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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COMPOSITIONS AND METHODS FOR TREATING GLYCOGEN STORAGE DISORDERS
PCT/US2020/057081 / AUDENTES THERAPEUTICS, INC.
Compositions and methods useful for treating glycogen storage disorders, such as type II glycogen storage disorder, also referred to herein as Pompe disease. Using the compositions and methods of the disclosure, a patient (e.g., a mammalian patient, such as a human patient) having Pompe disease may be administered a viral vector, such as an adeno-associated viral (AAV) vector, that contains a transgene encoding acid alpha-glucosidase.
METHODS FOR TREATING CONGENITAL EPIDERMAL HYPERPLASIA
PCT/US2020/070683 / CHEMISTRYRX
Compositions and methods for treating congenital epidermal or dermal hyperplasia by using topically administered oncokinase inhibitors such as trametinib, pyrrole derivatives, TAK- 733, CH4987655, RDEA119/BAY 869766, cobimetinib, binimetinib, selumetinib, and the like are described herein.
BICYCLIC COMPOUNDS AND METHODS FOR THEIR USE IN TREATING PITT HOPKINS SYNDROME
PCT/US2020/029739 / NEUREN PHARMACEUTICALS LTD.
Compounds, compositions, methods, and uses for therapeutic diketopiperazines, including cyclic G-2-Allyl Proline and other cyclic Glycyl Proline compounds to treat Pitt Hopkins Syndrome and symptoms thereof, as well as manufacture of compositions, medicaments including tablets, capsules, liquid formulations, gels, injectable solutions, and other formulations that are useful for treatment of such conditions.
USE OF IMIDAZOPYRIMIDINE OR IMIDAZOTRIAZINE COMPOUND FOR PREVENTION, ALLEVIATION, OR TREATMENT OF DEVELOPMENTAL DISABILITY
PCT/KR2020/014400 / SK BIOPHARMACEUTICALS CO., LTD.
A use, for the prevention, alleviation, or treatment of developmental disability, of an imidazopyrimidine or imidazotriazine compound of chemical formula 1, or a pharmaceutically acceptable salt, solvate or hydrate thereof.
USE OF CANNABIDIOL PREPARATIONS IN THE TREATMENT OF FRAGILE X SYNDROME
PCT/GB2020/052696 / GW RESEARCH LTD.
Use of a cannabidiol (CBD) preparation in the treatment of Fragile X syndrome (FXS). In particular the CBD preparation is characterized by chemical components and/or functional properties that distinguish them from prior CBD compositions. Preferably the CBD used is in the form of a botanically derived purified CBD which comprises greater than or equal to 98% (w/w) CBD and less than or equal to 2% (w/w) of other cannabinoids. The other cannabinoids present are THC at a concentration of less than or equal to 0.1% (w/w); CBD-C1 at a concentration of less than or equal to 0.15% (w/w); CBDV at a concentration of less than or equal to 0.8% (w/w); and CBD-C4 at a concentration of less than or equal to 0.4% (w/w). The botanically derived purified CBD preferably also comprises a mixture of both trans-THC and cis-THC. Alternatively, a synthetically produced CBD is used.
ELECTROPHILIC NITROALKENE BENZOIC ACID DERIVATES AS THERAPEUTIC DRUGS IN AMYOTROPHIC LATERAL SCLEROSIS (ALS) AND OTHER NEURODEGENERATIVE CONDITIONS
PCT/EP2020/080088 / INSTITUT PASTEUR DE MONTEVIDEO
Use of nitroalkene derivatives for the treatment of neurodegenerative conditions in mammals in which neuroinflammation is a contributing factor, such as in amyotrophic lateral sclerosis (ALS).
METHODS AND COMPOSITIONS FOR TREATING SICKLE CELL DISEASE WITH A FERROPORTIN INHIBITOR (VIT-2763)
PCT/EP2020/079802 / VIFOR (INTERNATIONAL) AG
Compounds and pharmaceutically acceptable salts thereof for the use in the treatment of sickle cell disease and for the use in preventing and treating vascular inflammation and vaso-occlusion.
2,3,5-TRIMETHYL-6-NONYLCYCLOHEXA-2,5-DIENE-1,4-DIONE FOR SUPPRESSING AND TREATING HEMOGLOBINOPATHY, THALASSEMIA, SICKLE CELL DISEASE AND OTHER DISORDERS
PCT/US2020/056179 / PTC THERAPEUTICS, INC.
Methods of treating or suppressing a disorder selected from the group consisting of hemoglobinopathy, thalassemia, α-thalassemia, α-thalassemia minima, α-thalassemia minor, β-thalassemia, β-thalassemia minor, β-thalassemia major, β-thalassemia intermedia, δ-thalassemia, sickle-cell disease, and combinations thereof, comprising administering to a subject in need thereof a therapeutically effective amount of a compound of the formula: (I) or the hydroquinone form thereof; or a solvate or hydrate thereof.
MOTOR NEURON DEGENERATION INHIBITOR
PCT/JP2020/038851 / KYOTO UNIVERSITY
PCT/JP2020/038850 / TAKEDA PHARMACEUTICAL COMPANY LTD.
Provided is a compound which has an effect of inhibiting neuron degeneration, in particular, an effect of inhibiting motor neuron degeneration and which is useful as a prophylactic or therapeutic agent for motor neuron diseases (for example, amyotrophic lateral sclerosis, progressive bulbar paralysis, progressive muscular atrophy, primary lateral sclerosis, progressive pseudobulbar paralysis, spinal muscular atrophy, Parkinson’s disease, Lewy body dementia, multiple system atrophy and Friedreich’s ataxia), etc.
COMBINATION TREATMENT FOR CYSTIC FIBROSIS
PCT/IB2019/001161 / INSERM
The inventors have instigated the combination of tezacaftor and ivacaftor and TSB ANO1. They show that said combination increases mucociliary clearance. Thus the combination represents an alternative treatment for CF subjects.
USE OF ESCULENTIN AND ITS DERIVATIVES FOR USE IN THE TREATMENT OF CYSTIC FIBROSIS
PCT/EP2020/078394 / UNIVERSITÀ DEGLI STUDI DI ROMA “LA SAPIENZA”
Compositions comprising as active ingredients Esculentin-1a(1-21)NH2 and/or Esculentin diastereomer Esc(1-21)-1c for use for restoring dysregulation of water and/or ions content and/or composition of the periciliary liquid due to mutations of the CFTR gene encoding for Cystic fibrosis transmembrane conductance regulator (CFTR) and for use for the treatment of cystic fibrosis.
ENGINEERING RED BLOOD CELLS FOR TREATMENT OF LYSOSOMAL STORAGE DISEASES
PCT/CN2020/121522 / WESTLAKE THERAPEUTICS (HANGZHOU) CO. LTD.
A method of treating a subject having a lysosomal storage disease, comprising administering red blood cells or Lin- hematopoietic stem and/or progenitor cells engineered to express a polypeptide, wherein the polypeptide can be α-GAL A or GRHPR. Also provided are a method of producing red blood cells from Lin – hematopoietic stem and/or progenitor cells in vitro, red blood cells produced by the method, and compositions comprising the red blood cells.
COMPOSITIONS AND METHODS FOR UPREGULATING ISOFORMS OF DYSTROPHIN AS THERAPY FOR DUCHENNE MUSCULAR DYSTROPHY (DMD)
PCT/US2020/055089 / YALE UNIVERSITY
Methods for treating a disease or disorder that is associated with aberrant or absent dystrophin, by upregulating a brain isoform of dystrophin (e.g. purkinje and/or cortical) in a subject in need thereof. The method comprises administering to the subject a composition that upregulates a brain isoform of dystrophin.
METHODS AND COMPOSITIONS FOR TREATING ATAXIA TELANGIECTASIA
PCT/US2020/054718 / CHILDREN’S MEDICAL CENTER CORPORATION
Antisense oligonucleotides and prophylactic and therapeutic methods featuring such oligonucleotides. These oligonucleotides and methods are useful for treating or preventing ataxia telangiectasia in a subject. Specifically, the disclosure provides antisense nucleobase oligomers each comprising (8-40) nucleobases, wherein at least 90% of said nucleobases or more than (8) consecutive nucleobases of the oligomer are complementary to a nucleic acid sequence in an Ataxia-Telangiectasia Mutated (ATM) allele comprising a mutation associated with aberrant splicing.
ALDOSE REDUCTASE INHIBITORS FOR TREATMENT OF PHOSPHOMANNOMUTASE 2 DEFICIENCY
PCT/US2020/054607 / APPLIED THERAPEUTICS INC.
The disclosure relates to methods for treating PMM2-CDG using aldose reductase inhibitors.
INHIBITOR OF DJ-1 FOR USE IN TREATING IMMUNOAGING
PCT/EP2020/078207 / LUXEMBOURG INSTITUTE OF HEALTH (LIH)
An inhibitor of DJ-1 (PARK7) for use in a method of treatment or prevention of immunoaging in a subject, for use in a method of treatment or prevention of a premature aging disease in a subject, or for use in a method of treatment or prevention of vaccination inefficiency in a subject. In particular embodiments, the subject has been selected to have or has a premature aging disease, such as progeria, or the subject is an elderly subject.
BRM TARGETING COMPOUNDS AND ASSOCIATED METHODS OF USE
PCT/US2020/053815 / ARVINAS OPERATIONS, INC.
Bifunctional compounds, which find utility as modulators of SMARCA2 or BRM (target protein). In particular, the present disclosure is directed to bifunctional compounds, which contain on one end a ligand that binds to the Von Hippel-Lindau E3 ubiquitin ligase, and on the other end a moiety which binds the target protein, such that the target protein is placed in proximity to the ubiquitin ligase to effect degradation (and inhibition) of target protein. The present disclosure exhibits a broad range of pharmacological activities associated with degradation/inhibition of target protein. Diseases or disorders that result from aggregation or accumulation of the target protein are treated or prevented with compounds and compositions of the present disclosure.
METHODS OF TREATMENT FOR ALPHA-1 ANTITRYPSIN DEFICIENCY
PCT/US2020/053777 / VERTEX PHARMACEUTICALS INCORPORATED
Methods of treating alpha-1 antitrypsin deficiency (AATD) comprising administering Compound I and/or a pharmaceutically acceptable salt thereof. (I) The application also describes pharmaceutical compositions comprising Compound I and/or a pharmaceutically acceptable salt thereof.
BENZOXAZINONE COMPOUNDS AS KLK5/7 DUAL INHIBITORS 08.04.2021 Int.Class A61K 31/536
PCT/US2020/053369 / MOLECULAR SKIN THERAPEUTICS, INC.
Compounds and pharmaceutical compositions including the compounds for the treatment of a skin disease associated with proteolytic activity of one or more KLK proteases, wherein the compounds are according to formula (I): wherein R is as described herein.
METHODS OF TREATING POMPE DISEASE
PCT/US2020/053352 / ACADEMIA SINICA
Novel uses of ADMDP stereoisomers or their derivatives for the manufacture of a medicament for treating Pompe disease. Accordingly, the present disclosure provides a method of treating Pompe disease in a subject. The method includes the step of, administering to the subject a therapeutically effective amount of a compound of formula (I), or a salt, an ester or a solvate thereof, wherein R1 and R2 are independently H or alkyl optionally substituted by -NH2 or -OH, so as to ameliorate, alleviate mitigate and/or prevent symptoms associated with the Pompe disease. According to certain embodiments of the present disclosure, the compound of formula (I) may serve a stabilizer of α-glucosidase via preventing its denaturalization of deactivation.
THERAPEUTIC AGENT FOR MUSCULAR DYSTROPHY
PCT/JP2020/037520 / THE UNIVERSITY OF TOKYO
A novel therapeutic agent for MD which is not a drug for exon skipping and which exerts an excellent effect on patients over a broad range. The therapeutic agent for MD comprises a combination of a prostaglandin synthesis inhibitor with a CRTH2 receptor antagonist.
METHODS FOR TREATING HYPERPHENYLALANINEMIA
PCT/US2020/052871 / PTC THERAPEUTICS MP, INC.
Methods of reducing the blood phenylalanine concentration in a subject by administering sepiapterin, or a pharmaceutically acceptable salt thereof.
METHODS AND COMPOSITIONS FOR TREATING SICKLE CELL DISEASE AND THALASSEMIA
PCT/US2020/052842 / THE UNIVERSITY OF CHICAGO
Methods and compositions for treating sickle cell anemia or thalassemia in a subject in need thereof. As described herein in a first aspect the present disclosure provides a method of treating an inherited blood disorder in a subject In need thereof comprising administering to the subject a therapeutically effective amount of a bromodomain and extra-terminal motif (BET) protein inhibitor.
METHODS AND COMPOSITIONS FOR MODULATING FRATAXIN EXPRESSION AND TREATING FRIEDRICH’S ATAXIA
PCT/US2020/052101 / OMEGA THERAPEUTICS, INC.
COMBINED USE OF BIOTIN AND THIAMINE IN THE TREATMENT OF HUNTINGTON’S DISEASE
PCT/ES2020/070570 / CONSEJO SUPERIOR DE INVESTIGACIONES CIENTÍFICAS (CSIC)
Use of a combination of vitamins, more specifically to the combined use of biotin and thiamine, for the treatment of Huntington’s disease. More specifically, the invention explains that treatment with a combination of biotin and thiamine can improve the neurological, neuroimaging and spectroscopic symptoms associated with Huntington’s disease.