International Rare Disease Patent Applications Published in November 2020

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/2020/236901
A NOVEL THERAPY FOR ERYTHROPOIETIC PROTOPORPHYRIA (EPP) AND X-LINKED PROTOPORPHYRIA (XLP)
26.11.2020
PCT/US2020/033746 / UNIVERSITY OF PITTSBURGH
Disclosed are novel compositions and methods of using the same for the treatment of Erythropoiefic protoporphyria (EPP) and X-linked protoporphyria (XLP). Disclosed are methods and compositions related to treating Erythropoietic protoporphyria and X-linked protoporphyria. Also described are therapeutic agents that can inhibit ABCG2. For example, provided herein are therapeutic agents defined by Formula I.

WO/2020/236562
METHODS FOR TREATING FAMILIAL ADENOMATOUS POLYPOSIS
26.11.2020
PCT/US2020/033080 / CANCER PREVENTION PHARMACEUTICALS, INC.
Provided are methods for preventing or delaying the need for surgical intervention in a patient having familial adenomatous polyposis (FAP) and an at least partially intact lower gastrointestinal tract. Also provided are methods for preventing or delaying the formation of neoplasia and/or cancer in a patient having FAP. The methods comprise administering an effective amount of a pharmaceutical therapy that comprises eflomithine and sulindac to a patient having FAP and an intact lower gastrointestinal tract.

WO/2020/235582
PREVENTIVE AND/OR THERAPEUTIC AGENT FOR MOTOR NEURON DISEASE
26.11.2020
PCT/JP2020/019877 / GREEN TECH CO., LTD.
A novel preventive and/or therapeutic agent for a motor neuron disease; and a pharmaceutical composition containing said preventive and/or therapeutic agent. The present invention includes a preventive and/or therapeutic agent which is for a motor neuron disease and contains, as an active ingredient, a compound represented by general formula (I) (in the formula, R represents hydrogen, a chain-like or cyclic hydrocarbon group which may have a substituent, or a heterocyclic group which may have a substituent, and Ar1 and Ar2 are the same as or different from each other, and represent a homocyclic group or a heterocyclic group which may have a substituent).

WO/2020/234496
MOXIFLOXACIN FOR USE IN THE TREATMENT OF SPINAL MUSCULAR ATROPHY
26.11.2020
PCT/ES2020/070311 / UNIVERSITAT DE VALÈNCIA
Described is moxifloxacin, or a pharmaceutically acceptable salt thereof, and a pharmaceutical composition comprising it, for use in the prevention and/or treatment of spinal muscular atrophy (SMA).

WO/2020/234439
COMPOSITION AND USE THEREOF FOR THE TREATMENT OF CUTANEOUS MASTOCYTOSIS
26.11.2020
PCT/EP2020/064248 / AC BIOSCIENCE SA
The invention provides topical pharmaceutical compositions and use thereof for treating or lessening the symptoms of, or preventing the symptoms of cutaneous mastocytosis.

WO/2020/234363
EXPRESSION VECTOR FOR CHOLESTEROL 24-HYDROLASE IN THERAPY OF RETT SYNDROME
26.11.2020
PCT/EP2020/064092 / INSERM
Rett syndrome (RTT) is a neurodevelopmental disorder that affects girls almost exclusively (about 1 in 10 000 females). It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. Herein, the inventors demonstrated that delivering a vector expressing a cholesterol 24-hydroxylase (CYP46A1) gene intravenously in a mouse model of RTT is able to prevent/correct the development of motor impairment, in a mild and an aggravated model of the disease both in male and female mice. In addition in males, the inventors demonstrated a prevention of the loss of Purkinje cells and an improvement of astrogliosis and microgliosis in the mild KO MECP2 model. Thus, the present invention relates to a vector for use in the treatment of Rett syndrome or related autism spectrum disorder, which vector comprises cholesterol 24-hydroxylase encoding nucleic acid.

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WO/2020/231977
COMPOUNDS FOR TREATING HUNTINGTON’S DISEASE
19.11.2020
PCT/US2020/032446 / PTC THERAPEUTICS, INC.
The present description relates to compounds, forms, and pharmaceutical compositions thereof and methods of using such compounds, forms, or compositions thereof for treating or ameliorating Huntington’s disease. In particular, the present description relates to substituted monocyclic heteroaryl compounds of Formula (I), Formula (II), or Formula (III), forms and pharmaceutical compositions thereof and methods of using such compounds, forms, or compositions thereof for treating or ameliorating Huntington’s disease.

WO/2020/229968
NON-LYSOSOMAL GLUCOSYLCERAMIDASE INHIBITORS AND USES THEREOF
19.11.2020
PCT/IB2020/054355 / ALECTOS THERAPEUTICS INC.
The invention provides compounds for inhibiting glucosylceramidases, prodrugs of the compounds, and pharmaceutical compositions including the compounds or prodrugs of the compounds.

WO/2020/228681
METHOD AND MEDICINE FOR TREATING AMYOTROPHIC LATERAL SCLEROSIS
19.11.2020
PCT/CN2020/089632 / TALENGEN INTERNATIONAL LIMITED
Disclosed is a method for treating amyotrophic lateral sclerosis (ALS), comprising administering a therapeutically effective amount of a plasminogen pathway activator to a subject. Further disclosed are a pharmaceutical composition, product and kit, which contain the plasminogen pathway activator, for treating amyotrophic lateral sclerosis.

WO/2020/228612
TYROSINEMIA TYPE I MONKEY MODEL, ESTABLISHMENT METHOD THEREFOR AND USE THEREOF
19.11.2020
PCT/CN2020/089238 / SUN YAT-SEN UNIVERSITY
Provided is a tyrosinemia type I monkey model, an establishment method therefor and the use thereof. The method comprises: designing a TALEN target of an FAH gene, constructing an FAH gene-knockout TALEN plasmid, obtaining and screening gene targeting RNA fragments and preparing an FAH gene-knockout monkey model. Establishment of the model can provide a reliable standard animal model for the subsequent development of the study and clinical transformation of gene therapy and cell therapy for hereditary metabolic deficiency diseases, and also provides an animal model which is closer to patients for screening of traditional drugs and evaluation of efficacy and safety, etc.

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WO/2020/227691
OLIGONUCLEOTIDE COMPOSITIONS AND METHODS OF USE THEREOF
12.11.2020
PCT/US2020/032244 / WAVE LIFE SCIENCES LTD.
Among other things, the present disclosure provides C9orf72 oligonucleotides, compositions, and methods thereof. In some embodiments, the present disclosure provides methods for treating C9orf72-associated conditions, disorders or diseases, such as amyotrophic lateral sclerosis and frontotemporal dementia.

WO/2020/227615
POLYNUCLEOTIDES ENCODING METHYLMALONYL-COA MUTASE FOR THE TREATMENT OF METHYLMALONIC ACIDEMIA
12.11.2020
PCT/US2020/032055 / MODERNATX, INC.
This disclosure relates to mRNA therapy for the treatment of methylmalonic acidemia (MMA). mRNAs for use in the invention, when administered in vivo, encode methylmalonyl-CoA mutase (MUT). mRNA therapies of the disclosure increase and/or restore deficient levels of MUT expression and/or activity in subjects.

WO/2020/227542
A METHOD TO PREVENT THE MYELIN ABNORMALITES ASSOCIATED WITH ARGINASE DEFICIENCY
12.11.2020
PCT/US2020/031891 / THE REGENTS OF THE UNIVERSITY OF CALIFORNIA
The invention disclosed herein provides methods and materials useful in gene therapy regimens designed to inhibit myelination abnormalities that occur in the urea cycle disorder arginase deficiency. The underlying cause of the progressive neurological dysfunction that occurs in this disorder has been previously unknown and conventional therapies, at best, only slow the onset of neurological dysfunction. This neurological dysfunction results at least in part from the dysmyelination that occurs in the central nervous system due to the lack of adequate hepatic expression of arginase 1. We have discovered an origin of this neurological dysfunction and, using this information, designed materials and associated methods of gene therapy. The methods and materials disclosed herein can inhibit and essentially prevent neurological dysfunction in a murine model of arginase deficiency.

WO/2020/227406
MICRO-RNA SITE BLOCKING OLIGONUCLEOTIDES FOR THE TREATMENT OF EPILEPTIC ENCEPHALOPATHY AND NEURODEVELOPMENTAL DISORDERS
12.11.2020
PCT/US2020/031672 / THE CHILDREN’S HOSPITAL OF PHILADELPHIA
Disclosed herein are compounds and methods for modulating expression of disease- causing genes such as STXBP1, SCN1A, SCN2A, SCN8A, SLC6A1, and MECP2. Such compounds and methods are useful to treat, prevent, or ameliorate epileptic encephalopathy and neurodevelopmental disorders in an individual in need thereof.

WO/2020/227399
PDE9 INHIBITORS FOR TREATING THALASSEMIA
12.11.2020
PCT/US2020/031659 / IMARA INC.
The present disclosure relates to PDE9 inhibitors, compositions comprising the PDE9 inhibitors, and methods of using the PDE9 inhibitors and compositions for treatment of thalassemia.

WO/2020/227166
COMPOSITIONS USEFUL IN TREATMENT OF METACHROMATIC LEUKODYSTROPHY
12.11.2020
PCT/US2020/031207 / THE TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA
Provided is a recombinant adeno-associated virus (rAAV) having an AAVhu68 capsid and a vector genome which comprises a nucleic acid sequence encoding a functional human arylsulfatase A (ARSA). Also provided are a production system useful for producing the rAAV, a pharmaceutical composition comprising the rAAV, and a method of treating a subject having metachromatic leukodystrophy, or ameliorating symptoms of metachromatic leukodystrophy, or delaying progression of metachromatic leukodystrophy via administrating an effective amount of the rAAV to a subject in need thereof.

WO/2020/225813
RESTORATION OF THE CFTR FUNCTION BY SPLICING MODULATION
12.11.2020
PCT/IL2020/050495 / YISSUM RESEARCH DEVELOPMENT COMPANY OF THE HEBREW UNIVERSITY OF JERUSALEM LTD.
The present invention provides oligonucleotides capable of binding to and modulating the splicing of the pre-mRNA of the CFTR gene, including compositions comprising the oligonucleotides, and uses thereof, such as for suppressing the inclusion of a cryptic exon between exon 22 and 23 as a result of the mutation 3849 +10Kb C-to-T, optionally in combination with additional CF therapeutics.

WO/2020/225606
CRISPR/CAS ALL-IN-TWO VECTOR SYSTEMS FOR TREATMENT OF DMD
12.11.2020
PCT/IB2020/000377 / VERTEX PHARMACEUTICALS INC.
The present disclosure provides materials and methods for treating a patient with Duchenne Muscular Dystrophy (DMD), e.g., through ex vivo and in vivo methods of genome editing. The present disclosure also relates to methods and compositions for use of self-inactivating/self-targeting CRISPR/Cas or CRISPR/Cpfl systems to genetically modify cells, e.g., to modulate the expression, function, and/or activity of the dystrophin gene.

WO/2020/225540
USE OF CANNABIDIOL IN THE TREATMENT OF TUBEROUS SCLEROSIS COMPLEX
12.11.2020
PCT/GB2020/051080 / GW RESEARCH LIMITED
The present invention relates to the use of a cannabidiol (CBD) preparation for use in the treatment of seizures associated with tuberous sclerosis complex (TSC). 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. In use the CBD is given concomitantly with one or more other anti-epileptic drugs (AED). Alternatively, the CBD may be formulated for administration separately, sequentially or simultaneously with one or more AED or the combination may be provided in a single dosage form.

WO/2020/223762
METHODS FOR TREATING MUSCULAR DYSTROPHY USING INHIBITORY OLIGONUCLEOTIDES TO CD49D
12.11.2020
PCT/AU2020/050445 / ANTISENSE THERAPEUTICS LTD
A method of modifying muscle or limb performance in a subject with or at risk of a condition associated with muscle atrophy, muscle fatty tissue, or pseudohypertrophy or a muscular dystrophy, by administering a pharmaceutical composition an inhibitory oligonucleotide to CD49d sufficient to modify one or more markers, signs or parameters of muscle fat, muscle performance or function, or limb performance or function. A method comprising the following steps: (i) determining the level of CD4+CD49d+ T cells in a blood sample from the subject; (ii) administering a course of antisense oligonucleotide and repeating step (i) at least once towards the end of the dosing period; (iii) within one week of dose completion repeat step (i); (iv) processing the results to determine whether the subject has or has not displayed a post-dose completion rebound, stability or loss in the level of CD4+CD49d+ T cells.

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WO/2020/223296
TREATMENT OF AMYOTROPHIC LATERAL SCLEROSIS AND DISORDERS ASSOCIATED WITH THE SPINAL CORD
05.11.2020
PCT/US2020/030393 / VOYAGER THERAPEUTICS, INC.
The present disclosure relates to AAVs encoding a SOD1 targeting polynucleotide which may be used to treat amyotrophic lateral sclerosis (ALS) and delivery methods for the treatment of spinal cord related disorders including ALS.

WO/2020/222182
TREATMENT FOR SOD1 ASSOCIATED DISEASE
05.11.2020
PCT/IB2020/054126 / BLACK SWAN PHARMACEUTICALS, INC.
The present invention relates to antisense oligonucleotides that are complimentary to SOD1, leading to decreased expression of SOD1. Reduced expression of SOD1 is beneficial in medical disorders such as Amyotrophic Lateral Sclerosis.

WO/2020/221937
IMMUNOGEN FOR PREVENTING OR TREATING FAMILIAL FRONTOTEMPORAL DEMENTIA (FTD) AND/OR AMYOTROPHIC LATERAL SCLEROSIS (ALS)
05.11.2020
PCT/EP2020/062343/ DEUTSCHES ZENTRUM FÜR NEURODEGENERATIVE ERKRANKUNGEN E.V. (DZNE)
The present invention relates to an immunogen for use in preventing or treating familial frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and/or amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) in patients with C9orf72 repeat expansion. The immunogen is comprising or consisting of a polypeptide consisting of dipeptide-repeats with a sequence selected from the group consisting of (Gly-Ala)a, (Gly-Pro)a, (Gly-Arg)a, (Pro-Ala)a and (Pro-Arg)a, wherein a is an integer of 4 to 25.

WO/2020/221309
OLIGOMERIC NUCLEIC ACID MOLECULE, AND APPLICATION THEREOF IN ACUTE INTERMITTENT PORPHYRIA TREATMENT
05.11.2020
PCT/CN2020/087844 / RACTIGEN THERAPEUTICS
Provided is a small activating nucleic acid molecule which increases HMBS gene expression, and an application thereof. The small activating nucleic acid molecule is a double-stranded or single-stranded RNA molecule targeting the HMBS gene promoter region, and includes first and second nucleic acid strands respectively containing complementary regions capable of forming a double-stranded nucleic acid structure. The double-stranded nucleic acid structure may promote HMBS gene expression in cells by means of, for example, an RNA activation mechanism. The length of the first or second nucleic acid strand is respectively 16-35 nucleotides, the first strand has at least 75% identity or complementarity with the target of the selected target gene promoter region, the other strand has at least 75% complementarity with the first strand, and the 3′-ends of the two oligonucleotide strands may have an overhang of 0-6 nucleotides. The small activating nucleic acid molecule can upregulate HMBS gene mRNA and protein expression in cells, and promote enzyme activity.