36 results about "Mucopolysaccharidosis" patented technology

Provision of a method for accurate diagnosis of mucopolysaccharidoses, including determining the level of glycosaminoglycan in a biological sample with high sensitivity and with ease. A diagnostic method of mucopolysaccharidoses including the following steps (1) and (2): (1) a step including (a) filtering a biological sample with an ultrafiltration filter, digesting the sample on the filter with a glycosaminoglycan-specific enzyme, centrifuging the digested sample to obtain a filtrate, or (b) digesting a biological sample with a glycosaminoglycan-specific enzym, filtering the sample with an ultrafiltration filter to obtain a filtrate, applying the filtrate obtained by (a) or (b) to a liquid chromatograph/mass spectrometer, and analyzing glycosaminoglycan-derived disaccharides, and (2) a step of diagnosing a subject as having mucopolysaccharidosis, chemically diagnosing effect of treatment of mucopolysaccharidoses, or determining types of mucopolysaccharidoses, on the basis of quantitative concentration data and disaccharide composition obtained in step (1).

Disclosed are methods for delivering an enzyme to a subject's brain or bone. The methods include administering a hyaluronidase to the subject and administering the enzyme to the subject. The hyaluronidase and the enzyme are administered to the subject under conditions effective to deliver the enzyme to the subject's brain or bone. Compositions and kits which include hyaluronidase and an enzyme are also disclosed, as are methods for increasing blood-brain barrier permeability in a subject. Also disclosed are methods, compositions, and kits for delivering genes or other nucleic acid molecules to a subject's brain or bone, as well as methods, compositions, and kits for delivering enzymes to a subject's tissues. The methods, compositions, and kits are disclosed as being useful in treating or preventing a variety of enzyme deficiency diseases, such as those affecting brain and/or bone, e.g., as Canavan's disease, Fabry disease, Gaucher's disease, various forms of mucopolysaccharidosis (e.g., Hurler's syndrome, Scheie syndrome, Hurler-Scheie syndrome, Sanfillippo A syndrome, Morquio A syndrome, Morquio B syndrome, etc.), Niemann-Pick disease, Schindler disease, and Pompe disease.

The invention provides a novel gene therapy drug construct for treating a type 3A mucopolysaccharidosis. The novel gene therapy drug construct can efficiently express recombinant human heparanase-N-sulfatase (SGSH) for preparation of a gene therapy drug product mediated by an adeno-associated virus vector.

The invention relates to a DNA library for detecting and diagnosing pathogenic genes of skeletal development disorders through a targeted high-throughput sequencing technology and application thereof. The library comprises 507 pathogenic genes of skeletal development disorders. According to the invention, 507 pathogenic genes of skeletal development disorders are preferably selected, a probe pool is designed, a target region library for 507 pathogenic genes of skeletal development disorders is established, and the library utilizes the high-throughput sequencing technology for sequencing to find pathogenic mutations, thereby providing genetic and molecular biological bases for clinical diagnosis. The DNA library provided by the invention has the characteristics of accuracy, rapidness, flexibility and low cost. The 507 genes involved in the invention include pathogenic genes of genetic diseases with skeletal development disorders as clinical manifestations, such as collagen dysplasia, metaphysic dysplasia, osteogenesis imperfecta and bone density reduction, mucopolysaccharide storage disease, cartilage dysplasia and the like, and have important significance and clinical value for diagnosis, differential diagnosis and accurate treatment of skeletal development disorders.

The invention discloses an AAV (Adeno-Associated Virus) double-vector gene treatment system and application thereof to treatment of type II MPS (Mucopolysaccharidosis). The AAV binary vector gene treatment system consists of a first vector and a second vector, wherein the first vector is an AAV vector carrying specific sgRNA (Small Guide RNA) targeting a human Alb (Albumin) gene cleavage site andan ORF (Open Reading Frame) sequence of a human IDS (Iduronate-2-Sulfatase); the cleavage site is located between a second site basic group and a third site basic group of an Alb gene translation initiation codon atg; and the second vector is an AAV vector carrying Cas9. The AAV double-vector gene treatment system using CRISPR-Cas9 as a gene editing tool has the advantages that the plasma IDS enzyme activity and the liver tissue IDS expression of MPSII model mice can be obviously improved; and after the treatment, the mouse phenotype and bone development are improved. The invention provides aneffective treatment measure for clinic treatment of the type II MPS.

Provided herein are methods of treating, preventing, ameliorating or managing mucopolysaccharidosis (nmMPS) disease, comprising administering a 1,2,4-oxadiazole benzoic acid to a patient having a nmMPS. In particular, provided herein are methods of treating, preventing, ameliorating or managing a MPS.

Provided herein is a recombinant AAV (rAAV) comprising an AAV capsid and a vector genome packaged therein, wherein the vector genome comprises an AAV 5′ inverted terminal repeat (ITR), an engineered nucleic acid sequence encoding a functional human N-acetyl-alpha-glucosaminidase (hNAGLU), a regulatory sequence which direct expression of hNAGLU in a target cell, and an AAV 3′ ITR. Also provided is a pharmaceutical composition comprising a rAAV as described herein in a formulation buffer, and a method of treating a human subject diagnosed with MPS IIIB.

The invention provides compositions and methods for treating MPS I.

The present invention provides methods and compositions for the treatment of mucopolysaccharidoses (MPS).