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 as published.
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WO/2020/264532
METHODS AND COMPOSITIONS FOR TREATING THALASSEMIA OR SICKLE CELL DISEASE
30.12.2020
PCT/US2020/040199 / ASC THERAPEUTICS INC.
Provided herein are methods and compositions for treating genetic blood cell diseases, e.g. sickle cell disease and thalassemia, by correcting genetic mutation or inserting exogenous globin gene using CRISPR/Cas system.
WO/2020/264353
SYNTHETIC GENES FOR THE TREATMENT OF PROPIONIC ACIDEMIA CAUSED BY MUTATIONS IN PROPIONYL-COA CARBOXYLASE ALPHA
30.12.2020
PCT/US2020/039901 UNITED STATES DEPARTMENT OF HEALTH AND HUMAN SERVICES
Synthetic polynucleotides encoding human propionyl-CoA carboxylase alpha (synPCCA) and exhibiting augmented expression in cell culture and/or in a subject are described herein. Adeno-associated viral (AAV) gene therapy vectors encoding synPCCA successfully rescued the neonatal lethal phenotype displayed by propionyl-CoA carboxylase alpha (Pcca-/-) deficient mice, lowered circulating methylcitrate levels in the treated animals, and resulted in prolonged hepatic expression of the product of the synPCCA transgene in vivo.
WO/2020/264333
PEGYLATED CYSTATHIONINE BETA SYNTHASE FOR ENZYME THERAPY FOR TREATMENT OF HOMOCYSTINURIA
30.12.2020
PCT/US2020/039870 / ORPHAN TECHNOLOGIES, LTD.
The present disclosure provides formulations for a drug product comprising a PEGylated CBS protein having the amino acid sequence of SEQ ID NO: 1. Dosages and dosing regimens are provided for treatment of homocystinuria in a subject in need thereof. Additionally, the dosages and dosing regimens are also provided to reduce the level of homocysteine (Hcy) or increase the levels of cysteine (Cys) and/or cystathionine (Cth) in a subject in need thereof.
WO/2020/261178
METHODS OF TREATING DUCHENNE MUSCULAR DYSTROPHY USING AAV MINI-DYSTROPHIN GENE THERAPY
30.12.2020
PCT/IB2020/056029 / PFIZER INC.
The disclosure describes methods of treating humans with Duchenne muscular dystrophy by providing doses of an AAV9 vector that expresses a mini-dystrophin protein in transduced muscle cells.
WO/2020/260670
COMPOUNDS FOR USE IN TREATING DRAVET SYNDROME AND OTHER DISORDERS
30.12.2020
PCT/EP2020/068166 / SMARTOX
The present invention relates to compounds, which are useful for enhancing Nav1.1 activity, and more particularly for use in the treatment or prevention of a disorder susceptible of being improved by activating the Nav1.1 channel, such as Dravet syndrome.
WO/2020/259787
TREATMENT OF CNS DISORDERS WITH SLEEP DISTURBANCES
30.12.2020
PCT/DK2020/050197 / UNIVERSITY OF COPENHAGEN
A compound for use in the treatment of CNS disorders with sleep disturbances e.g. narcolepsy or Angelman syndrome in a subject, wherein said compound is according to formula (I) or any isomer, tautomer, enantiomer, racemic form or deuterated form thereof, or a pharmaceutically acceptable salt thereof.
WO/2020/257489
METHODS FOR TREATING MUSCULAR DYSTROPHY
24.12.2020
PCT/US2020/038483 / SAREPTA THERAPEUTICS, INC.
Methods for treating muscular dystrophy by administering a pharmaceutical composition comprising about 80 to about 300 mg/kg of an antisense oligomer, or pharmaceutically acceptable salt thereof, are described. In one embodiment, the compositions are administered less frequently than occurs in existing methods of treatment
WO/2020/254558
5-[(1S)-1-(4-BROMOPHENOXY)ETHYL]-2H-TETRAZOLE DERIVATIVES AND RELATED COMPOUNDS AS CLC-1 ION CHANNEL INHIBITORS FOR TREATING NEUROMUSCULAR DISORDERS
24.12.2020
PCT/EP2020/067070 / NMD PHARMA A/S
The present disclosure relates to compounds suitable for treating, ameliorating and/or preventing neuromuscular disorders, including the reversal of drug-induced neuromuscular blockade. The compounds as defined herein can inhibit the ClC-1 ion channel.
WO/2020/254553 & WO/2020/254559
COMPOUNDS FOR THE TREATMENT OF NEUROMUSCULAR DISORDERS
24.12.2020
PCT/EP2020/067064 & PCT/EP2020/067072 / NMD PHARMA A/S
The present disclosure relates to compounds suitable for treating, ameliorating and/or preventing neuromuscular disorders, including the reversal of drug-induced neuromuscular blockade. The compounds as defined herein can inhibit the ClC-1 ion channel.
WO/2020/252129
METHODS OF TREATING FABRY DISEASE IN PATIENTS HAVING RENAL IMPAIRMENT
17.12.2020
PCT/US2020/037174 / AMICUS THERAPEUTICS, INC.
Provided are methods for treatment of Fabry disease in a patient having renal impairment. Certain methods comprise administering to the patient about 100 mg to about 300 mg free base equivalent of migalastat or salt thereof at a frequency of greater than once every other day, such as once every four or seven days. Certain methods comprise measuring lyso-Gb3 and/or migalastat in one or more plasma samples from the patient.
WO/2020/251748
NOVEL TREATMENT FOR WOLFRAM SYNDROME
17.12.2020
PCT/US2020/034539 / YALE UNIVERSITY
The present invention is directed to a novel treatment for Wolfram Syndrome or heterozygous wolframin, to methods of treatment in order to delay, inhibit, ameliorate and/or reduce the likelihood of symptomology of a patient with Wolfram Syndrome or heterozygous wolframin.
WO/2020/250234
COMPOSITION COMPRISING PRIDOPIDINE AND ANALOG THEREOF FOR TREATING HUNTINGTON DISEASE AND SYMPTOMS THEREOF
17.12.2020
PCT/IL2020/050654 / PRILENIA NEUROTHERAPEUTICS LTD.
This invention is directed to a method of treating a human patient afflicted with Huntington disease and/or symptoms thereof, comprising administering to the patient a pharmaceutical composition comprising pridopidine or a pharmaceutically acceptable salt thereof and an analog thereof or a pharmaceutically acceptable salt thereof.
WO/2020/249717
CASEIN KINASE 1 INHIBITORS FOR USE IN THE TREATMENT OF DISEASES RELATED TO DUX4 EXPRESSION SUCH AS MUSCULAR DYSTROPHY AND CANCER
17.12.2020
PCT/EP2020/066280 / FACIO INTELLECTUAL PROPERTY B.V.
The present invention relates to casein kinase 1 inhibitors alone or in combination with p38 inhibitors for use in the treatment of diseases related to DUX4 expression, such as muscular dystrophies and cancer.
WO/2020/249977
TREATMENTS OF HEREDITARY ANGIOEDEMA
17.12.2020
PCT/GB2020/051439 / KALVISTA PHARMACEUTICALS LIMITED
The present invention relates to treatments of hereditary angioedema (HAE). In particular, the present invention provides on-demand treatments of hereditary angioedema (HAE) by orally administering a plasma kallikrein inhibitor to a patient in need thereof on-demand. Regular (or continuous) treatments of HAE are also provided.
WO/2020/249577
NEW TREATMENT OF SMA
17.12.2020
PCT/EP2020/066003 / F. HOFFMANN-LA ROCHE AG
The present invention relates to 7-(4,7-diazaspiro[2.5]octan-7-yl)-2-(2,8-dimethylimidazo[1,2- b]pyridazin-6-yl)pyrido[1,2-a]pyrimidin-4-one for use in the treatment of spinal muscular atrophy (SMA), its pharmaceutical composition to be used in the treatment of SMA, its methods of treatment thereof.
WO/2020/247774
METHODS FOR THE TREATMENT OF ALPHA-1 ANTITRYPSIN DEFICIENCY (AATD)
10.12.2020
PCT/US2020/036359
ARROWHEAD PHARMACEUTICALS, INC.
Described are methods for treating alpha- 1 antitrypsin deficiency (AATD) in a human patient in need of treatment, using pharmaceutical compositions that include AAT RNAi agents. The pharmaceutical compositions disclosed herein that include AAT RNAi agents, when administered to a human patient in need thereof, treat liver diseases associated with AAT deficiency such as chronic hepatitis, cirrhosis, increased risk of hepatocellular carcinoma, transaminitis, cholestasis, fibrosis, fulminant hepatic failure, and other liver-related diseases.
WO/2020/247746
USE OF RECOMBINANT ADAMTS13 FOR TREATING SICKLE CELL DISEASE
10.12.2020
PCT/US2020/036320 / BAXALTA INCORPORATED
The disclosure provides a method for treating sickle cell disease with A Disintegrin And Metalloproteinase with Thrombospondin type 1 motif, member-13 (ADAMTS13). The disclosure provides a method for increasing ADAMTS13-mediated von Willebrand factor (VWF) cleavage in a subject suffering from sickle cell disease by administering ADAMTS13. The disclosure also provides a method of treating a vaso-occlusive crisis (VOC) in a subject suffering from sickle cell disease by administering ADAMTS13 after the onset of the VOC. The disclosure also provides a method of preventing a VOC in a subject suffering from sickle cell disease by administering ADAMTS13 prior to the onset of the VOC. The disclosure also provides a method of determining the efficacy of a treatment for a VOC in a mouse model.
WO/2020/247654
SETBP1 AND XPO1 INHIBITORS FOR THE TREATMENT OF SICKLE CELL DISEASE AND BETA-THALASSEMIA
10.12.2020
PCT/US2020/036151 / THE HENRY M. JACKSON FOUNDATION FOR THE ADVANCEMENT OF MILITARY MEDICINE, INC.
The present disclosure relates to compounds that inhibit SETBP1 or XP01 activities. Also disclosed are methods of using such compounds to increase the expression of embryonic and fetal hemoglobin molecules, and to treat sickle cell disease and β- thalassemia. The present invention relates to unexpected findings that transcription factor SETBP1 regulates embryonic and fetal hemoglobin repression, and inhibition of SETBP1 can induce the expression of embryonic and fetal hemoglobins.
WO/2020/247615
KETAMINE AND KETAMINE/NAP FOR TREATMENT OF ADNP SYNDROME AND RELATED NEUROLOGICAL CONDITIONS
10.12.2020
PCT/US2020/036103 / SERMONE, Sandra
The invention is directed to a method of increasing the expression of Activity-Dependent Neuroprotector Protein (ADNP) in at least one mammalian cell showing insufficient ADNP expression levels, comprising administering to the at least one mammalian ceil an effective amount of ketamine or a combination of ketamine and ADNP-Derived Neuroproteetive Peptide (NAP).
*** Helsmoortel-Van Der Aa Syndrome / HVDAS) ***
WO/2020/247336
PIFITHRIN ANALOGUES AND METHODS OF TREATING RETT SYNDROME
10.12.2020
PCT/US2020/035643 / THE REGENTS OF THE UNIVERSITY OF CALIFORNIA
Disclosed herein are Pifithrin compounds, methods of treating Rett Syndrome, brain fusion organoids comprising a fusion between a cerebral cortex (Cx) organoid and the ganglionic eminence (GE) organoid, one of which comprises, consists essentially of, or consists of neural cells having a loss of function mutation in the Methyl-CpG Binding Protein 2 (MECP2) gene, and methods of using the brain fusion organoid to screen for candidate compounds that treat, reduce, or inhibit the abnormal neural activities caused by MECP2 − mutations.
WO/2020/247127
COMPOSITIONS AND METHODS FOR TREATING CENTRAL NERVOUS SYSTEM DISORDERS
10.12.2020
PCT/US2020/031217 / PAXMEDICA, INC.
The present invention provides compositions and methods for treating cognitive, social, or behavioral disabilities, and neurodevelopmental disorders such as autism spectrum disorder (ASD) and other central nervous system disorders such as fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), chronic fatigue syndrome (CFS), and post-traumatic stress syndrome (PTSD). The present invention provides compositions and methods for the intranasal delivery (IN) of a therapeutically effective amount of an antipurinergic agent such as suramin for treating the disorder in a patient thereof.
WO/2020/246832
COMPOSITION FOR PREVENTING OR TREATING POTASSIUM CHANNELOPATHY
10.12.2020
PCT/KR2020/007299 / INDUSTRY-ACADEMIC COOPERATION FOUNDATION, YONSEI UNIVERSITY
The present invention relates to a composition for preventing or treating potassium channelopathy and a method for activating the potassium ion channel function of KCNQ4 in a subject or a biological sample. The present invention effectively recovers the ion channel function of the potassium channel in potassium channelopathy, due to a functional abnormality of the potassium channel, more particularly a nonsyndromic progressive hearing loss. Therefore, the present invention can be utilized as a fundamental therapeutic method for eliminating the causation of the disease instead of allopathically treating the potassium channelopathy.
WO/2020/245233
ANTISENSE OLIGONUCLEOTIDES TARGETING ATXN3
10.12.2020
PCT/EP2020/065401 / F. HOFFMANN-LA ROCHE AG
The present invention relates to antisense LNA oligonucleotides (oligomers) complementary to ATXN3 pre-mRNA sequences, which are capable of inhibiting the expression of ATXN3 protein. Inhibition of ATXN3 expression is beneficial for the treatment of spinocerebellar ataxia.
WO/2020/243543
FIBROBLAST THERAPY FOR TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY
03.12.2020
PCT/US2020/035283 / FIGENE, LLC
Disclosed are compositions and methods of treating muscular dystrophies, including Duchenne Muscular Dystrophy (DMD) through administration of fibroblasts and modified fibroblasts systemically and locally. In certain embodiments, fibroblast cells are utilized for replacement of dystrophin through fusion and/or other means of horizontal gene transfer. In other embodiments, the disclosure teaches the use of fibroblasts for reduction of inflammatory reactions and/or immunological reactions which propagate and enhance myodestructive aspects of Duchenne Muscular Dystrophy. In other embodiments, fibroblasts are utilized as vectors for gene therapy and/or gene modifications approaches.
WO/2020/243446
METHODS AND COMPOSITIONS FOR TREATMENT OF SMITH KINGSMORE SYNDROME
03.12.2020
PCT/US2020/035145 / CHILDREN’S HOSPITAL MEDICAL CENTER
Methods for alleviating symptoms in a Smith Kingsmore Syndrome (SKS) patient using low doses of a mTOR inhibitor. Also provided herein are methods to determine suitable doses of a mTOR inhibitor for a SKS patient to alleviate at least one symptom associated with SKS with little or no negative impact on behavior features such as the sleep pattern of the SKS patient.
WO/2020/242935
METHODS OF TREATMENT FOR CYSTIC FIBROSIS
03.12.2020
PCT/US2020/034199 / Applicant VERTEX PHARMACEUTICALS INC
This application describes methods of treating cystic fibrosis comprising administering Compound I:, a pharmaceutically acceptable salt thereof, or a pharmaceutical composition comprising any of the foregoing.
WO/2020/241903
METHOD FOR TREATING MUSCULAR DYSTROPHY BY TARGETING DMPK GENE
03.12.2020
PCT/JP2020/021851 / ASTELLAS PHARMA INC.
‘Polynucleotides comprising the following base sequences: (a) a base sequence encoding a fusion protein of a nuclease-deficient CRISPR effector protein and a transcriptional repressor, and (b) a base sequence encoding a guide RNA targeting a continuous region of 18 to 24 nucleotides in length (…) in an expression regulatory region of a human DMPK gene, are expected to be useful for treating muscular dystrophy.
WO/2020/237391
OLIGONUCLEOTIDE THERAPY FOR WOLMAN DISEASE AND CHOLESTERYL ESTER STORAGE DISEASE
03.12.2020
PCT/CA2020/050740 / DEEP GENOMICS INCORPORATED
The present disclosure provides antisense oligonucleotides, compositions, and methods that target a LIPA intron flanking exon 8, thereby modulating splicing of LIPA pre-mRNA to increase the level of LIPA mRNA molecules having exon 8, e.g., to provide a therapy for Wolman Disease or Cholesteryl Ester Storage Disease. The present disclosure provides an antisense oligonucleotide including a nucleobase sequence at least 70% complementary to a LIPA pre-mRNA target sequence in a 5′-flanking intron, a 3′-flanking intron, or a combination of exon 8 and the 5′-flanking or 3′-flanking intron.
WO/2020/237294
NOVEL RETINITIS PIGMENTOSA TREATMENT
03.12.2020
PCT/AU2020/050516 / MURDOCH UNIVERSITY
An isolated or purified antisense oligomer for modifying pre-mRNA splicing in the CNOT3 gene transcript or part thereof.