International Rare Disease Patent Applications Published in January 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/2021/005176
TREATMENT OF GLYCOGEN STORAGE DISEASE (GSD)
14.01.2021
PCT/EP2020/069432 / GENETHON

Pharmacological chaperones or a pharmaceutically acceptable salt thereof and (ii) a therapeutic acid-alpha glucosidase (GAA) polypeptide or a nucleic acid molecule encoding a therapeutic GAA polypeptide, wherein said pharmacological chaperones are 1-deoxynojirimycin (DNJ) or a derivative thereof and ambroxol (ABX) or a derivative thereof.

WO/2021/007378
COMPOUNDS FOR USE IN TREATING HUNTINGTON’S DISEASE
14.01.2021
PCT/US2020/041300 / PTC THERAPEUTICS, INC.

Acompound of Formula (I) or a form or composition thereof for treating or ameliorating Huntington’s Disease (HD) in a subject in need thereof comprising, administering to the subject an effective amount of the compound of Formula (I): wherein A, B, X, Y, R1 and R2 are as defined herein, or a form or composition thereof. The present description further relates to the use of a monocyclic aromatic amido substituted compound of Formula (I) or a form or composition thereof for treating or ameliorating HD in a subject in need thereof comprising, administering to the subject an effective amount of the compound of Formula (I) or a form or composition thereof.

WO/2021/009336
METHODS FOR INDUCING FULL ABLATION OF HEMATOPOIESIS
21.01.2021
PCT/EP2020/070244 / INSERM

The inventors have identified an autosomal dominant (AD) missense mutation in the RAC2 gene (coding for Ras-related C3 botulinum toxin substrate 2 (RAC2)) in three Severe combined immunodeficiencies (SCID) patients whose clinical presentation overlaps with the RD SCID form but who lack AK2 mutations and deafness. Using biochemical and in vitro differentiation assays, the inventors demonstrated that the RAC2 mutation was closely related to an impairment in cell differentiation capacity and defects in cellular and mitochondrial networks. Taken as a whole, the data demonstrate that a dominant gain-of-function (GOF) mutation in the RAC2 protein’s GDP/GTP binding site inhibits HSPC differentiation and leads to a severe AD form of SCID with a clinical presentation of RD. Accordingly, the results prompt to consider that introduction of the identified RAC2 mutein in the hematopoietic lineage would be suitable for inducing full ablation of hematopoiesis.

WO/2021/010898
TREATMENT/PREVENTION OF DISEASE BY LINC COMPLEX INHIBITION
21.01.2021
PCT/SG2020/050407 / AGENCY FOR SCIENCE, TECHNOLOGY AND RESEARCH

Methods for the treatment and prevention of laminopathies and diseases characterised by hyperlipidemia through LING complex inhibition are disclosed. In particular, LING complex disruption by expression of dominant-negative LING complex proteins alleviates pathophysiology in Lmna mutation-associated muscular dystrophy, progeria, and dilated cardiomyopathy. In addition, LING complex disruption by expression of dominant-negative LING complex proteins also alleviates pathophysiology in mouse models of atherosclerosis and familial hypercholesterolemia.

WO/2021/010937
METHODS AND COMPOSITIONS FOR THE TREATMENT OF SICKLE CELL DISEASES AND THALASSEMIA
21.01.2021
PCT/US2019/000033 / EMMAUS MEDICAL, INC.

Methods and compositions for the treatment of sickle cell diseases and thalassemia. The composition comprises: at least one gram of L-glutamine, an L-glutamine salt or an L-glutamine derivative; and, at least one gram of one type of fiber.

WO/2021/011327
COMPOUND FOR TREATING CYSTIC FIBROSIS
21.01.2021
PCT/US2020/041490 / ORPHOMED, INC.
A compound represented by Formula I: (I) or a pharmaceutically acceptable salt, hydrate, solvate or complex thereof. Also provided are pharmaceutical compositions comprising the compound noted above, in combination with a pharmaceutically acceptable excipient.

WO/2021/011466
USE OF NANOPARTICLES FOR TREATING RESPIRATORY INFECTIONS ASSOCIATED WITH CYSTIC FIBROSIS
21.01.2021
PCT/US2020/041796 / ATTOSTAT, INC.
Metal nanoparticle compositions and methods for treating respiratory infections associated with cystic fibrosis. An amount of nonionic, ground state metal nanoparticles are administered to a patient via inhalation. The metal nanoparticles have properties that enable effective transport through the viscous mucus layer to the epithelia and surrounding tissues, killing or deactivating infecting microbes at the targeted respiratory tissue and throughout the overlying mucus layer.

WO/2021/011841
COMPOSITIONS AND METHODS FOR THE TREATMENT OF SANFILIPPO DISEASE AND OTHER DISORDERS
21.01.2021
PCT/US2020/042447 / LYSOGENE

Novel vectors and methods useful in treating genetic diseases, brain disorders, and neurological diseases and disorders, including gene therapy vectors and methods of administering such to a subject in need thereof.

WO/2021/011929
USE OF FRATAXIN FOR TREATING LEIGH SYNDROME, FRENCH CANADIAN TYPE
21.01.2021
PCT/US2020/042683 / CHONDRIAL THERAPEUTICS, INC.
A method for treatment of a subject suffering from Leigh Syndrome French Canadian Type (LSFC), the method comprising administering to the subject a therapeutically effective amount of a frataxin (FXN) therapeutic compound.

WO/2021/011930
SLIRP FUSION PROTEINS AND USE THEREOF FOR TREATING LEIGH SYNDROME
21.01.2021
PCT/US2020/042685 / CHONDRIAL THERAPEUTICS, INC.
SLIRP therapeutic compounds, including fusion proteins comprising a SLIRP polypeptide and a cell penetrating peptide (CPP). Also provided are methods of using SLIRP therapeutic compounds, including a SLIRP fusion protein, for treating Leigh Syndrome, e.g., Leigh Syndrome, French Canadian type (LSFC).

WO/2021/013771
FERROPORTIN-INHIBITORS FOR THE USE IN THE TREATMENT OF TRANSFUSION-DEPENDENT BETA-THALASSEMIA (TDT)
28.01.2021
PCT/EP2020/070391 / VIFOR (INTERNATIONAL) AG
Use of ferroportin inhibitor compounds of the general formula (I) for treating transfusion-dependent β-thalassemia.

WO/2021/016032
METHODS OF TREATING OR PREVENTING SPINAL MUSCULAR ATROPHY
28.01.2021
PCT/US2020/042312 / BIOGEN MA INC.
Methods for the treatment or prevention of spinal muscular atrophy. Effective dosage regimens are specified. Biomarkers and kits are also provided.

WO/2021/016208
METHODS OF TREATING CONGENITAL ADRENAL HYPERPLASIA
28.01.2021
PCT/US2020/042820 / SPRUCE BIOSCIENCES, INC
Patients with congenital adrenal hyperplasia (CAH) need adequate care and treatment in order to lead normal lives. Hence, there is a need for new methods of treating CAH. This disclosure provides new compounds, salts, compositions and uses thereof in the treatment of CAH.

WO/2021/016314
ANAVEX2-73 FOR THE TREATMENT OF GENETIC NEURODEVELOPMENTAL DISORDERS
28.01.2021
PCT/US2020/043007 / ANAVEX LIFE SCIENCES CORP.
Methods for treating a genetic neurodevelopmental disorder such as Rett syndrome, comprising administering to a subject in need thereof a liquid oral dosage formulation comprising a therapeutically effective amount of ANAVEX2-73.

WO/2021/016554
CUPTSM FOR THE TREATMENT OF NEURODEGENERATIVE DISORDERS
28.01.2021
PCT/US2020/043479 / ALS THERAPY DEVELOPMENT INSTITUTE
Use of CuPTSM in methods and compositions for treating subjects with a neurodegenerative disease. Subjects with a neurodegenerative disease can have, e.g., amyotrophic lateral sclerosis (ALS).