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 TREATMENT OF NEUROFIBROMATOSIS TYPE 1 (NF1) AND NF1-MEDIATED CONDITIONS AND COMPOSITIONS FOR USE IN SUCH METHODS
PCT/US2020/051827 / THE UAB RESEARCH FOUNDATION
Methods of exon skipping and exon retention and compositions for use in such methods. Such methods of exon skipping and exon retention may be used in the methods of treatment discussed herein. The present disclosure further provides new therapeutic compounds, particularly oligonucleotides, including antisense oligonucleotides,
ACTIVATING PYRUVATE KINASE R
PCT/US2020/051579 / FORMA THERAPEUTICS, INC.
The compound (S)-1-(5-((2,3-dihydro-[1,4]dioxino[2,3-b]pyridin-7-yl)sulfonyl)-3,4,5,6- tetrahydropyrrolo[3,4-c]pyrroll-2(1H)-yl)-3-hydroxy-2-phenylpropan-1-one, or a pharmaceutically acceptable salt thereof, is useful to increase the affinity of hemoglobin for oxygen. Methods and compositions for the treatment of a hemoglobinopathies are provided herein, including certain pharmaceutical compositions for activating PKR.
IMPROVED ALPHA-GALACTOSIDASE PROTEIN FOR ENZYME REPLACEMENT THERAPY (ERT) AND METHODS OF USE
PCT/US2020/051570 / THE MEDICAL COLLEGE OF WISCONSIN, INC.
Provides less immunogenic mutant α-galactosidase A protein (α- gal), methods of making and methods of use. The less immunogenic mutant α-gal of the present invention provides a reduced immune response when administered to a subject.
USE OF A PPAR-DELTA AGONIST IN THE TREATMENT OF KIDNEY DISEASE
PCT/US2020/051458 / RENEO PHARMACEUTICALS, INC.
Use of a PPAR-delta agonist in the treatment of Alport syndrome, Goodpasture syndrome, thin basement membrane nephropathy (TBMN), focal segmental glomerulosclerosis (FSGS), benign familial hematuria (BFH), or post-transplant anti-GBM (Glomerular Basement Membrane) nephritis
MRNA ENCODING ENGINEERED CFTR
PCT/US2020/051277 / TRANSLATE BIO, INC.
Improved methods and pharmaceutical compositions for treating cystic fibrosis based on codon optimized mRNA encoding an engineered or mutant Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein.
AGENT FOR AMELIORATING AND/OR PREVENTING SICKLE CELL DISEASE
PCT/JP2020/035616 / THE UNIVERSITY OF TOKYO
An agent that is for ameliorating and/or preventing sickle cell disease and that contains 5-aminolevulinic acid (ALA) or a derivative thereof, or a salt thereof; and amelioration and/or prevention of sickle cell disease by using said agent.
TARGETING MISSPLICED TRANSCRIPTS IN GENETIC DISORDERS
PCT/EP2020/075871 / UNIQURE IP B.V.
Means and methods for targeting misspliced transcripts which is highly useful for the treatment of expanded repeat disorders.
COMPOSITIONS AND METHODS FOR TREATMENT OF FRIEDREICH’S ATAXIA
PCT/US2020/050551 / LACERTA THERAPEUTICS, INC,
The present application provides compositions for treatment of Friedreich’s Ataxia (FA). These include, but are not limited to, nucleic acid constructs and recombinant vectors comprising a human frataxin 5′ untranslated region (5’UTR FXN) and a human frataxin (FXN) nucleotide sequence are provided herein. Also provided are methods for treatment of FA.
DRUG FOR CURATIVE THERAPY OF INTRACTABLE HEREDITARY RENAL ALPORT SYNDROME
PCT/JP2020/034538 / NATIONAL UNIVERSITY CORPORATION KUMAMOTO UNIVERSITY
Through screening using a high-throughput evaluation system related to the promotion of the formation and extracellular secretion of trimers of COL4A3/A4/A5, which are causative proteins that have decreased expression levels in the renal tissue of Alport syndrome (AS) patients, it was discovered that ciclosporin A has a facilitating action on the formation and extracellular secretion of type IV collagen trimers. With further research, it was discovered that Alisporivir and NIM258, which do not inhibit calcineurin, also have a facilitating action on the extracellular secretion of type IV collagen. The inventors discovered that these actions are based on a cyclophilin D inhibition mechanism, and arrived at the discovery of a fundamental therapeutic agent for AS via cyclophilin D inhibition. The present invention provides: a composition for promoting collagen trimer secretion in cells having a mutated type IV collagen gene, said composition containing a cyclophilin D inhibitor as an active ingredient; an AS treatment/prevention agent; and the like.
COMPOUNDS FOR TREATING ATAXIA
PCT/EP2020/075582 / AMABIOTICS
A compound of the following formula (I): or a pharmaceutically acceptable salt or hydrate thereof, for use in the prevention or treatment of ataxia, in particular Friedreich ataxia, in an individual.
PCT/EP2020/074888 / F. HOFFMANN-LA ROCHE AG
The present invention provides variants of human β-Glucocerebrosidase protein.
METHODS AND COMPOSITIONS FOR THE TREATMENT OF ALS
PCT/US2020/049123 / UNIVERSITY OF CINCINNATI
Compositions including modified adeno-associated virus (AAV) vectors comprising a recombinant AAV (rAAV)-based genome, wherein the rAAV-based genome includes one or more of: a brain derived neurotrophic factor (BDNF)-encoding cDNA insert; or a neurotrophin-3 (NT-3)-encoding cDNA insert. Also provided are methods of treating motor neuron degenerative disorders, such as amyotrophic lateral sclerosis (ALS), by administering the disclosed compositions.
THERAPEUTIC AGENT FOR POLYCYTHEMIA
PCT/JP2020/033561 / PERSEUS PROTEOMICS INC.
Addresses the problem of providing a therapeutic agent for polycythemia. According to the present invention, provided is a therapeutic agent for polycythemia, the inhibitor comprising antibodies that recognize the 629th to 633rd amino acids in human transferrin receptor.
METHODS FOR TREATING CLN2 DISEASE IN PEDIATRIC SUBJECTS
PCT/US2020/048704 / BIOMARIN PHARMACEUTICAL INC.
Methods of treating Neuronal Ceroid Lipofuscinosis (CLN2) disease in a subject less than 3 years old. In exemplary embodiments, the method comprises administering to the subject a formulation comprising recombinant human tripeptidyl peptidase-1 (rhTPPl) in an amount effective to treat the CLN2 disease in the subject.
CO-POTENTIATORS FOR THERAPY OF CYSTIC FIBROSIS CAUSED BY MINIMAL FUNCTION CFTR MUTANTS
PCT/US2020/048645 / THE REGENTS OF THE UNIVERSITY OF CALIFORNIA
Combination-potentiator (“co-potentiator”) therapeutic regimens, which can be used to modulate cystic fibrosis transmembrane conductance regulator (CTFR) mutant proteins. Co-potentiators have potential utility for treatment of many loss-of-function mutations of the CFTR chloride channel (e.g., N1303K).
NEUROFILAMENT LIGHT CHAIN (NFL) AS A BIOMARKER FOR TRANSTHYRETIN AMYLOIDOSIS POLYNEUROPATHY
PCT/US2020/048509 / ALNYLAM PHARMACEUTICALS, INC.
Biomarkers for diagnosis and monitoring of transthyretin (TTR) amyloidosis. The disclosure further provides methods for selection of agents for treatment of TTR amyloidosis using the biomarkers. The disclosure further provides kits for practicing the methods provided herein.
A METHOD OF PROMOTING SURVIVAL AND/OR FUNCTION OF A MOTOR NEURON AND RELATED AGENTS, USES AND METHODS
PCT/SG2020/050504 / AGENCY FOR SCIENCE, TECHNOLOGY AND RESEARCH
A method of promoting survival and/or function of an amyotrophic lateral sclerosis (ALS) or ALS-like motor, the method comprising contacting the motor neuron with an agent capable of reducing mitochondrial protein acetylation, particularly an agent selected from a deacetylase activator, such as nicotinamide (NAM) and 7-hydroxy-3- (4′-methoxyphenyl) coumarin (C12), or an acetyltransferase inhibitor, such as GCN5L1 siRNA of SEQ ID NO: 1. Also provided are related agents, oligonucleotides, uses and methods of identifying agents.