16 results about "Fabry disease" patented technology

Provided are a compound having a 2,3-dihydro-1H-indene or 2,3-dihydrobenzofuran moiety or pharmaceutically acceptable salt thereof, a pharmaceutical composition comprising the same and a use thereof, where the compound having a 2,3-dihydro-1H-indene or 2,3-dihydrobenzofuran moiety or pharmaceutically acceptable salt thereof has an inhibitory activity against glucosylceramide synthase (GCS), and therefore can be usefully applied for preventing or treating various diseases associated with GCS, such as Gaucher disease, Fabry disease, Tay-Sachs disease, Parkinson's disease, etc.

A composition including a gene therapy delivery system and an alpha-galactosidase (GLA) polynucleotide encoding a GLA polypeptide, wherein the GLA polypeptide has at least 95% sequence identity to one of SEQ ID NOS. 1-40, 44-45, 51-52, 57, 61-173 or 212. Also provided are compositions, formulations, fusion proteins, and methods for the treatment of Fabry disease.

Methods and materials for treating chronic cardiac disorders are provided herein. For example, methods and materials for using a dual guanylate cyclase A and B activator (e.g., a polypeptide having the sequence set forth in SEQ ID NO:1) to treat hypertrophic cardiomyopathy and other cardiac conditions, such as conditions associated with ventricular hypertrophy, atrial hypertrophy, ventricular remodeling, atrial remodeling, systolic and / or diastolic dysfunction, heart failure (e.g., heart failure with reduced ejection fraction, heart failure with mildly reduced ejection fraction, and heart failure with preserved ejection fraction), and other forms of chronic heart disease (e.g., Fabry disease, Noonan syndrome, Pompe disease, PRKAG2-related cardiomyopathy, Danon disease, Friedrich ataxia cardiomyopathy, amyloidosis, or desminopathy) are provided herein.

Provided are dosing regimens for the treatment of Fabry disease in a patient. Certain methods relate to the treatment of ERT-experienced or ERT-naïve Fabry patients. Certain methods comprise administering to the patient about 123 mg free base equivalent of migalastat for improving left ventricular mass and / or improving podocyte globotriaosylceramide.

The invention discloses a recombinant human alpha-GalA-mono Fc fusion protein as well as a preparation method and application thereof, and belongs to the technical field of biological medicines. The invention constructs the alpha-GalA-mono Fc fusion protein, the alpha-GalA-mono Fc fusion protein comprises human alpha-GalA and human IgG1mono Fc fragments, the expression level of the alpha-GalA-mono Fc fusion protein is higher than that of the alpha-GalA-Fc fusion protein, and the generation of aggregates is obviously reduced from 49% to 24%. In addition, the IgG1mono Fc part of the fusion protein disclosed by the invention can also play a role in prolonging the half-life period of the fusion protein and play a better therapeutic role. The alpha-GalA-mono Fc fusion protein disclosed by the invention provides a new scheme for clinical research and treatment of Fabry disease, and has a good application prospect.

Provided are a compound having a 2,3-dihydro-1H-indene or 2,3-dihydrobenzofuran moiety or pharmaceutically acceptable salt thereof, a process for the preparation thereof, a pharmaceutical composition comprising the same and a use thereof, where the. The compound having a 2,3-dihydro-1H-indene or 2,3-dihydrobenzofuran moiety or pharmaceutically acceptable salt thereof has an inhibitory activity against glucosylceramide synthase (GCS), and therefore can be usefully applied for preventing or treating various diseases associated with GCS, such as Gaucher disease, Fabry disease, Tay-Sachs disease, Parkinson's disease, etc.

Provided are methods of treating Fabry disease in a patient having severe renal impairment. A method for the treatment of Fabry disease in a patient having severe renal impairment, including administering to the patient about 50 mg to about 200 mg free base equivalent (FBE) of migalastat or salt thereof at a frequency of less than once every week. A method for the treatment of Fabry disease in a patient having severe renal impairment, including administering to the patient about 50 mg to about 100 mg free base equivalent of migalastat or salt thereof at a frequency of between about once every three days and about once every two weeks.

A polynucleotide is provided comprising a nucleotide sequence encoding a biomolecule (e.g., human α-galactosidase A), a nucleotide sequence encoding a promoter (e.g., a hepatocyte-specific promoter or a hepatocyte-myocyte dual-specific promoter), or a nucleotide sequence encoding an expression cassette (e.g., a human α-galactosidase A expression cassette). Furthermore, promoters, expression cassettes, vectors, host cells, gene delivery systems (e.g., recombinant adeno-associated virus (AAV) particles and recombinant viral particles such as nonviral gene delivery systems), related pharmaceutical compositions, and methods for using them are also provided. Such compositions and methods are particularly suitable for gene therapy, and especially for lysosomal storage disorders, including Fabry disease.

The present invention relates to a gradient microfluidic chip for drug screening, a drug screening method using same, and a drug screening method for preventing or treating Fabry disease by using same. More specifically, the present invention relates to a gradient microfluidic chip having a structure capable of culturing and differentiating organoids at four constant drug concentration gradients together with continuous medium flow. When the gradient microfluidic chip for drug screening according to the present invention is used, the physiological function of organoids is improved by inducing the vascularization and differentiation of the organoids, thereby enabling reproduction of an organ at a human body level better than existing organoids, nutrients and various concentrations of a drug are smoothly supplied, and drug permeability is increased. Thus, a concentration-dependent therapeutic effect of a drug can be confirmed with high drug sensitivity, and therefore the gradient microfluidic chip enables rapid and effective drug screening.

One non-limiting and exemplary embodiment provides a system for supporting medical and pharmaceutical information personnel in charge (MR).SOLUTION: A) information of patients having a likelihood of suffering from Fabry's disease, and / or b) information of physicians having a likelihood of being able to diagnose and / or treat Fabry's disease to a medical and pharmaceutical information personnel in charge. Also provided are a method, apparatus, and program for predicting the likelihood that a patient is suffering from Fabry disease, and a method, apparatus, and program for predicting the likelihood that a doctor can diagnose and / or treat Fabry disease.SELECTED DRAWING: None

Polypeptide variants of human alpha-Gal A, codon-optimized coding sequences for the polypeptide variants and wild-type protein, and recombinant adeno-associated viral (rAAV) vectors comprising the coding sequences are provided. Also provided are chimeric promoters that can drive high expression in the liver and heart, which are suitable for use in the rAAVs of the present application.

Provided are a compound of Formula 1 having a chromane, isochromane, thiochromane, or tetrahydroquinoline moiety or pharmaceutically acceptable salt thereof, a process for the preparation thereof, a pharmaceutical composition comprising the same and a use thereof, wherein the compound having a chromane, isochromane, thiochromane, or tetrahydroquinoline moiety or pharmaceutically acceptable salt thereof has an inhibitory activity against glucosylceramide synthase (GCS), and therefore can be usefully applied for preventing or treating various diseases associated with GCS, such as Gaucher disease, Fabry disease, Tay-Sachs disease, Parkinson's disease, etc.:

A composition including a gene therapy delivery system and an alpha-galactosidase (GLA) polynucleotide encoding a GLA polypeptide, wherein the GLA polypeptide has at least 95% sequence identity to one of SEQ ID NOS. 1-40, 44-45, 51-52, 57, 61-173 or 212. Also provided are compositions, formulations, fusion proteins, and methods for the treatment of Fabry disease.

Described herein are RPE cells engineered to secrete a GLA protein, as well as compositions, pharmaceutical preparations, and implantable devices comprising the engineered RPE cells, and methods of making and using the same for treating Fabry disease.

Methods are provided for treating Fabry disease in patients. Certain methods relate to administering a treatment to Fabry disease patients who are already receiving ERT or are ERT-naive. Certain methods comprise administering to the patient about 100 mg to about 150 mg of migalastat free base equivalent to enhance and / or stabilize cardiac function.

The present disclosure provides expression constructs comprising a GLA transgene encoding the at least one α-Gal A protein for use in expressing α-Gal A proteins and preventing, inhibiting or treating Fabry disease or one or more symptoms associated with Fabry disease.