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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TREATMENT OF MUCOPOLYSACCHARIDOSIS I WITH FULLY-HUMAN GLYCOSYLATED HUMAN ALPHA-L-IDURONIDASE (IDUA)
PCT/US2021/014129 / REGENXBIO INC.
Compositions and methods are described for the delivery of a fully human-glycosylated (HuGly) α-L-iduronidase (IDUA) to the cerebrospinal fluid of the central nervous system (CNS) of a human subject diagnosed with mucopolysaccharidosis I (MPS I).
METHODS OF TREATING FRAGILE X SYNDROME WITH REELIN
PCT/US2021/013960 / UNIVERSITY OF SOUTH FLORIDA
Disclosed herein is a rAAV9 Reelin viral vector expressing a REELIN repeat R3 + R6 fusion protein that is shown to rescue cognitive deficits in FMR1-/- mice as evaluated in the Hidden Platform Water Maze, Open Field and Fear Conditioning. Reelin gene therapy is therefore potentially a novel therapeutic for the treatment of Fragile X Syndrome.
GENE THERAPY FOR TREATMENT OF CRX-AUTOSOMAL DOMINANT RETINOPATHIES
PCT/US2021/013733 / THE USA, AS REPRESENTED BY THE SECRETARY, DEPARTMENT OF HEALTH AND HUMAN SERVICES
Methods are disclosed for treating a cone rod homeobox transcription factor (CRX) autosomal dominant retinopathy in a subject. These methods include administering to the subject an effective amount of a nucleic acid molecule comprising a retinal specific promoter operably linked to a nucleic acid molecule encoding a CRX protein. Compositions are disclosed that include an effective amount of a nucleic acid molecule comprising a retinal specific promoter operably linked to a nucleic acid molecule encoding CRX, for use in treating a CRX autosomal dominant retinopathy in a subject. A retinal specific promoter is disclosed.
TREATMENT OF LATE-ONSET NEURODEGENERATIVE DISEASES IN HETEROZYGOUS NPC1 GENE MUTATION CARRIERS
PCT/IB2021/050236 / INTRABIO LTD
Methods of treating, preventing, or delaying the onset of a late-onset neurodegenerative disease, e.g., Niemann–Pick type C, or a symptom thereof in a subject in need thereof, comprising administering a therapeutically effective amount of acetyl-leucine to the subject, wherein the subject is heterozygous NPC1 gene mutation carrier.
ADENO ASSOCIATED VIRUS BASED GENE THERAPY FOR PHENYLKETONURIA
PCT/IB2021/000008 / TAKEDA PHARMACEUTICAL CO. LTD
A recombinant adeno-associated virus (rAAV) vector comprising an AAV8 capsid and a codon-optimized sequence encoding a human phenylalanine hydroxylase (PAH) enzyme. The disclosure also provides a method of treating a subject having phenylketonuria (PKU), comprising administering to the subject in need thereof a recombinant adeno-associated virus (rAAV) vector comprising an AAV8 capsid, and a promoter operably linked to a nucleic acid sequence that encodes PAH, and wherein administering results in a decrease in phenylalanine level in the subject.
COMBINATION THERAPY FOR TREATING MUSCULAR DYSTROPHY
PCT/US2021/012942 / SOLID BIOSCIENCES INC.
Gene therapy vectors, such as adeno-associated virus (AAV) vectors, that co-express a functional protein (such as a miniaturized human micro-dystrophin gene product) and one or more additional coding sequences for an RNAi sequence (siRNA, shRNA, miRNA), an antisense sequence, a guide sequence for a gene editing enzyme (such as an sgRNA for CRISPR/Cas9, or a crRNA for CRISPR/Casl2a), and/or a microRNA, from a divergent vector, and methods of using such vectors to treat subjects suffering from a muscular dystrophy such as DMD / BMD.
METHODS OF TREATING ERYTHROPOIETIC PROTOPORPHYRIA, X-LINKED PROTOPORPHYRIA, OR CONGENITAL ERYTHROPOIETIC PORPHYRIA WITH GLYCINE TRANSPORT INHIBITORS
PCT/US2021/012786 / DISC MEDICINE, INC.
Methods of using glycine transporter inhibitors, such as GlyT1 inhibitors, or pharmaceutically acceptable salts, solvates or prodrugs thereof, or pharmaceutical compositions thereof, for preventing or treating erythropoietic protoporphyria (EPP), X-linked protoporphyria (XLPP), and/or congenital erythropoietic porphyria (CEP), and related syndromes thereof.
METHODS AND COMPOUNDS FOR THE TREATMENT OF FRAGILE X
PCT/US2021/012767 / DESIGN THERAPEUTICS, INC.
Compounds and methods which may be useful for modulating the expression of a target gene comprising a CGG trinucleotide repeat sequence and treating diseases and conditions in which the target gene plays an active role. The present disclosure provides compounds and methods for modulating the expression of fmr1 and fmr2, and provides compounds and methods for treating fragile X syndrome and fragile XE syndrome.
MUSCLE TARGETING COMPLEXES AND USES THEREOF FOR TREATING MYOTONIC DYSTROPHY
PCT/US2021/012667 / DYNE THERAPEUTICS, INC.
Complexes comprising a muscle-targeting agent covalently linked to a molecular payload. In some embodiments, the muscle-targeting agent specifically binds to an internalizing cell surface receptor on muscle cells. In some embodiments, the molecular payload inhibits expression or activity of a DMPK allele comprising a disease-associated-repeat. In some embodiments, the molecular payload is an oligonucleotide, such as an antisense oligonucleotide or RNAi oligonucleotide.
TREATMENT OF FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
PCT/US2021/012598 / REGENERON PHARMACEUTICALS, INC.
Methods for treating fibrodysplasia ossificans progressiva (FOP) in human subjects are provided. Such methods involve administering to a subject having FOP a therapeutically effective amount of an Activin A antagonist, such as an antibody against Activin A.
TREATMENT OF PAROXYSMAL NOCTURNAL HEMOGLOBINURIA
PCT/US2021/012561 / APELLIS PHARMACEUTICALS, INC.
The disclosure features a method of treating a subject suffering from paroxysmal nocturnal hemoglobinuria (PNH), comprising subcutaneously administering to the subject pegcetacoplan.
COMPOSITIONS AND METHODS FOR TREATMENT OF AMYOTROPHIC LATERAL SCLEROSIS (ALS) AND OTHER NEURODEGENERATIVE DISEASES
PCT/US2020/047359 / THE SALLIE ASTOR BURDINE BREAST FOUNDATION
Methods for the treatment of neurodegenerative diseases (ND) and other mitochondrial disorders, and compositions related thereto. Described herein are in vitro (cell culture) and in vivo (animal model) experimental examples demonstrating mitochondrial organelle transplantation (MOT) for the treatment of NDs such as amyotrophic lateral sclerosis (ALS). Furthermore, as discussed herein, MOT has been performed in five human ALS patients with positive results – measurable improvement of their conditions has been observed, with no adverse events.
COMPOSITION FOR TREATING FRAGILE X SYNDROME OR RELATED DEVELOPMENTAL DISORDERS, COMPRISING LISURIDE COMPOUND AS ACTIVE INGREDIENT
PCT/KR2021/000227 / KONKUK UNIVERSITY GLOCAL INDUSTRYACADEMIC COLLABORATION FOUNDATION
The present invention relates to a composition for preventing, alleviating, or treating fragile X syndrome or fragile X syndrome-related developmental disorders, comprising lisuride, a lisuride metabolite, or respective pharmaceutically acceptable salts thereof.
SOLUBLE MELATONIN TRIPARTATE ADDUCT FOR THE PREVENTION AND TREATMENT OF RARE AND SEVERE EYE SIGHT-THREATENING CONDITIONS AND NEURO-OPHTHALMIC DISORDERS
PCT/EP2020/025589 / WORPHMED SRL
A soluble melatonin tripartate adduct comprising three structurally distinct regions and optionally trehalose, its stable sterile lyophilized powder and preservative- free aqueous solution or ointment, and to related pharmaceutical forms thereof, wherein the active melatonin moiety is adducted to a nucleoside in an optimal ratio range, with or without the presence of C2-C5 short chain amino acid. The invention further relates to the pharmaceutical field, more precisely it refers to the ophthalmic use of said melatonin tripartate adduct and to the method to prevent or treat serious ophthalmic pathologies in mammals and humans, more precisely rare and severe eye sight-threatening conditions and neuro-ophthalmic disorders in human and veterinary medicine, wherein said acute and chronic pathophysiological alterations and oculopathies are mainly caused by oxidative stress and related hypoxia-inducible factors (HIFs) and inflammation affecting the eyes. The pharmaceutical composition of said melatonin tripartate adduct may optionally contain either retinol or sodium hyaluronidate, or hyaluronic acid, L-carnosine, L-acetylcarnosine or a mixture thereof. Viscosity enhancers may be optionally included in the composition. Furthermore, the pharmaceutical composition of the invention is chemically and physically stable and safe.
CANNABIDIOLIC ACID ESTERS FOR TREATING MUSCULAR DYSTROPHY
PCT/IL2020/051350 / EPM GROUP, INC.
Compositions and methods for treating muscular dystrophy. In particular, the present invention provides pharmaceutical compositions and formulations comprising a cannabidiolic acid (CBDA) ester alone or in combination with one or more additional cannabinoid compound(s), and a pharmaceutically acceptable carrier, excipient or diluent, for use in treating muscular dystrophy.
ISOQUINOLINE DERIVATIVES FOR USE IN TREATING GLUT1 DEFICIENCY SYNDROME
PCT/EP2020/087950 / GLIAPHARM SA
New agents useful for the prevention and/or treatment of GLUT1-DS and related methods using the same.
METHOD FOR TREATING USHER SYNDROME AND COMPOSITION THEREOF
PCT/CN2020/141501 / EDIGENE INC.
A LEAPER technology-based method for editing target RNA containing a G to A mutation in a USH2A gene transcript, comprising: introducing adenosine deaminase-recruiting RNA (arRNA) used to edit target RNA or a construct that encodes the arRNA into a cell; the arRNA comprises a complementary RNA sequence that hybridizes with the target RNA; and the arRNA can recruit adenosine deaminase (ADAR) that acts on the RNA, such that target adenosine in the target RNA is deaminated, safely and effectively carrying out in vivo editing of bases from A to I on RNA, repairing a pathogenic mutation site, and achieving the objective of treating diseases such as Usher syndrome.
METHODS OF TREATING CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) DYSFUNCTION
PCT/US2020/066570 / NATIONAL JEWISH HEALTH
Methods of treating cystic fibrosis transmembrane conductance regulator (CFTR)-mediated disease, such as cystic fibrosis, in patients with residual function mutations.
COMPOUNDS FOR THE TREATMENT OF MYELOFIBROSIS
PCT/US2020/066762 / ACTUATE THERAPEUTICS, INC.
Methods of treating myelofibrosis in a patient by administering to the patient a therapeutically effective amount of a GSΚ-3β inhibitor such as 3-(5-fluorobenzofuran-3-yl)-4-(5-methyl-5H-[l,3]dioxolo[4,5-f]indol-7-yl)pynOle-2,5-dione, or a pharmaceutically acceptable salt thereof, optionally in combination with a therapeutically effective amount of a JAK inhibitor such as ruxolitinib, or a pharmaceutically acceptable salt thereof.
PHARMACEUTICAL COMPOSITION FOR TREATING LIPID STORAGE DISORDER
PCT/JP2020/049046 / NATIONAL UNIVERSITY CORPORATION KUMAMOTO UNIVERSITY
A pharmaceutical composition for treating lipid storage disorder, the pharmaceutical composition exhibiting a therapeutic effect by improving lipid storage at least in the brain. According to the present invention, there is provided a pharmaceutical composition for treating the storage of lipids in the brain, the pharmaceutical composition containing lactose-modified hydroxypropyl-β-cyclodextrin or lactose-modified hydroxypropyl-γ-cyclodextrin as an active ingredient, wherein the pharmaceutical composition is characterized in that the compound migrates at least into the brain when administered in vivo.
ANTISENSE OLIGONUCLEOTIDES FOR NUCLEOTIDE DEAMINATION IN THE TREATMENT OF STARGARDT DISEASE
PCT/EP2020/087767 / PROQR THERAPEUTICS II B.V
RNA editing oligonucleotides (EONs) that can bring about specific editing of a target nucleotide (adenosine) in a target RNA molecule in a eukaryotic cell, wherein said oligonucleotide is for use in the treatment of Stargardt disease, and more preferably for the deamination of target adenosines present in the ABCA4 pre-mRNA or ABCA4 mRNA.