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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METHODS OF REDUCING NEUROLOGICAL DAMAGE IN WILSON DISEASE PATIENTS
PCT/US2020/061680 / ALEXION PHARMACEUTICALS, INC.
Methods of treating copper-induced neurological damage observed in copper metabolism-associated diseases or disorders. This disclosure relates to reducing the copper-induced neurological damage in Wilson disease.
USE OF SGLT2 INHIBITORS TO TREAT PRIMARY BILLIARY CHOLANGITIS
PCT/US2020/061487 / AVOLYNT
Compositions of SGLT2 inhibitors and their use for treating primary biliary cholangitis (PBC) are described here. The SGLT2 inhibitor compositions, including oral dosage forms, contain a therapeutically effective dose of a SGLT2 inhibitor for preventing, partially ameliorating or fully ameliorating symptoms of PBC, including of the hepatic encephalopathy, development of varices, jaundice, variceal bleeding cholangiocarcinoma, hepatocellular carcinoma, evidence of cirrhosis, and colorectal cancer.
COMPOUNDS FOR USE IN THE TREATMENT OF ACUTE INTERMITTENT PORPHYRIA
PCT/GB2020/052975 / VESTLANDETS INNOVASJONSSELSKAP AS
Compounds of formula (I), their pharmaceutically acceptable salts and prodrugs thereof for use in preventing, inhibiting or treating a disease caused by a mutation in the gene coding for hydroxymethylbilane synthase, in particular for preventing, inhibiting or treating acute intermittent porphyria
MASITINIB FOR THE TREATMENT OF SICKLE CELL DISEASE
PCT/EP2020/082981 / AB SCIENCE
The present invention relates to a 2-aminoarylthiazole derivative or a pharmaceutically acceptable salt or solvate thereof, in particular masitinib or a pharmaceutically acceptable salt or solvate thereof, for use in the treatment of sickle cell disease in a patient in need thereof. The present invention also relates to a 2-aminoarylthiazole derivative or a pharmaceutically acceptable salt or solvate thereof, in particular masitinib or a pharmaceutically acceptable salt or solvate thereof, for use in the prevention and/or treatment of acute chest syndrome (ACS) in a sickle cell disease patient in need thereof.
DUAL SUPRAMOLECULAR NANOPARTICLE VECTORS ENABLE CRISPR/CAS9-MEDIATED KNOCKIN OF RETINOSCHISIN 1 GENE-A POTENTIAL NON-VIRAL THERAPEUTIC SOLUTIONS FOR X-LINKED JUVENILE RETINOSCHISIS
PCT/US2020/060536 / THE REGENTS OF THE UNIVERSITY OF CALIFORNIA
Compositions, systems and methods for delivering CRISPR/Cas9-based genome editing system and a donor protein to a cell.
LENTIVIRAL VECTORS IN HEMATOPOIETIC STEM CELLS TO TREAT X-LINKED CHRONIC GRANULOMATOUS DISEASE
PCT/US2020/060263 / THE REGENTS OF THE UNIVERSITY OF CALIFORNIA
A lentiviral vector for the treatment of X-linked chronic granulomatous disease (X-CGD) is provided. In certain embodiments the vector comprises an expression cassette comprising a nucleic acid construct comprising a CYBB promoter or effective fragment thereof; and a nucleic acid that encodes gp91phox operably linked to the CYBB promoter or promoter fragment.
OLEIC ACID DERIVATIVES AS TREATMENTS FOR FRIEDREICH ATAXIA AND INHIBITORS OF FERROPTOSIS
PCT/US2020/060195 / THE TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA
Compounds of Formula I or Formula II, compositions comprising such compounds, and to methods of use thereof for treating neurdegenerative disorders, such as Friedreich ataxia.
WO/2021/097054 & WO/2021/097057
5-OR 6-MEMBERED HETEROARYLAMINOSULFONAMIDES FOR TREATING CONDITIONS MEDIATED BY DEFICIENT CFTR ACTIVITY
PCT/US2020/060180 / GENZYME CORPORATION
Heteroaryl compounds, pharmaceutically acceptable salts thereof, and pharmaceutical preparations thereof; compositions and the use of such compounds in methods of treating diseases and conditions mediated by deficient CFTR activity, in particular cystic fibrosis.
GOLD NANOCLUSTER IN THE TREATMENT OF FRIEDREICH’S ATAXIA
PCT/IB2020/060579 / UNIVERSITA’ DEGLI STUDI DI MILANO
Superstructured gold clusters Au-pX, consisting of gold atoms and at least one ligand, where said gold atoms in said cluster are in a number between 2 and 100 or the dimensions of said cluster are smaller than 2 nm, for use in the treatment of pathologies related to oxidative stress. In a preferred embodiment, said Au-pX superstructured gold clusters are for use in the treatment of Friedreich’s ataxia.
CRISPR AND AAV STRATEGIES FOR X-LINKED JUVENILE RETINOSCHISIS THERAPY
PCT/US2020/059568 / REGENERON PHARMACEUTICALS, INC.
Nucleic acid constructs and compositions that allow insertion and/or expression of a retinoschisin coding sequence are provided. Nuclease agents targeting RS1 loci are provided. Compositions and methods of using such constructs for integration into a target genomic locus and/or expression in a cell are also provided. Methods of treating X‐linked juvenile retinoschisis using the nucleic acid constructs and compositions are also provided.
PAPD5 INHIBITION AS A TREATMENT FOR DYSKERATOSIS CONGENITA, APLASTIC ANEMIA AND MYELODYSPLASTIC SYNDROME CAUSED BY REDUCED TELOMERASE RNA LEVELS
PCT/US2020/059089 / THE REGENTS OF THE UNIVERSITY OF COLORADO
Novel therapeutic strategies, systems, and compositions for the treatment of telomere-associated disease or disorder through the inhibition of PAPD5/7. the present invention includes the novel therapeutic application of PAPD5 inhibitors for the treatment of disease conditions that implicate reduced telomerase RNA levels. In particular, the present invention includes the novel therapeutic application of PAPD5 inhibitors for the treatment of dyskeratosis congenita, aplastic anemia, and myelodysplastic syndrome. In one preferred embodiment, the present invention includes the novel therapeutic application of RG7834 for the treatment of disease conditions that implicate reduced telomerase RNA levels. In particular, the present invention includes the novel therapeutic application of RG7834 for the treatment of dyskeratosis congenita, aplastic anemia, and myelodysplastic syndrome.
TREATMENTS FOR SYSTEMIC SCLEROSIS
PCT/US2020/058967 / ACCELERON PHARMA INC.
Methods of treating systemic sclerosis (SSc) using ΤβRΙΙ antagonists comprising a heterologous domain and a truncated, ligand -binding portion of the extracellular domain of ΤβRΙΙ polypeptide useful to selectively antagonize a ΤβRΙΙ ligand. The disclosure further provides methods for treating one or more complications of SSc, including interstitial lung disease (ILD), with ΤβRII antagonists of the present disclosure.
USE OF VETO CELLS FOR THE TREATMENT OF SICKLE CELL DISEASE
PCT/IL2020/051151 / YEDA RESEARCH AND DEVELOPMENT CO. LTD.
A method of treating or preventing a sickle cell disease in a subject in need thereof is disclosed. The method comprising: (a) transplanting immature hematopoietic cells into the subject; and (b) administering to the subject a therapeutically effective amount of an isolated population of non-GVHD inducing anti-third party cells comprising cells having a central memory T-lymphocyte (Tcm) phenotype, the cells being tolerance inducing cells and capable of homing to the lymph nodes following transplantation.
COMBINED THERAPY FOR MUSCULAR DISEASES
PCT/EP2020/081200 / ASSOCIATION INSTITUT DE MYOLOGIE
The present invention relates to the treatment of muscular diseases.
METHODS AND COMPOSITIONS FOR TREATING A PREMATURE TERMINATION CODON-MEDIATED DISORDER
PCT/US2020/058415 / TEVARD BIO, INC.
Modified tRNAs and the use of modified tRNAs to express in a mammalian cell a functional gene product.
ZINC FINGER NUCLEASE VARIANTS FOR TREATING OR PREVENTING LYSOSOMAL STORAGE DISEASES
PCT/US2020/058361 /SANGAMO THERAPEUTICS, INC.
2-in-1 zinc finger nuclease variants and methods of treating and/or preventing a lysosomal storage disorder using said zinc finger nuclease variants.
GENE THERAPY APPROACHES TO MUCOLIPIDOSIS IV (MLIV)
PCT/US2020/057839 / THE GENERAL HOSPITAL CORPORATION
Compositions comprising AAV vectors comprising a sequence encoding mucolipin 1, and methods of use thereof for gene therapy of Mucolipidosis IV (MLIV).
METHODS AND COMPOSITIONS FOR TREATMENT OF RETT SYNDROME
PCT/US2020/057627 / ACADIA PHARMACEUTICALS INC.
Methods of treating Rett syndrome comprising administering trofinetide to a subject in need thereof in which a dosage is provided that may reduce or avoid underexposure, e.g., in low body weight subjects, and/or provide other benefits.
USE OF NOVEL COMPOUND, FOR PREVENTING, IMPROVING OR TREATING AMYOTROPHIC LATERAL SCLEROSIS
PCT/KR2020/015014 / PRG S&TECH INC.
A novel compound for preventing, improving or treating amyotrophic lateral sclerosis (ALS). The present inventors have found that SOD1 aggregation is one of the important causes of ALS, and have proposed the possibility that WT-SOD1 aggregation, caused by suppressing the regulation of intracellular stress or TDP-43, may be a cause of sALS. In addition, the present inventors have discovered the novel compound PRG-A-01 (SLC-B036) as a SOD1 aggregation and misfolding inhibitor. The compound exhibited a protective effect against muscle weakness and movement disorder in an ALS mouse model. According to the result of a histological analysis, intraspinal nerves were maintained by means of a treatment using PRG-A-01 (SLC-B036). In addition, the present inventors have obtained a candidate compound (PRG-A-04) which can be a more optimized drug. Consequently, the compound of the present invention may be usefully employed in developing a therapeutic agent for ALS.
THE USE OF A SPLICING MODULATOR FOR A TREATMENT SLOWING PROGRESSION OF HUNTINGTON’S DISEASE
PCT/IB2020/060210 / NOVARTIS AG
Use of a splicing modulator for a treatment slowing progression of Huntington’s disease.
TREATMENT OF RENAL CYSTIC DISEASE
PCT/AU2020/051162 / MONASH UNIVERSITY
Compositions, methods, uses and kits for the treatment of renal cystogenesis. In particular, the compositions, methods, uses and kits are particularly useful, but not limited to, the treatment or prevention of Polycystic Kidney Disease. In one aspect, the prevent invention provides a method of minimising or delaying renal cystogenesis in a subject in need thereof, the method comprising inhibiting AKT in the subject, or reducing the level of Aurora kinase in the subject, thereby minimising or delaying renal cystogenesis.