These PCT patent documents covering potential treatments, diagnostics, or animal and cell culture models for rare diseases as a central theme have been extracted from the WIPO PatentScope database. Abstracts are shortened from the published ones.
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COMPOSITIONS AND METHODS OF TREATING MUSCLE DYSTROPHY
PCT/US2021/024303 / AVIDITY BIOSCIENCES, INC.
Disclosed herein are polynucleic acid molecules, pharmaceutical compositions, and methods for treating muscle dystrophy (DM1).
AAV-NAGLU VECTORS FOR TREATMENT OF MUCOPOLYSACCHARIDOSIS IIIB
PCT/US2021/023383 / THE UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL
Viral vectors for delivery of α-N-acetylglucosaminidase (NAGLU) to a subject. In some aspects the NAGLU sequence is optimized for expression in human cells. The invention further relates to methods of using the vector to increase secretion of NAGLU from a cell and for treatment and prevention of mucopolysaccharidosis IIIB.
PHARMACEUTICAL COMPOSITION FOR TREATING DYSCHROMATOSIS SYMMETRICA HEREDITARIA, DYSCHROMATOSIS SYMMETRICA HEREDITARIA MODEL MOUSE, AND SCREENING METHOD FOR COMPOUND FOR TREATING DYSCHROMATOSIS SYMMETRICA HEREDITARIA
PCT/JP2021/010546 / NATIONAL UNIVERSITY CORPORATION TOKAI NATIONAL HIGHER EDUCATION AND RESEARCH SYSTEM
A pharmaceutical composition, a model mouse, and a screening method for a compound for treating dyschromatosis symmetrica hereditaria which contains at least one compound selected from the group consisting of JAK inhibitors and STAT inhibitors.
USE OF A THIENOPYRIDONE DERIVATIVE IN THE TREATMENT OF ADRENOLEUKODYSTROPHY OR ADRENOMYELONEUROPATHY
PCT/EP2021/057988 / POXEL
A thienopyridone derivative, or a pharmaceutical composition comprising the same, in the treatment of genetic neurodegenerative diseases selected from adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN).
PCT/EP2021/057497 / ANTABIO SAS
Combinations and pharmaceutical compositions comprising (i) a compound which is an indane according to Formula (I) or a pharmaceutically acceptable salt thereof; and (ii) one or more CFTR modulator; wherein R1, R2, R3, R4, n, Lk, (A), G and m are as defined herein. Also provided are therapeutic uses of such combinations and compositions in the treatment of conditions such as cystic fibrosis.
METHOD AND MEDICINE FOR TREATING HUNTINGTON’S DISEASE
PCT/CN2021/082725 / TALENGEN INTERNATIONAL LIMITED
A method and medicine for treating Huntington’s disease, comprising administering to a subject a therapeutically effective amount of a component of a plasminogen activation pathway or a related compound thereof. Also provided are a medicine containing the component or the compound for treating Huntington’s disease, a pharmaceutical composition, an article of manufacture, and a kit.
APPLICATION OF SINGLE-BASE EDITING-MEDIATED SPLICING REPAIR IN PREPARATION AND TREATMENT OF SPINAL MUSCULAR ATROPHY
PCT/CN2021/077622 / CENTER FOR EXCELLENCE IN BRAIN SCIENCE AND INTELLIGENCE TECHNOLOGY, CHINESE ACADEMY OF SCIENCES
A splicing repair technology mediated by using single-base editing. Editing is performed on exon 7 of the SMN2 gene and the expression of the functional SMN2 protein is successfully increased by mutating some of the bases of the exon.
IVACAFTOR GLYCOSIDES, METHODS OF MAKING, AND USES THEREOF IN TREATING CYSTIC FIBROSIS
PCT/US2021/022416 / DOUBLERAINBOW BIOSCIENCES INC.
Ivacaftor glycosides and methods of making ivacaftor glycosides are disclosed. Suitable monosaccharides include allose, apiose, arabinose, fructose, fucitol, fucose, galactose, glucose, glucuronic acid, mannose, A-acetylglucosamine, rhamnose, or xylose. Uridine diphosphate glycosyl transferases can catalyze formation of either an alpha or beta glycosidic bond.
COMPOSITIONS AND METHODS OF TREATING FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY
PCT/US2021/022214 / AVIDITY BIOSCIENCES, INC.
Polynucleic acid molecules, pharmaceutical compositions, and methods for treating Facioscapulohumeral muscular dystrophy.
METHODS OF TREATING MITOCHONDRIAL DISORDERS
PCT/US2021/021850 / THE REGENTS OF THE UNIVERSITY OF CALIFORNIA Inventor CHERQUI, Stephanie
Methods for treating a disease or disorder associated with mitochondrial dysfunction through ex vivo introduction of a nucleic acid molecule into hematopoietic stem and progenitor cells (HSPCs) followed by transplantation of the HSPCs into a subject in need of treatment. The nucleic acid molecule may include a functional human frataxin (hFXN) or may include a gene editing system that when transfected into the cells removes a trinucleotide extension mutation of endogenous hFXN.
PHARMACEUTICAL COMPOSITION, FOR PREVENTING OR TREATING CHARCOT-MARIE-TOOTH DISORDER, COMPRISING MESENCHYMAL STEM CELLS OR INSULIN SECRETED BY MESENCHYMAL STEM CELLS
PCT/KR2021/000941 / SAMSUNG LIFE PUBLIC WELFARE FOUNDATION
A pharmaceutical composition for preventing or treating Charcot-Marie-Tooth disorder, comprising mesenchymal stem cells or insulin secreted by mesenchymal stem cells.
REGULATOR OF EXPRESSION AND/OR FUNCTION OF SCN1A GENE
PCT/JP2021/010901 / SUMITOMO DAINIPPON PHARMA CO., LTD.
A single-stranded antisense oligonucleotide or pharmaceutically acceptable salt thereof for promoting expression and/or regulating functioning of the voltage-dependent sodium channel α1 subunit gene, wherein the single-stranded antisense oligonucleotide includes a gap region, a 3′ wing region bonded to the 3′ end of the gap region, and a 5′ wing region bonded to the 5′ end of the gap region, the gap region being a 5-20 mer nucleic acid in which the sugar part is deoxyribose, the 3′ wing region and the 5′ wing region each being a 1-5 mer modified nucleic acid, and the modified nucleic acid in each of the 3′ wing region and the 5′ wing region including at least one selected from the group consisting of AmNA, GuNA, and scpBNA.
THERAPEUTIC TREATMENT OF CHROMATINOPATHIES
PCT/EP2021/056461 / UNIVERSITA’ DEGLI STUDI DI TRENTO
Compounds selected from inhibitors of the Ataxia Telangiectasia and Rad3 -related (ATR) protein and inhibitors of the Chk1 protein were found to be effective in the therapeutic treatment of a chromatinopathy preferably selected from Kabuki Syndrome (KS), Kabuki Syndrome 2 (KS 2), Charge Syndrome (CS), Rubinstein-Taybi syndrome (RT) and Cornelia de Lange syndrome (CdL).
TREATMENT OF FABRY DISEASE WITH AAV GENE THERAPY VECTORS
PCT/US2021/022117 / BIOMARIN PHARMACEUTICAL INC.
Compositions and methods of treating an α-galactosidase A deficiency by normalizing levels of α-galactosidase A protein in a subject having Fabry Disease.
MATERIALS AND METHODS FOR THE TREATMENT OF GAUCHER DISEASE
PCT/US2021/021622 / UNIVERSITY OF CINCINNATI
A composition including saposin C, dioleoylphosphatidylserine (SapC-DOPS), and acid β- glucosidase (GCase). Also provided is a nanovesicle including saposin C, dioleoylphosphatidylserine, and acid β-glucosidase and pharmaceutical compositions including the SapC-DOPS-GCase nanovesicles.
GENE REPLACEMENT THERAPY FOR FOXG1 SYNDROME
PCT/US2021/021358 / UNIVERSITY OF MASSACHUSETTS
Compositions and methods for promoting expression of functional Forkhead box G1 (FOXG1) protein in a subject. In some embodiments, the disclosure provides methods of treating a subject having FOXG1 deficiency.
GENE THERAPY OF NIEMANN-PICK DISEASE TYPE C
No PCT/GB2021/050597 / UCL BUSINESS LTD
Expression constructs and vectors for the treatment and/or prevention of diseases that are associated with a loss of NPC1 function, such as the lysosomal storage disorder Niemann-Pick type C (NPC) disease.
METHODS OF TREATING FABRY DISEASE IN PATIENTS HAVING A MUTATION IN THE GLA GENE
PCT/US2021/020984 / AMICUS THERAPEUTICS, INC.
Methods comprise administering to a patient a therapeutically effective dose of a pharmacological chaperone for α-galactosidase A, wherein the patient has a mutation in the nucleic acid sequence encoding α-galactosidase A. Also described are uses of pharmacological chaperones for the treatment of Fabry disease and compositions for use in the treatment of Fabry disease.
METHOD OF TREATING AMYOTROPHIC LATERAL SCLEROSIS WITH MYELOPEROXIDASE INHIBITOR
PCT/US2021/020979 / BIOHAVEN THERAPEUTICS LTD.
A method for treating amyotrophic lateral sclerosis, including administering to a subject in need of such treatment an effective amount of a myeloperoxidase inhibitor or a pharmaceutically acceptable salt thereof.
COMPOSITIONS AND METHODS FOR THE TREATMENT OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY
PCT/US2021/020634 / ARCTURUS THERAPEUTICS, INC.
Compositions and methods include a lipid formulation and messenger RNA (mRNA) encoding an OTC enzyme. The lipid formulations can comprise an ionizable cationic lipid in a lipid nanoparticle encapsulating the mRNA.
USE OF A GROUP OF MARKERS FOR DIAGNOSING AND ADJUSTING TREATMENT OF PRIMARY BILIARY CHOLANGITIS, PHARMACEUTICAL COMPOSITION AND SOLID DOSAGE FORM FOR TREATING PRIMARY BILIARY CHOLANGITIS
PCT/IB2021/051918 / ACTIVE TREND LIMITED
Proposed is the use of a group of markers: IL-6, Nf-kB, MCP-1/CCL2, Bcl-2 for diagnosing and adjusting treatment of primary biliary cholangitis. Also proposed are the determination of a treatment regimen for primary biliary cholangitis, as well as a pharmaceutical composition and a solid dosage form for treating primary biliary cholangitis, which contain ursodeoxycholic acid and obeticholic acid.
LOW DOSE HUMAN INTERLEUKIN-2 FOR THE TREATMENT OF AMYOTROPHIC LATERAL SCLEROSIS
PCT/EP2021/055570 / CENTRE HOSPITALIER UNIVERSITAIRE DE NIMES
Human interleukin-2 (IL-2) for use in the treatment of amyotrophic lateral sclerosis in a human subject, wherein each dose of human IL-2 administered to said subject is between 0.1 x106 to 3×106 international units (IU). Human IL-2 is preferably administered in cycles of 3 to 7 days of once-daily sub-cutaneous injection of 0.1 x106 to 3×106 IU human IL-2. The treatment does not comprise the administration of regulatory T cells to the subject, who is preferably also under riluzole treatment. The administered human IL-2 is preferably not complexed with anti-hIL-2 antibodies and the treatment also preferably does not comprise the administration of rapamycin or any other suppressive agent of effector T cells (Teffs) to the subject. The treatment permits to decrease plasma CCL2 concentration and to change the polarization of blood macrophages from an M1 inflammatory phenotype to an anti-inflammatory M2 phenotype involved in tissue repair.
METHODS FOR TREATING GAIN-OF-FUNCTION DISORDERS COMBINING GENE EDITING AND GENE THERAPY
PCT/US2021/020158 / BLUEALLELE, LLC
Methods and compositions for modifying the expression of endogenous genes or modifying the coding sequence of endogenous genes.
KCNT1 INHIBITORS AND METHODS OF USE
PCT/US2021/019814 / PRAXIS PRECISION MEDICINES, INC.
Compounds and compositions useful for preventing and/or treating a neurological disease or disorder, a disease or condition relating to excessive neuronal excitability, and/or a gain-of-function mutation in a gene (e.g., KCNT1). Methods of treating a neurological disease or disorder, a disease or condition relating to excessive neuronal excitability, and/or a gain-of-function mutation in a gene such as KCNT1 are also provided herein.
COMPOSITIONS AND METHODS FOR TREATING MISFOLDED PROTEIN OCULAR DISORDERS
PCT/US2021/019813 / CASE WESTERN RESERVE UNIVERSITY
A method of treating an inherited ocular disorder associated with or caused by a misfolded ocular protein in a subject in need thereof includes administering to the subject a compound that promotes clearance of misfolded ocular protein.
METHODS OF TREATING TUBEROUS SCLEROSIS COMPLEX WITH CANNABIDIOL AND EVEROLIMUS
PCT/GB2021/050509 / GW RESEARCH LIMITED
A cannabidiol (CBD) preparation for use in the treatment of seizures associated with tuberous sclerosis complex (TSC). In particular the invention comprises administering everolimus in combination with a reduced dose of cannabidiol (CBD). In an alternative embodiment the invention relates to the treatment of seizures associated with tuberous sclerosis complex in an everolimus-naive patient which is currently treated with CBD. Preferably the dose of everolimus is reduced by at least 10%.
ENZYME REPLACEMENT THERAPY FOR TREATING POMPE DISEASE
PCT/EP2021/054893 / ELEVA GMBH
A method of treating a patient with Pompe disease comprising providing a composition of a recombinant acid alpha-glucosidase, which comprises a glycosylation structure of formula 1, wherein a “G” represents N-acetylglucosamine, a “M” represents mannose, and a “G/M” represents a terminal N-acetylglucosamine or terminal mannose, wherein one but not both of the “G/M” subunits may be absent in which case the present “G/M” subunit may represent two terminal mannose subunits, wherein one or more of the “G” or “M” subunits are not α1,3-fucosylated, not α1,6-fucosylated and not β1,2-xylosylated, and wherein any one of “G”, “M” or “G/M” may be methylated; and said glycosylation structure of formula 1 is present in at least 20% of all glycosylation structures of the recombinant acid alpha-glucosidases of the composition; and administering the composition to the patient.
GENE THERAPY FOR MAPLE SYRUP URINE DISEASE
PCT/EP2021/054797 / INSERM
The inventors herein characterized the Bckdha -/- mouse and Bckdhb-/- mouse recapitulating the classical forms of MSUD. As a proof of concept, they developed a (liver-directed) AAV gene therapy based on the transfer of human BCKDHA (hBCKDHA) or BCKDHB (hBCKDHB) mediated by AAV8 during immediate neonatal period in Bckdha -/- or Bckdhb-/- mice. The inventors demonstrated that hBCKDHA gene transfer completely rescued the lethal early-onset phenotype of Bckdha -/- mice allowing long-term survival to age 12 months, at which they were systematically sacrificed, without overt phenotypic abnormalities. They also demonstrated that hBCKDHB gene transfer exhibited similar survival and a normal growth without overt phenotypic abnormalities at age 3 months, with a dramatic improvement of the biochemical phenotype. The present invention relates to a method of treating MSUD by gene therapy.