of Taq DNA ligase, a lock-type probe is connected into a ring-shaped product, then isothermal rolling circle amplification is carried out under the action of a rolling circle primer, and whether a new mutation site from G to A of c.215 on an ABCA4 gene exists in human DNA or not is detected through agarose gel electrophoresis. According to the novel mutation found firstly, an ABCA4 gene mutation spectrum is added, meanwhile, the provided kit is high in specificity, high in sensitivity, free of temperature circulation and easy to operate, and guidance is provided for clinical detection of the Stargardt disease.

The present disclosure provides an adeno-associated viral (AAV) vector system for expressing a human ABCA4 protein in a target cell, the AAV vector system comprising a first AAV vector comprising a first nucleic acid sequence and a second AAV vector comprising a second nucleic acid sequence; wherein the first nucleic acid sequence comprises a 5′ end portion of an ABCA4 coding sequence (CDS) and the second nucleic acid sequence comprises a 3′ end portion of an ABCA4 CDS, and the 5′ end portion and the 3′ end portion together encompass the entire ABCA4 CDS; wherein the first nucleic acid sequence comprises a sequence of contiguous nucleotides corresponding to nucleotides 105 to 3597 of SEQ ID NO: 1; wherein the second nucleic acid sequence comprises a sequence of contiguous nucleotides corresponding to nucleotides 3806 to 6926 of SEQ ID NO: 1; wherein the first nucleic acid sequence and the second nucleic acid sequence each comprise a region of sequence overlap with the other; and wherein the region of sequence overlap comprises at least about 20 contiguous nucleotides of a nucleic acid sequence corresponding to nucleotides 3598 to 3805 of SEQ ID NO: 1. Also provided are uses of AAV vector systems in the prevention or treatment of disease.