International Rare Disease Patent Applications Published in February 2021

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.

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/2021/035181
UBE3A FOR THE TREATMENT OF ANGELMAN SYNDROME
25.02.2021
PCT/US2020/047505 / THE REGENTS OF THE UNIVERSITY OF CALIFORNIA
Provided herein are polynucleotides, vectors, polypeptides, cells, compositions, kits and methods to treat Angelman syndrome.

WO/2021/035120
ADENO-ASSOCIATED VIRUS VECTOR DELIVERY OF ALPHA-SARCOGLYCAN AND THE TREATMENT OF MUSCULAR DYSTROPHY
25.02.2021
PCT/US2020/047339 / RESEARCH INSTITUTE AT NATIONWIDE CHILDREN’S HOSPITAL
Described herein are methods of treating muscular dystrophy in a subject, comprising administration of a recombinant AAV vector AAVrh74.tMCK.hSCGA using a systemic route of administration and at a dose of about 1.0 x 1012 vg/kg to about 5.0 x 1015 vg/kg. Further disclosed are methods of expressing alpha-sarcoglycan gene in a cell or in a subject in need thereof, decreasing a serum CK level, and increasing alpha-sarcoglycan positive fibers in muscle tissue of a subject.

WO/2021/035101
MOLECULES THAT BIND TO TDP-43 FOR THE TREATMENT OF AMYOTROPHIC LATERAL SCLEROSIS AND RELATED DISORDERS
25.02.2021
PCT/US2020/047287 / BIOHAVEN THERAPEUTICS LTD.
TDP-43 binding agents having a disease-modifying action in the treatment of diseases associated with TDP-43 that include ALS, FTLD, CTE, hippocampal sclerosis of aging (CARTS), Alzheimers disease, and Alzheimers disease related disorder, and disease that involve excess amounts of TDP-43 in the cytosol.

WO/2021/032643
COMPOUNDS SUITABLE FOR THE TREATMENT AND PROPHYLAXIS OF MUSCLE WASTING AND OTHER CONDITIONS
25.02.2021
PCT/EP2020/072911 / ADAMS, Volker
Compounds of formula I for use in the treatment or prophylaxis of muscle wasting conditions, of skeletal or cardial muscle atrophy, of conditions, in particular of myopathies, which are associated with an increased Muscle RING Finger 1 (MuRF1) expression and of other conditions; to the compounds of formula I for use as a medicament; to a pharmaceutical composition comprising at least one compound of formula I and to a method for treating said conditions.

WO/2021/030766
COMBINATION THERAPY FOR SPINAL MUSCULAR ATROPHY
18.02.2021
PCT/US2020/046546 / BIOGEN MA INC.

Therapeutic combinations of a small molecule that promotes SMN function and/or a recombinant nucleic acid that encodes the survival of motor neuron 1 (SMN1) protein (e.g., in a viral vector), and/or an antisense oligonucleotide (ASO) that increases full-length survival of motor neuron 2 (SMN2) mRNA (e.g., that is targeted to a nucleic acid molecule encoding the survival of motor neuron 2 (SMN2) and promotes the inclusion of exon 7 in SMN2 mRNA).

WO/2021/030678
TARGETING OF THE CYTOSKELETON AS A THERAPEUTIC APPROACH FOR NEURODEGENERATIVE DISEASE
18.02.2021
PCT/US2020/046346 / UNIVERSITY OF MASSACHUSETTS
Compositions and methods useful for the modulating the function of the nuclear pore and/or nucleocytoplasmic transport (NCT). In some embodiments, the disclosure relates to methods of treatment of a neurodegenerative disease (e.g., amyotrophic lateral sclerosis).

WO/2021/030555 & ‘556
MODULATORS OF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR
18.02.2021
PCT/US2020/046120 / VERTEX PHARMACEUTICALS INC.
Modulators of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR), pharmaceutical compositions containing at least one such modulator, methods of treatment of cystic fibrosis using such modulators and pharmaceutical compositions, and processes for making such modulators.

WO/2021/030552
CRYSTALLINE FORMS OF CFTR MODULATORS
18.02.2021
PCT/US2020/046113 / VERTEX PHARMACEUTICALS INC.
Crystalline forms of Compound I: Formula (I) pharmaceutically acceptable salts thereof, and solvates and hydrates thereof are disclosed. Pharmaceutical compositions comprising the same, methods of treating cystic fibrosis using the same, and methods for making the same.

WO/2021/028698
TREATMENT OF FRAGILE X SYNDROME
18.02.2021
PCT/GB2020/051949 / HEALX LTD
A composition comprising ibudilast, or a pharmaceutically acceptable salt thereof, for use in the treatment of Fragile X syndrome, wherein the composition does not comprise sulindac, or a pharmaceutically acceptable salt thereof, or bumetanide, or a pharmaceutically acceptable salt thereof.

WO/2021/028666
CONJUGATE AND USES THEREOF
18.02.2021
PCT/GB2020/051891 / OXFORD UNIVERSITY INNOVATION LTD.
Conjugates formed from a cell-penetrating peptide carrier linked to a therapeutic molecule, wherein the peptide carrier is defined by specific domains and the therapeutic molecule is a nucleic acid formed of trinucleotide repeats. The present invention further relates to the use of such a conjugate in methods of treatment or as a medicament, especially in the treatment of trinucleotide repeat disorders such as myotonic dystrophy (DM1).

WO/2021/026447
METHODS OF TREATING FABRY DISEASE IN PATIENTS HAVING A MUTATION IN THE GLA GENE
11.02.2021
PCT/US2020/045392 / AMICUS THERAPEUTICS, INC.
Methods of enhancing alpha-galactosidase A in a patient diagnosed with or suspected of having Fabry disease. Certain methods comprise administering to a patient a therapeutically effective dose of a pharmacological chaperone for alpha-galactosidase A, wherein the patient has a mutation in the nucleic acid sequence encoding alpha-galactosidase A. Also described are uses of pharmacological chaperones for the treatment of Fabry disease and compositions for use in the treatment of Fabry disease.

WO/2021/025899
PHOSPHORODIAMIDATE MORPHOLINO OLIGOMER PHARMACEUTICAL COMPOSITIONS
11.02.2021
PCT/US2020/043824 / SAREPTA THERAPEUTICS, INC.
Compositions comprising golodirsen or casimersen. Also provided herein are methods of treating a muscle disease in a subject in need thereof, comprising administering to the subject a pharmaceutical composition of the disclosure.

WO/2021/024220
USE OF THE ANTI-P-SELECTIN ANTIBODY CRIZANLIZUMAB FOR TREATING SICKLE CELL NEPHROPATHY AND CHRONIC KIDNEY DISEASE ASSOCIATED WITH SICKLE CELL DISEASE
11.02.2021
PCT/IB2020/057438 / NOVARTIS AG
A method of treating chronic kidney disease due to sickle cell nephropathy in a patient in need of such treatment, comprising administering a pharmaceutically effective amount of an anti-P-selectin antibody or a binding fragment thereof to said patient and related invention embodiments.

WO/2021/023858
TrkB POSITIVE ALLOSTERIC MODULATORS
11.02.2021
PCT/EP2020/072233 / UNIVERSITÉ DE STRASBOURG
The present invention relates to the field of pharmaceutical composition comprising “LIT-TB” derivatives of formula I. More particularly it relates to “LIT-TB” derivatives for use in the treatment of neurodegenerative diseases, and more particularly in the treatment of Huntington’s disease. The invention also relates to the “LIT-TB” derivatives and preparation thereof.

WO/2021/022189
COMPOSITIONS AND METHODS FOR TREATING ALPHA THALASSEMIA
04.02.2021
PCT/US2020/044562 / THE REGENTS OF THE UNIVERSITY OF CALIFORNIA
Methods and compositions that use gene editing or gene therapy to treat alpha thalassemia major. The gene editing may be performed ex vivo in fetal cells or cells obtained after birth to improve production of globin, with those cells then delivered to the fetus. In other embodiments, gene editing reagents are delivered to the fetus or the patient after birth in vivo to edit genes of the alpha-globin cluster and improve globin production. Gene editing system such as CRISPR, TALENs, or ZFNs are used to increase production of alpha, zeta, or theta globin and/or to decrease production of gamma globin. Globin production may be improved by inserting a copy of globin gene or mutating a globin gene to change its expression. Any of the gene editing strategies may be performed in conjunction with delivering to a fetus or patient after birth a therapeutic blood transfusion. Exemplary patients after birth are patients no older than one year of age.

WO/2021/022161
COMPOSITIONS AND METHODS FOR TREATING SICKLE CELL DISEASE
04.02.2021
PCT/US2020/044506 / YALE UNIVERSITY
Peptide nucleic acid (PNA) oligomers that target the β-globin gene and can increase the frequency of recombination of donor oligonucleotide at the site of a Sickle Cell Disease mutation are provided. Nanoparticle formulations for delivering the PNA oligomers and donor oligonucleotides, and potentiating agents for increase the frequency of recombination of the donor oligonucleotide are also provided. Methods of using the PNA oligomers, donor oligonucleotides, nanoparticles, and potentiating agents for treating Sickle Cell Disease are also provided.

WO/2021/021999
COMPOSITIONS AND METHODS FOR UPREGULATION OF HUMAN FETAL HEMOGLOBIN
04.02.2021
PCT/US2020/044185 / THE UAB RESEARCH FOUNDATION
Compositions and methods for increasing fetal hemoglobin in a subject in need thereof. Also provided are compositions and methods for treating a hemoglobin disorder in a subject.

WO/2021/021988
TREATMENT OF CYSTIC FIBROSIS BY DELIVERY OF NEBULIZED MRNA ENCODING CFTR
04.02.2021
PCT/US2020/044158 / TRANSLATE BIO, INC.
The method comprises administration of a composition comprising an mRNA encoding a Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein by nebulization at a dose between 7 mg and 25 mg. A suitable dose for use in the method of the invention is selected on the basis that it provides the human subject with at least a 3% increase in absolute change in ppFEV1 (percent predicted forced expiratory volume in one second) from baseline ppFEV1 at two days following the administration. In addition or alternatively, the dose is selected to provide the human subject with at least a 2% increase in absolute change in ppFEV1 from baseline ppFEV1 at one week following the administration. In addition or alternatively, the dose is selected to provide the human subject with at least a 4% maximum increase in absolute change in ppFEV1 from baseline ppFEV1 through one week following administration.

WO/2021/021931
MATERIALS AND METHODS FOR TREATING FRIEDREICH’S ATAXIA
04.02.2021
PCT/US2020/044069 / THE TRUSTEES OF INDIANA UNIVERSITY
A TAT-FXN fusion polypeptide useful in treating subjects diagnosed with Friedrich’s Ataxia, hypertrophic cardiomyopathy, or both are disclosed, as are related methods of treatment and pharmaceutical compositions.

WO/2021/021615
RECOMBINANT HEME OXYGENASE-1 (HO-1) FOR THE TREATMENT OF SICKLE CELL DISEASE
04.02.2021
PCT/US2020/043452 / SHIRE HUMAN GENETIC THERAPIES, INC.
Methods and compositions for making and using recombinant heme oxygenase for treating sickle cell disease. In some embodiments, recombinant heme oxygenase proteins are truncation variants, or Fc fusion proteins with increased half-life and/or reduced aggregation.

WO/2021/019231
USE OF CANNABIDIOL IN THE TREATMENT OF DRAVET SYNDROME
04.02.2021
PCT/GB2020/051803 / GW RESEARCH LIMITED
Use of cannabidiol (CBD) for use in the treatment of disease modification in Dravet syndrome. In particular the CBD is used to improve neonatal welfare, survival and co-morbidities in patients with Dravet syndrome. 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.

WO/2021/019214
TREATMENT OF PITT-HOPKINS SYNDROME
04.02.2021
PCT/GB2020/051764 / HEALX LTD
Compositions and kits comprising: (i) minocycline, or a pharmaceutically acceptable salt thereof; and (ii) Compound A, or a pharmaceutically acceptable salt thereof, wherein Compound A is selected from the following list: amitriptyline, sulindac, ibudilast, cannabidiol, prochlorperazine, lamotrigine, topiramate, sertraline, amantadine, bumetanide, nicardipine and verapamil. The compositions and kits are useful in the treatment of Pitt-Hopkins syndrome.