19 results about "Dmd gene" patented technology

We provide gene therapy for the treatment of muscular dystrophy, including but not limited to Duchenne muscular dystrophy (DMD). [Solution] This disclosure provides a recombinant adeno-associated virus (rAAV) comprising a nucleic acid molecule that delivers a nucleic acid encoding a U7-based snRNA, which is a nucleic acid that induces exon skipping for use in the treatment of muscular dystrophy, including but not limited to DMD, resulting from any mutation suitable for skipping exon 44 of the DMD gene (DMD exon 44), including but not limited to mutations involved in or affecting DMD exon 44.

Described herein in various embodiments are compositions comprising (a) a cyclic peptide; and (b) an antisense compound, wherein the antisense compound targets exon 44 of the DMD gene in a pre-mRNA sequence.

The present application discloses a digital PCR detection reagent for DMD gene detection, which relates to the technical field of gene detection and includes exon primer and probe sequences shown in SEQ ID NO: 1 to NO: 237 and internal reference probe sequences shown in SEQ ID NO: 238 to SEQ ID NO: 297. On the basis of optimizing the design of primers and probes, the present invention optimizes the signal resolution ability of digital PCR. For 79 exons of DMD, 1 pair of primer-probe pairs is designed for each exon respectively for copy number quantitative detection based on the technology of ultra-multiplex PCR. At the same time, 20 pairs of primer-probes are designed for copy number quantitative detection by selecting 20 different sites in the fragments on the X chromosome that do not contain the DMD gene as internal references, realizing the multiplex quantification of all exons of DMD.

To provide improved compositions and methods for treating muscular dystrophy.SOLUTION: For example, the disclosure provides methods for treating Duchenne muscular dystrophy patients having a mutation in the DMD gene that is suited to exon 45 skipping by administering an effective amount of casimersen. The present disclosure is based on clinical evidence showing that treatment with casimersen, which is an exon 45 skipping antisense oligonucleotide, significantly increased dystrophin protein in patients over baseline. Furthermore, a positive correlation between exon skipping and de novo dystrophin protein was observed.SELECTED DRAWING: None

Some aspects of the present disclosure relate to complexes, and other aspects relate to formulations (e.g., aqueous form, lyophilized form) comprising such complexes (e.g., wherein each complex has an exemplary formula shown below) that comprise a phosphodiamide morpholino oligomer (e.g., an anti-TfR1 antibody) covalently linked to an antibody (e.g., an anti-TfR1 antibody). The method can be used for targeting DMD). The use of these formulations for treating a subject having a mutated DMD allele associated with Dische internal muscular dystrophy is also provided. I) # imgabs0 #

The disclosure provides for methods of assessing the risks (e.g., associated with a gene therapy for the treatment of DMD (e.g., delandistrogene moxeparvovec) comprising genotyping the DMD gene and analyzing the HLA type of a subject in need of the gene therapy (e.g., delandistrogene moxeparvovec).

Compositions and methods for treating Duchenne Muscular Dystrophy (DMD) and excising exon 53 of the DMD gene are encompassed.

The disclosure relates to the field of gene therapy for the treatment of a muscular dystrophy including, but not limited to, Duchenne Muscular Dystrophy (DMD). More particularly, the disclosure provides nucleic acids, including nucleic acids encoding U7-based small nuclear ribonucleic acids (RNAs) (snRNAs), U7-based snRNAs, and vectors (including, but not limited to, recombinant adeno-associated virus (rAAV)), nanoparticles, extracellular vesicles, or exosomes comprising the nucleic acids to induce exon-skipping for use in treating a muscular dystrophy including, but not limited to, DMD, resulting from a mutation amenable to skipping exon 17 of the DMD gene (DMD exon 17) including, but not limited to, any mutation involving, surrounding, or affecting DMD exon 17.

Aspects of the present disclosure relate to conjugates, and other aspects relate to formulations (e.g., aqueous, lyophilized forms) comprising such conjugates (e.g., each conjugate represented by the exemplary formula below) comprising a phosphorodiamidate morpholino oligomer (e.g., useful for targeting DMD) covalently linked to an antibody (e.g., an anti-TfR1 antibody). Also provided is the use of these formulations for treating subjects with a mutated DMD allele associated with Duchenne muscular dystrophy. JPEG2026503873000028.jpg63163

The present invention is applicable to the technical field of molecular biology, and particularly provides an oligonucleotide and a conjugate comprising the oligonucleotide. The oligonucleotide is configured to bind to a precursor mRNA (pre-mRNA) of a DMD gene, thereby promoting the increase or restoration of the expression or activity of dystrophin. A pharmaceutical composition comprising the oligonucleotide or the conjugate can be used for treating Duchenne muscular dystrophy and / or Becker muscular dystrophy.

The present disclosure provides gene therapy vectors, such as recombinant adeno-associated virus (rAAV) for expressing a human micro-dystrophin gene. The present disclosure also provides compositions and methods of using these rAAV to treat muscular dystrophy, such as, e.g., Duchenne Muscular Dystrophy. The present disclosure also provides genotyping a subject's DMD gene to determine if rAAV gene therapy should be contraindicated.

Aspects of the disclosure relate to complexes and other aspects relate to formulations (e.g., aqueous, lyophilized forms) comprising such complexes (e.g, wherein each complex is of the exemplary formula shown below) comprising a phosphorodiamidate morpholino oligomer (e.g, useful for targeting DMD) covalently linked to an antibody (e.g., anti-TfR1 antibody). Also provided are uses of these formulations for treating a subject having a mutated DMD allele associated with Duchenne Muscular Dystrophy. (I)

The invention, in general, relates to the field of Adeno-associated virus (AAV). More particularly, the present invention relates to bioengineered AAV9 vector carrying optimised transgene for Duchenne muscular dystrophy gene therapy. The present invention particularly provides an engineered AAV9 vector containing a microdystrophin therapeutic gene optimized for codon usage, under the control of a ubiquitous promoter and a Kozak sequence, aimed at gene therapy for Duchenne muscular dystrophy. The improved AAV9 vector amplifies the therapeutic efficacy of DMD gene therapy.

Described herein are compositions and methods for treating Duchenne muscular dystrophy (DMD) in a subject with DMD or a carrier of the DMD gene using (Z)-endoxifen. (Z)-endoxifen modulates estrogen receptor activity and protein kinase signaling, stabilizes calcium levels, and reduces oxidative stress, which mitigate muscle deterioration associated with DMD. A therapeutically effective amount of (Z)-endoxifen is administered, either alone or in combination with other treatments such as corticosteroids or ataluren, in various formulations including oral, topical, and inhalation forms. The (Z)-endoxifen may be formulated as sustained or delayed-release to enhance therapeutic efficacy.

The disclosure provides for methods of assessing the risks (e.g., associated with a gene therapy for the treatment of DMD (e.g., delandistrogene moxeparvovec) comprising genotyping the DMD gene and analyzing the HLA type of a subject in need of the gene therapy (e.g., delandistrogene moxeparvovec).

The present disclosure provides gene therapy vectors, such as recombinant adeno-associated viruses (rAAV) for expression of human micro anti-amyotrophin genes. The disclosure also provides compositions and methods for treating muscular dystrophy (e.g., Duchenne muscular dystrophy) using these rAAVs. The disclosure also provides for genotyping the DMD gene in a subject to determine if rAAV gene therapy should be tabounded.

The present disclosure provides, among other things, improved compositions and methods for treating muscular dystrophy. For example, the disclosure provides methods for treating Duchenne muscular dystrophy patients having a mutation in the DMD gene that is amenable to exon 45 skipping by administering an effective amount of casimersen.

Described herein are EEV-cargo conjugates and compositions thereof comprising (a) an endosomal escape vehicle (EEV) comprising a cyclic cell penetrating peptide (cCPP); and (b) a cargo comprising an oligonucleotide that is complementary to a target sequence of a pre-mRNA transcript of a DMD gene, wherein the target sequence comprises at least a portion of the 5' flanking intron of exon 50, at least a portion of exon 50, at least a portion of the 3' flanking intron of exon 50, or a combination thereof. Also described herein are methods of treating DMD using the compounds described herein.

The present invention is applicable to the technical field of molecular biology, and specifically provides an oligonucleotide configured to bind to a precursor mRNA (pre-mRNA) of a DMD gene, thereby promoting the improvement or restoration of the expression or activity of a dystrophin, and a conjugate comprising the oligonucleotide. A pharmaceutical composition comprising the oligonucleotide or the conjugate can be used for the treatment of Duchenne type muscular dystrophy and / or Becker type muscular dystrophy.