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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CRISPR/CAS9 CORRECTION OF MUTATIONS IN DYSTROPHIN EXONS 43, 45 AND 52
PCT/US2021/018735 / THE UNIVERSITY OF TEXAS SYSTEM
Three DMD mouse models are provided that can be used to test a variety of DMD exon skipping and refraining strategies. Compositions and methods for restoring the reading frame of exon 43, exon 45, and exon 52 deletion via CRISPR-mediated exon skipping and refraining are also provided. The compositions and method provided herein can be used to permanently correct genetic mutations.
ADENO-ASSOCIATED VIRAL (AAV)-MEDIATED SGPL1 GENE THERAPY FOR TREATMENT OF SPHINGOSINE-1-PHOSPHATE LYASE INSUFFICIENCY SYNDROME (SPLIS)
PCT/US2021/018613 / CHILDREN’S HOSPITAL & RESEARCH CENTER AT OAKLAND
Methods and compositions for transferring a gene encoding sphingosine-1-phosphate lyase (SPL) in a subject in need thereof by using recombinant AAV virions. The subject may have or may develop SPL insufficiency syndrome (SPLIS). The subject may be identified on the basis of a genetic test and/or SPLIS symptoms. The methods and compositions are also useful in lowering circulating sphingosine-1-phosphate levels in a subject having elevated S1P levels.
AAV-MEDIATED TARGETING OF MIRNA IN THE TREATMENT OF X-LINKED DISORDERS
26.08.2021 / PCT/US2021/018593 / RESEARCH INSTITUTE AT NATIONWIDE CHILDREN’S HOSPITAL
The present disclosure relates to targeting of miRNA to activate expression of genes on the inactivated X chromosome. This gene therapy is useful for treating X-linked disorders, including Rett syndrome.
COMPOUND FOR THE TREATMENT OF A GLYCOGENOSIS
PCT/IB2021/051322 / ENEA – AGENZIA NAZIONALE PER LE NUOVE TECNOLOGIE, L’ENERGIA E LO SVILUPPO ECONOMICO SOSTENIBILE
A compound selected from a polynucleotide coding for a glycogen debranching enzyme (GDE), a vector and a host cell comprising the polynucleotide. The present invention further relates to the use of the compound for the treatment of a glycogenosis (GSD), preferably GSDIII.
HEAT SHOCK PROTEIN MODULATORS AND ANTI-HUNTINGTON DISEASE THERAPEUTIC AGENTS
PCT/US2021/017890 / UNIVERSITY OF PITTSBURGH
Disclosed are thiadiazine compounds, derivatives and compositions thereof that can be used for treating or preventing a heat-shock protein responsive disorder or suppressing protein aggregation in a subject. The compounds and compositions can also be used for treating cancer, neurodegenerative disorders, and other heat-shock protein responsive disorders.
ANTISENSE OLIGONUCLEOTIDES AND THEIR USE FOR TREATING PENDRED SYNDROME
PCT/US2021/017595 / ACCUTAR BIOTECHNOLOGY INC.
Novel antisense oligonucleotides that prevent or reduce exon 8 skipping in the SLC26A4 gene during pre-mRNA splicing, and their use in the treatment of Pendred Syndrome.
METHODS FOR TREATING AMYOTROPHIC LATERAL SCLEROSIS
PCT/US2021/017582 / THE GENERAL HOSPITAL CORP.
Methods of treating neurodegenerative diseases (e.g., Amyotrophic Lateral Sclerosis) and methods of evaluating the efficacy of these therapies. In one aspect, the disclosure provides methods for using CMAP amplitudes as a sensitive biomarker to identify treatments resulting in reduced neural excitability among patients afflicted with Amyotrophic Lateral Sclerosis (ALS).
METHODS OF TREATING FABRY DISEASE
PCT/US2021/017446 / AMICUS THERAPEUTICS, INC.
Methods for the treatment of Fabry disease in a patient, such as reducing the risk of composite clinical outcomes. Also provided are methods for assessing various symptoms of Fabry disease such as gastrointestinal symptoms, and methods of evaluating treatment therapies for Fabry disease.
COMBINATION THERAPY FOR TREATING AMYOTROPHIC LATERAL USING PRIDOPIDINE AND ANOTHER ACTIVE AGENT
PCT/IL2021/050172 / PRILENIA NEUROTHERAPEUTICS LTD.
A method for treating a human subject afflicted with ALS by administering pridopidine or pharmaceutically acceptable salt thereof in combination with sodium phenylbutyrate (PB), tauroursodeoxy cholic acid, combination of sodium phenylbutyrate/tauroursodeoxy cholic acid (i.e. AMX0035), Zilucoplan, Verdiperstat, CNM-Au8 nanocrystalline gold, SLS-005 (trehalose), IC14 or combination thereof as combination or add-on therapy.
METHOD FOR TREATING VASO OCCLUSIVE CRISES ASSOCIATED WITH SICKLE CELL DISEASE
PCT/EP2021/052906 / NICOX S.A.
A treatment of vaso-occlusive crisis associated with Sickle cell disease by administering a therapeutically effective amount of 4-(nitrooxy)butyl-(2S)-2-(6-methoxy-2-naphthyl) propanoate.
COMPOSITIONS AND METHODS FOR TREATING POMPE DISEASE
PCT/US2021/017113 / GENZYME CORP.
Methods of treating Pompe disease such as infantile-onset Pompe disease using a pharmaceutical composition comprising an oligosaccharide-acid a-glucosidase conjugate, such as avalglucosidase alfa. Also provided are formulations of the oligosaccharide-GAA conjugates.
GENE EDITING METHODS FOR TREATING SPINAL MUSCULAR ATROPHY
PCT/US2021/016929 / THE BROAD INSTITUTE, INC.
Methods, base editors, vectors encoding base editors and cognate gRNAs, and compositions and kits comprise said components, for installing nucleobase edits to the SMN2 locus to increase the activity and/or amount and/or stability of SMN2 protein in a cell, thereby treating Spinal Muscular Atrophy. In certain aspect, the disclosure provides compositions and methods to edit C840T of exon 7 of the SMN2 gene, or installing another one or more nucleobase edits which have the effect of removing or inactivating a degron, such as the C -terminal portion of the region encoded by exon 6 or the 4-amino acid region encoded by exon 8 (i.e., the EMLA (SEQ ID NO: 466) -tail) so as to remove or limit their degron activity to reduce, mitigate, or eliminate the intracellular degradation of the SMN2 protein.
METHODS FOR THE TREATMENT OF HUNTER SYNDROME
PCT/US2021/016913 / DENALI THERAPEUTICS INC.
A method of treating Hunter syndrome in a subject in need thereof, comprising administering to the subject a therapeutically effective dose of a pharmaceutical composition comprising an ETV:IDS protein.
METHODS FOR THE TREATMENT OF SCLERODERMA AND RELATED CONDITIONS
PCT/US2021/016666 / HZNP LIMITED
Antibodies against insulin-like growth factor 1 receptor (IGF-1R) and their use in methods of treatment of, and achievement of clinical outcomes in, scleroderma and forms thereof, including diffuse cutaneous systemic sclerosis.
METHODS AND COMPOUNDS FOR THE TREATMENT OF GENETIC DISEASE
PCT/US2021/016481 / DESIGN THERAPEUTICS, INC.
Compounds and methods for modulating the expression of dmpk, and treating diseases and conditions in which dmpk plays an active role. The compound can be a transcription modulator molecule having a first terminus, a second terminus, and oligomeric backbone, wherein: a) the first terminus comprises a DNA-binding moiety capable of noncovalently binding to a nucleotide repeat sequence CAG or CTG; b) the second terminus comprises a protein-binding moiety binding to a regulatory molecule that modulates an expression of a gene comprising the nucleotide repeat sequence CAG or CTG; and c) the oligomeric backbone comprising a linker between the first terminus and the second terminus.
COMPOSITION COMPRISING RILMENIDINE COMPOUND AS ACTIVE INGREDIENT FOR TREATMENT OF FRAGILE X SYNDROME OR RELATED DEVELOPMENTAL DISABILITY
PCT/KR2021/001548 / KONKUK UNIVERSITY GLOCAL INDUSTRYACADEMIC COLLABORATION FOUNDATION
A composition comprising rilmenidine, a rilmenidine metabolite, or a pharmaceutically acceptable salt thereof for prevention, amelioration, or treatment of fragile X syndrome, fragile X syndrome-related developmental disability, autism spectrum disorder, or schizophrenia.
USE OF MIRNA-485 INHIBITORS FOR TREATING AMYOTROPHIC LATERAL SCLEROSIS
PCT/IB2021/050975 / BIORCHESTRA CO., LTD.
The use of a miRNA inhibitor for treating ALS associated with a decreased level of SIRT1 protein or SIRT1 gene expression, PGC-1α protein and/or PGC-1α gene expression, CD36 protein and/or CD36 gene expression, NRG1 protein and/or NRG1 gene expression, STMN2 protein and/or STMN2 gene expression, and/or NRXN1 protein and/or NRXN1 gene expression.
COMBINATION THERAPY FOR TREATING MPS1
PCT/IB2021/050885 / GAIN THERAPEUTICS SA
Compounds of formula (I) and their salts and solvates, wherein B, R1, R2, R3, R3′, R4, R4′, and R5 are as set forth in the specification, as well as to methods for their preparation, pharmaceutical compositions comprising the same, and use thereof for the treatment and/or prevention of, e.g., MPS1, optionally in combination with α-L-iduronidase or an analog or variant thereof, e.g., laronidase.
METHODS FOR TREATING NEUROLOGICAL SYMPTOMS ASSOCIATED WITH LYSOSOMAL STORAGE DISEASES
PCT/IB2021/050879 / GENZYME CORP.
Methods for treating or preventing neurological symptoms and disorders which are associated with, e.g., lysosomal storage diseases. The methods include enhancing neuronal connectivity within the brain of a subject, increasing brain tissue volume, or preventing or delaying loss of brain tissue volume in a subject. Also provided are methods for monitoring the progression or regression of a neurological disorder, or assessing the onset of a neurological disorder, associated with a lysosomal storage disease, in which brain tissue volume of the subject is measured.
FENFLURAMINE FOR USE IN TREATING PATIENTS WITH LENNOX-GASTAUT SYNDROME
PCT/EP2021/052801 / ZOGENIX INTERNATIONAL LTD.
A method of treating symptoms of Lennox-Gastaut syndrome in a patient diagnosed with Lennox-Gastaut syndrome, by administering fenfluramine to that patient over a period of time sufficient to reduce or completely eliminate seizures in the patient. The fenfluramine may be administering in an oral liquid formulation on a daily basis of 0.7 mg/kg/day, over a period of weeks until seizures are reduced by 25% or more, 50% or more, 75% or more.
USE OF LOW DOSES OF HYDROXYCHLOROQUINE FOR THE TREATMENT OF LIPIN-1 DEFICIENCY
PCT/EP2021/052668 / INSERM
Lipin-1 deficiency is a rare, life-threatening condition that causes severe rhabdomyolysis episodes triggered by febrile illness and effort. Now, the inventors treated 10 patients with LPIN1 mutations with hydroxychloroquine in an off open-label use phases 1 and 2 study, to assess safety, clinical, and biological effects of the drug. A first inclusion group of patients were treated with oral HCQ at a dose of 6.5 mg/Kg/day in one intake, not exceeding 400 mg/day. Five patients have not presented any new acute RM under treatment, except for 2 patients experimented one and two episodes of RM respectively despite HCQ in a context of gastroenteritis. Plasma levels of HCQ were in the range of 400 ng/ml except in the two patients who experimented RM, in whom the plasma HCQ levels were higher (1000 ng/ml). With a therapeutic adjustment, in order to maintain plasma levels of HCQ under 700 ng/ml, in a new group of patients, two patients did not suffer from new acute RM under treatment. HCQ had not seem to have benefit effect for one patient.Thus, the inventors describe the first human experience with HCQ for Lipin-1 disease. The results allow the inventors to propose low doses of HCQ as a long-term treatment to prevent further relapses in this severe disease.
COMPOSITION OF LACTIC ACID BACTERIUM FOR USE IN PREVENTING OR TREATING RETT SYNDROME
PCT/CN2020/074445 / LEE, Wang-Tso
A method of preventing or treating Rett syndrome in a subject in need thereof, including administering to the subject an effective amount of Lactobacillus plantarum subsp. plantarum PS128. Also provided is a composition comprising L. plantarum subsp. plantarum PS128 and a carrier thereof.
COMPOSITIONS USEFUL FOR TREATING GM1 GANGLIOSIDOSIS
PCT/US2021/015988 / THE UNIVERSITY OF PENNSYLVANIA
A therapeutic regimen useful for treatment of GM1 gangliosidosis comprising administration of a recombinant adeno-associated virus (rAAV) vector having an AAV capsid and a vector genome comprising a sequence encoding human β-galactosidase is provided. Also provided are compositions containing a rAAV vector and methods of treating GM1 gangliosidosis in patient comprising administration of a rAAV vector.
METHODS OF TREATMENT FOR ALPHA-1 ANTITRYPSIN DEFICIENCY
PCT/US2021/015614 / VERTEX PHARMACEUTICALS INC.
Methods of treating alpha-1 antitrypsin deficiency (AATD) comprising administering Compound I, a deuterated derivative thereof, and/or a pharmaceutically acceptable salt thereof. The application also describes pharmaceutical compositions comprising Compound I, a deuterated derivative thereof, and/or a pharmaceutically acceptable salt thereof.
TREATMENT OF MUCOPOLYSACCHARIDOSIS II WITH RECOMBINANT HUMAN IDURONATE-2-SULFATASE (IDS) PRODUCED BY HUMAN NEURAL OR GLIAL CELLS
PCT/US2021/015446 / REGENXBIO INC.
Compositions and methods for the delivery of recombinant human iduronate-2-sulfatase produced by human neuronal or glial cells to the cerebrospinal fluid of the central nervous system of a human subject diagnosed with MPS II.
TREATMENT OF MUCOPOLYSACCHARIDOSIS IV-A
PCT/US2021/015436 / REGENXBIO INC.
Gene therapy methods for the treatment of mucopolysaccharidosis type IV A (MPS IV A) involving the use of recombinant adeno-associated viruses (rAAVs) to deliver human N-acetylgalactosamine-6-sulfate sulfatase (hGALNS) to the bone of a human subject diagnosed with MPS IVA. Also provided herein are rAAVs that can be used in the gene therapy methods and methods of making such rAAVs.
COMPLEMENT COMPONENT C5 IRNA COMPOSITIONS FOR USE IN THE TREATMENT OF AMYOTROPHIC LATERAL SCLEROSIS
PCT/US2021/015415 / ALNYLAM PHARMACEUTICALS, INC.
The invention relates to iRNA, e.g., double-stranded ribonucleic acid (dsRNA), compositions targeting the complement component C5 gene for methods of using such iRNA to inhibit expression of C5 and to treat subjects having ALS.
COMPOUNDS, COMPOSITIONS AND METHODS FOR STABILIZING TRANSTHYRETIN AND INHIBITING TRANSTHYRETIN MISFOLDING
PCT/US2021/015271 / PROTEGO BIOPHARMA, INC.
Compounds having activity against TTR related conditions, and pharmaceutically accepted salts and solvates thereof. Also provided are methods of using the compounds for inhibiting and preventing TTR aggregation and/or amyloid formation in the peripheral nerves, kidney, cardiac tissue, eye and CNS, and of treating a subject with peripheral TTR amyloidosis.
TREATMENT FOR CHONDRODYSTROPHIA
PCT/JP2021/003133 / KYOTO UNIVERSITY
A pharmaceutical composition for treating chondrodystrophia and containing 1-[(3S)-3-[4-amino-3-[2-(3,5-dimethoxyphenyl)ethynyl]-1H-pyrazolo[3,4-d] pyrimidin-1-yl]-1-pyrrolidinyl]-2-propen-1-one or a pharmaceutically acceptable salt thereof. A therapeutic method using said pharmaceutical composition.