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.
This a free H. M. Pharma Consultancy service; please cite it if you use it as a starting point for your own research. Nothing in this post should be constructed as representing promotion or endorsement of any compound, treatment, or company mentioned herein. While we apply diligence in our monthly patent screening there is no guarantee for completeness.
WO/2021/127655
OPTIMIZED GENE THERAPY FOR TARGETING MUSCLE IN MUSCLE DISEASES
24.06.2021
PCT/US2020/066477 / RESEARCH INSTITUTE AT NATIONWIDE CHILDREN’S HOSPITAL
Gene therapy vectors, such as recombinant adeno-associated virus (rAAV), designed for treatment of GNE myopathy in which the rAAV expresses UDP-GlcNAc-epimerase/ManNAc-6 alone or in combination with a muscle growth factor or muscle transdifferentation factor. The provided AAV replace the mutated GNE gene expression while expressing proteins that stimulate muscle growth.
WO/2021/127533
COMPOSITIONS FOR TREATING FRIEDREICH’S ATAXIA
24.06.2021
PCT/US2020/066167 / THE TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA
A recombinant adeno-associated virus (rAAV) comprising an AAV capsid and a vector genome comprising a frataxin gene is provided. Also provided is a composition containing an effective amount of rAAV to ameliorate symptoms of Freidreich’s ataxia, including, e.g., reduction in progression towards neurocognitive decline and/or cardiomyopathy.
WO/2021/127496
COMBINATION TREATMENTS FOR WALDENSTROM’S MACROGLOBULINEMIA
24.06.2021
PCT/US2020/066099 / X4 PHARMACEUTICALS, INC.
A method of treating Waldenstrom’s macroglobulinemia, comprising administering to a patient in need thereof an effective amount of a CXCR4 inhibitor such as X4P-001, or a pharmaceutically acceptable salt thereof, and co-administering simultaneously or sequentially an effective amount of one or more additional therapeutic agents, such as those described herein.
WO/2021/127308
GABOXADOL FOR THERAPEUTIC TREATMENT OF 1P36 DELETION SYNDROME
24.06.2021
PCT/US2020/065801 / OVID THERAPEUTICS INC.
Methods and pharmaceutical compositions containing gaboxadol or a pharmaceutically acceptable salt thereof for treating 1p36 deletion syndrome are provided.
WO/2021/127265
COMPOUNDS AND PROBES FOR IMAGING HUNTINGTIN PROTEIN
24.06.2021
PCT/US2020/065737 / CHDI FOUNDATION, INC.
Provided herein are certain compounds of formula (I) and imaging agents useful for detecting a condition or disorder associated with protein aggregation, compositions thereof, and methods of their use.
WO/2021/127057
METHODS AND COMPOSITIONS FOR CORRECTION OF DMD MUTATIONS
24.06.2021
PCT/US2020/065437 / PRESIDENT AND FELLOWS OF HARVARD COLLEGE
Methods and compositions for treating muscular dystrophies, including DMD, by deleting and optionally replacing disease associated mutations in the genome of muscular dystrophy patients. With the aim of delivering an in vivo therapeutic that could effectively correct a large fraction of existing human DMD mutations (including those contained within the DMD “hotspot” from exon 45-55), disclosed herein is a dual-gRNA CRISPR/Cas9-based system that enables homology-independent integration at the DMD locus of a synthetic intron-free DNA sequence encoding exons 45-55.
WO/2021/127008
COMPOSITIONS AND METHODS FOR TREATING NEUROMUSCULAR DISORDERS
24.06.2021
PCT/US2020/065355 / THE REGENTS OF THE UNIVERSITY OF CALIFORNIA
Compositions and methods that reduce the level of pro-inflammatory cytokines, chemokines, and growth factors for inhibiting motor neuron degeneration and treating neurodegenerative disorders.
WO/2021/126320
TREATMENT OF AMYOTROPHIC LATERAL SCLEROSIS
24.06.2021
PCT/US2020/048581 / AMYLYX PHARMACEUTICALS INC. Inventor COHEN, Joshua
Provided herein are methods and compositions for treating at least one symptom of ALS, slowing ALS disease progression, or reducing the deterioration of one or more bodily functions affected by ALS in a subject. The methods can include administering to the subject a bile acid or a pharmaceutically acceptable salt thereof and a phenylbutyrate compound.
WO/2021/126087
METHOD FOR TREATING ANGELMAN SYNDROME AND RELATED DISORDERS
24.06.2021
PCT/SG2020/050762 / NATIONAL UNIVERSITY OF SINGAPORE
Methods of treating or ameliorating seizures relating to disruptions in Ubiquitin Protein Ligase E3A (UBE3A) gene. More particularly, the invention relates to the use of BK channel antagonists for the prophylaxis or treatment of seizures in a subject with Angelman syndrome or related autism spectrum disorder (ASD). In some embodiments, BK channel antagonist is Paxilline, iberiotoxin (IBTX) or GAL-021.
WO/2021/125847
METHOD FOR SCREENING FOR MATERIAL FOR REGULATING PEXOPHAGY BY USING N-TERMINAL ARGINYLATION OF N-DEGRON PATHWAY
24.06.2021
PCT/KR2020/018581 / PROTECH CO., LTD.
A novel pathway for inhibiting pexophagy and the application of the discovery to peroxisome biogenesis disorders. More specifically, the present invention provides: a method for screening for a drug that is effective against PBD or PBD-associated diseases by confirming the inhibition of ATE1, ACAD10 and the interaction therebetween; a method for providing information for diagnosing PBD or PBD-associated diseases by detecting an ACAD10 protein that comprises an N-terminal RCOX residue, and a diagnostic composition; and a composition for inhibiting pexophagy or preventing, alleviating or treating PBD or PBD-associated diseases, comprising tannic acid.
WO/2021/124172
3-(5-METHOXY-1-OXOISOINDOLIN-2-YL)PIPERIDINE-2,6-DIONE DERIVATIVES AND USES THEREOF
24.06.2021
PCT/IB2020/062070 / NOVARTIS AG
Compounds of formula (I’) and pharmaceutical compositions and their use in reducing Widely Interspaced Zinc Finger Motifs (WIZ) expression levels, or inducing fetal hemoglobin (HbF) expression, and in the treatment of inherited blood disorders (e.g., hemoglobinopathies, e.g., beta-hemoglobinopathies), such as sickle cell disease and beta-thalassemia.
WO/2021/123451
TRANSGENIC ANIMAL MODEL FOR PROTEINURIA AND LYSOSOMAL STORAGE DISEASES
24.06.2021
PCT/EP2020/087534 / UNIVERSITÄT ZÜRICH
A method for determining the nephrotoxicity or nephron-protective effects of a compound. The compound is administered to a non-primate, particularly non-human transgenic organism expressing a fusion protein having a molecular weight equal to or below 69 kDa. Furthermore, the fusion protein comprises a fluorophore that is stable under physiologically buffered acidic conditions and the fusion protein is secreted to the blood stream to allow the assessment of renal function. The fluorophore is detected in the liver, kidney and/or urine of said transgenic organism and a signal intensity related to the amount of said fluorophore is recorded. By comparing said signal intensity with a reference signal intensity, the nephrotoxicity or nephron-protective effect of said compound is assessed.
WO/2021/122944
COMPOSITIONS AND METHODS FOR TREATING RETINITIS PIGMENTOSA
24.06.2021
PCT/EP2020/086702
ALIA THERAPEUTICS SRL
Compositions and methods useful for altering a P347 mutation in a RHO gene.
WO/2021/119475
CYSTINE DIAMIDE ANALOGS FOR CYSTINURIA
17.06.2021
PCT/US2020/064583 / RUTGERS, THE STATE UNIVERSITY OF NEW JERSEY
Novel cystine analogs, methods of making cystine analogs, compositions containing cystine analogs and methods of using such analogs for inhibiting cystine stone formation and treatment of cystinuria.
WO/2021/119226
HUMAN CHROMOSOME 9 OPEN READING FRAME 72 (C9ORF72) IRNA AGENT
17.06.2021
PCT/US2020/064159 / ALNYLAM PHARMACEUTICALS, INC.
Double stranded ribonucleic acid (dsRNAi) agents and compositions targeting a human chromosome 9 open reading frame 72 (C9orf72) gene, as well as methods of inhibiting expression of a C9orf72 gene and methods of treating subjects having a C9orf72-associated disease or disorder, e.g., C9orf72 amyotrophic lateral sclerosis/frontotemporal dementia or Huntington-Like Syndrome Due To C9orf72 Expansions, using such dsRNAi agents and compositions.
WO/2021/119053
ADENO ASSOCIATED VIRUS VECTORS FOR THE TREATMENT OF HUNTER DISEASE
17.06.2021
PCT/US2020/063887 / SHIRE HUMAN GENETIC THERAPIES, INC.
A recombinant adeno-associated virus (rAAV) vector comprising an AAV8 or AAV9 capsid and a codon-optimized sequence encoding a human iduronate-2-sulfatase (I2S) enzyme. The disclosure also provides a method of treating a subject having Hunter syndrome (MPS II), comprising administering to the subject in need thereof a recombinant adeno-associated virus (rAAV) vector comprising an AAV8 or AAV9 capsid, and a promoter operably linked to a nucleic acid sequence that encodes iduronate-2-sulfatase (I2S), and wherein administering results in an increase in I2S enzymatic activity in the subject.
WO/2021/119040
MODIFIED CELLS AND METHODS FOR THE TREATMENT OF HEMOGLOBINOPATHIES
17.06.2021
PCT/US2020/063854 / EDITAS MEDICINE, INC.
Genome editing systems, guide RNAs, and CRISPR-mediated methods are provided for altering portions of the HBG1 and HBG2 loci in cells and increasing expression of fetal hemoglobin.
WO/2021/118929
COMPOUNDS FOR TREATING FAMILIAL DYSAUTONOMIA
17.06.2021
PCT/US2020/063612 / PTC THERAPEUTICS, INC.
Compounds useful for improving pre-mRNA splicing in a cell. In particular, another aspect of the present description relates to substituted thieno [3,2-d]pyrimidine compounds, forms, and pharmaceutical compositions thereof and methods of use for treating or ameliorating familial dysautonomia.
WO/2021/117122
PROPHYLACTIC OR THERAPEUTIC AGENT FOR LYSOSOMAL ACID LIPASE DEFICIENCY SYNDROME
17.06.2021
PCT/JP2019/048232 / REBORNA BIOSCIENCES, INC.
A novel prophylactic or therapeutic agent for lysosomal acid lipase deficiency syndrome. This prophylactic or therapeutic agent includes, as an active ingredient, 13-40 oligomers each: comprising a sequence having 80% or higher homology with the antisense strand of the 8th intron of human lysosomal acid type lipase gene; and including a sequence in which there are at least 13 bases identical to 5’-CCCAAAXGCACXCCXGGA-3’ (X is T or U).
WO/2021/116709
COMPOUNDS AND THEIR USE FOR THE TREATMENT OF Α1-ANTITRYPSIN DEFICIENCY
17.06.2021
PCT/GB2020/053194 / Z FACTOR LIMITED
Benzamide compounds of formula (1), and pharmaceutical compositions containing the compounds. The compounds may be inducers of α1-antitrypsin (A1AT), and may be used in the treatment of a disease or disorder such as α1-antitrypsin deficiency (A1AD or AATD).
WO/2021/116707
4-((2-OXOPYRIDIN-1 (2H)-YL)METHYL)BENZAMIDES FOR TREATING ALPHA1 -ANTITRYPSIN DEFICIENCY
17.06.2021
PCT/GB2020/053192 / Z FACTOR LIMITED
Benzamide compounds of formula (1) and pharmaceutical compositions containing the compounds. The compounds may be inducers of alpha1-antitrypsin (A1AT), and may be used in the treatment of a disease or disorder such as alpha1-antitrypsin deficiency (A1AD or AATD).
WO/2021/116706
COMPOUNDS AND THEIR USE FOR THE TREATMENT OF Α1-ANTITRYPSIN DEFICIENCY
17.06.2021
PCT/GB2020/053191 / Z FACTOR LIMITED
Benzamide compounds of formula (1), and pharmaceutical compositions containing the compounds. The compounds may be inducers of α1-antitrypsin (A1AT), and may be used in the treatment of a disease or disorder such as α1-antitrypsin deficiency (A1AD or AATD).
WO/2021/116703
COMPOUNDS AND THEIR USE FOR THE TREATMENT OF Α1-ANTITRYPSIN DEFICIENCY
17.06.2021
PCT/GB2020/053187 / Z FACTOR LIMITED
Carboxylic acid compounds of formula (1), and pharmaceutical compositions containing the compounds. The compounds may be inducers of α1-antitrypsin (A1AT), and may be used in the treatment of a disease or disorder such as α1-antitrypsin deficiency (A1AD or AATD).
WO/2021/116487
COMPOUNDS FOR USE IN THE TREATMENT OF NIEMANN-PICK C DISEASE
17.06.2021
PCT/EP2020/085934 / SOM INNOVATION BIOTECH, S.A.
A compound selected from the group consisting of amrinone, nicainiprol and piboserod or a pharmaceutically acceptable salt thereof, for use in the treatment and/or prevention of Niemann-Pick C disease, as well as to a combination comprising at least one of said compounds for use in the treatment and/or prevention of Niemann-Pick C disease. It also relates to the use of any one of the above-mentioned compounds for the manufacture of a medicament for the treatment and/or prevention of Niemann-Pick C disease and to methods of treatment and/or prevention of Niemann-Pick C disease by administering to a patient in need thereof of one or more of the above-mentioned compounds.
WO/2021/116372
INHIBITORS OF KDM5A FOR USE IN TREATMENT OF IDIOPATHIC INFLAMMATORY MYOPATHIES
17.06.2021
PCT/EP2020/085699 / UNIVERSITEIT ANTWERPEN
KDM5A inhibitors for use in prevention or treatment of idiopathic inflammatory myopathies such as polymyositis, dermatomyositis, necrotizing autoimmune myopathy, and in particular sporadic inclusion body myositis, and diagnosis of these diseases based on KDM5A expression levels in muscle tissue. The invention further concerns pharmaceutical compositions comprising KDM5A inhibitors for use in prevention or treatment of idiopathic inflammatory myopathies such as polymyositis, dermatomyositis, necrotizing autoimmune myopathy, and in particular sporadic inclusion body myositis.
WO/2021/115317
COMPOSITIONS AND METHODS FOR TREATING LEBER’S HEREDITARY OPTIC NEUROPATHY WITH NADH DEHYDROGENASE PROTEINS
17.06.2021
PCT/CN2020/134859 / WUHAN NEUROPHTH BIOTECHNOLOGY LTD. CO.
A recombinant nucleic acid, comprising: a mitochondrial targeting sequence; a mitochondrial protein coding sequence, wherein said mitochondrial protein coding sequence encodes a polypeptide comprising a mitochondrial protein; and a 3’UTR nucleic acid sequence. Also provided is a pharmaceutical composition comprising the recombinant nucleic acid and a method of treating Leber’s hereditary optic neuropathy (LHON) using the pharmaceutical composition.
WO/2021/115141
SIRNA FOR INHIBITING HTT GENE EXPRESSION, AND PRECURSOR AND APPLICATION THEREOF
17.06.2021
PCT/CN2020/132256 / NANJING YOUZHIYUAN PHARMACEUTICAL TECHNOLOGY CO., LTD.
An siRNA for inhibiting HTT gene expression and a precursor sequence thereof, an expression vector comprising the siRNA or the precursor sequence thereof, an application thereof in preparation of a drug for treating Huntington’s disease, and a pharmaceutical preparation and pharmaceutical composition containing the siRNA, the precursor sequence or the expression vector.
WO/2021/115100
NOVEL USE OF SULFORAPHANE AND PHARMACEUTICAL COMPOSITION COMPRISING SAME
17.06.2021
PCT/CN2020/130447 / ZHEJIANG UNIVERSITY OF TECHNOLOGY
Provided are new use of sulforaphane for preparing a TFEB activator and for preparing drugs in the treatment and/or prevention of lysosomal storage diseases, and a pharmaceutical composition comprising same. It is confirmed that sulforaphane can promote the biosynthesis of lysosome and increase the activity of the lysosome by activating TFEB, so as to degrade storages in the lysosome. As sulforaphane has the described functions, it can be used for preparing drugs for treating and/or preventing lysosomal storage diseases.
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WO/2021/113834
GANAXOLONE FOR USE IN TREATING TUBEROUS SCLEROSIS COMPLEX
10.06.2021
PCT/US2020/063648 / MARINUS PHARMACEUTICALS, INC.
Methods for treating tuberous sclerosis complex or tuberous sclerosis complex-related epilepsy, comprising administering to a subject in need thereof a therapeutically effective amount of a pharmaceutically acceptable pregnenolone neurosteroid, such as ganaxolone, to reduce one or more symptoms of tuberous sclerosis complex or tuberous sclerosis complex-related epilepsy.
WO/2021/113808
CFTR-MODULATING ARYLAMIDES
10.06.2021
PCT/US2020/063589 / GENZYME CORPORATION
Heterocyclic compounds, pharmaceutically acceptable salts thereof, and pharmaceutical preparations thereof. Also described herein are compositions and the use of such compounds in methods of treating diseases and conditions mediated by deficient CFTR activity, in particular cystic fibrosis.
WO/2021/113795
COMPOUNDS AND METHODS FOR THE TREATMENT OF CYSTIC FIBROSIS
10.06.2021
PCT/US2020/063535 / FLATLEY DISCOVERY LAB, LLC
A compound of Formula I, pharmaceutical compositions comprising a compound of Formula I, and methods of treating cystic fibrosis comprising the step of administering a therapeutically effective amount of a compound of Formula I to a subject in need thereof.
WO/2021/113763
COMPOSITIONS AND METHODS FOR THE TARGETING OF RHODOPSIN
10.06.2021
PCT/US2020/063477 / SCRIBE THERAPEUTICS INC.
Class 2 Type V CRISPR:gNA systems comprising Class 2 Type V CRISPR polypeptides (e.g. CasX), guide nucleic acids (gNA), and optionally donor template nucleic acids useful in the modification of a RHO gene. The systems are also useful for introduction into cells, for example eukaryotic cells having mutations in the rhodopsin protein. Also provided are methods of using such systems to modify cells having such mutations and utility in methods of treatment of a subject with a RHO-related disease, such as retinitis pigmentosa.
WO/2021/113762
COMPOSITIONS AND METHODS EXCLUDING OR WITH REDUCED GLUTAMINE FOR THE TREATMENT OF HEMOGLOBINOPATHIES AND THALASSEMIAS
10.06.2021
PCT/US2020/063476 / AXCELLA HEALTH INC.
Compositions and methods for improving erythrocyte dysfunction or treating a hemoglobinopathy or a thalassemia (e.g., sickle cell disease or β- thalassemia).
WO/2021/112106
XERODERMA PIGMENTOSUM GROUP F THERAPEUTIC AGENT
10.06.2021
PCT/JP2020/044768 / DAIICHI SANKYO COMPANY, LTD
To provide a means for treating xeroderma pigmentosum group F, for which no disease-causing mutation has been identified to date. The present invention provides: an antisense oligonucleotide having a base sequence capable of hybridizing with a portion of the intron region of an XPF gene and having activity to inhibit abnormal posttranscriptional modification of the XPF gene, or a pharmaceutically acceptable salt of said antisense oligonucleotide; and a therapeutic agent or a therapeutic composition for xeroderma pigmentosum group F containing said antisense oligonucleotide or pharmaceutically acceptable salt thereof as an active ingredient.
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WO/2021/108755
MICRODYSTROPHIN GENE THERAPY CONSTRUCTS AND USES THEREOF
03.06.2021
PCT/US2020/062484 / REGENXBIO INC.
Novel gene constructs that encode a microdystrophin protein for use in gene therapy. The microdystrophin gene constructs and expression cassettes were engineered for improved therapy with respect to efficacy, potency and safety to the subject when expressed by a viral vector in muscle cells and/or CNS cells.
WO/2021/108640
COMPOUNDS AND METHODS FOR THE TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY
03.06.2021
PCT/US2020/062333 / DTX PHARMA, INC.
Compounds including a single-stranded oligonucleotide (A) having a nucleobase sequence complementary to a portion of the dystrophin pre-mRNA, their preparation, and uses thereof for the treatment of Duchenne muscular dystrophy.
WO/2021/108195
BDELLOVIBRIO TREATMENT FOR AMYOTROPHIC LATERAL SCLEROSIS
03.06.2021
PCT/US2020/061158 / BOARD OF REGENTS, THE UNIVERSITY OF TEXAS SYSTEM
Compositions and methods for treating or preventing the progression of neurodegenerative diseases are provided herein. Exemplary compositions include bacterial compositions having an effective amount of viable, non-pathogenic microbes, viable, non-pathogenic bacteria, wherein at least one of the bacteria is a predatory bacteria such as Bdellovibrio bacteriovorus. The disclosed bacterial compositions can be used to treat or prevent the progression of neurodegenerative diseases such as ALS, Alzheimer’s disease, Huntington’s disease, and Parkinson’s disease.
WO/2021/107686
EDARAVONE PRODRUG COMPOUND AND PHARMACEUTICAL USE THEREOF FOR TREATING OR ALLEVIATING NEURODEGENERATIVE OR MOTOR NEURON DISEASES
03.06.2021
PCT/KR2020/017088 / J2H BIOTECH INC
A novel prodrug of an edaravone compound, or a pharmaceutically acceptable salt thereof, a pharmaceutical composition comprising same as an active ingredient, and a pharmaceutical use thereof for treating or alleviating neurodegenerative and/or motor neuron diseases.
WO/2021/105641
N2-ARYLMETHYL-4-HALOALKYL-PYRIDAZIN-3-ONE CFTR MODULATORS FOR THE TREATMENT OF CYSTIC FIBROSIS
03.06.2021
PCT/FR2020/052228 / UNIVERSITE DE REIMS CHAMPAGNE-ARDENNE
Compounds of formula I (I) or pharmaceutically acceptable solvates thereof, as well as their use in the treatment and/or prevention of diseases or conditions associated with a dysfunction of CFTR channel activity, particularly cystic fibrosis.
WO/2021/105137
TREM-1 INHIBITORS FOR THE TREATMENT OF VASO-OCCLUSIONS AND TISSUE INJURIES IN PATIENTS SUFFERING FROM SICKLE CELL DISEASE
03.06.2021
PCT/EP2020/083241 / INSERM
The inventors tested the effect of pharmacological inhibition of TREM-1 with LR12 peptide in two experimental vaso-occlusive crisis models. Additional validation of TREM-1 involvement in vaso-occlusion was verified using mice with sickle cell disease and Trem-1 gene deficiency. In particular, the inventors showed that TREM-1 inhibition is particular suitable for limiting the severity of vaso-occlusions. The results obtained by the inventors also suggest that plasmatic concentration of sTREM-1 could be a reliable biomarker for predicting vaso-occlusions and/or SCD-associated organ dysfunction and end-organ damage.