35 results about "Substitution therapy" patented technology

Variants of coagulation factor VIII (FVIII) and expression cassettes encoding the FVIII variants thereof are described. A variant FVIII includes a glycoepitope of the FVIII protein including an N2118Q mutation. The N2118Q mutation can be combined with other mutations including a BDD-FVIII, N6, V3, RH, furin-cleavage site deletion. X10, K12, and / or F309S mutation to form additional FVIII variants. The FVIII variants with the N2118Q mutation and expression cassettes thereof can result in reduced immunogenicity of the resulting protein. When combined with other FVIII mutations, higher gene expression, increased secretion, increased stability, and higher FVIII functional activity can be achieved by the expressed FVIII variants. The variant FVIII and expression cassettes described here can be useful in protein replacement therapy and / or gene therapy for the treatment of hemophilia A.

A method of treating male hypogonadism in a subject in need thereof includes administering to the subject testicular organoids generated from isolated male progenitor cells. The method can be used to slow or halt the progression of age-related diseases, and increase healthspan and longevity, in hypogonadal males. The method can be used with subjects that have not or are not receiving testosterone replacement therapy. The method does not require that the subject is pre-treated with CG. The testicular organoid includes cells expressing GFRA1, VEGF, VEGFR2, PDGF-Rα, Cyp11A1, 3β-HSD, 17β-HSD, LHCGR, α-SMA, CD11b, MHC CII, CD64, CD95, Sox9, AR, inhibin β-B, and FSHR.

The application relates to application of semaglutide in preparation of a medicine for treating or delaying ovarian aging, and through a natural aging mouse model, a cell aging model and transcriptome analysis, it is first proved that semaglutide can significantly increase the number of follicles and reduce the level of aging markers, and from a molecular level, it is revealed that the mechanism of realizing multi-target point delay of ovarian aging is that semaglutide realizes multi-target point delay of ovarian aging through regulating an adipocyte cytokine signal pathway, inhibiting excessive cell division and regulating an NF-kappa B signal pathway. As a marketed drug, semaglutide has clear safety, a long half-life and high patient compliance, and has a significant clinical conversion prospect. The application breaks through the limitation that existing hormone replacement therapy and assisted reproductive technology can only treat symptoms or solve the problem of fertility, provides a first drug intervention strategy which can fundamentally delay the process of follicle depletion, and fills the blank in the field of ovarian aging treatment.

The invention discloses a composite probiotic preparation capable of improving sensitivity of low-dose nicotine and reducing usage amount of nicotine, and belongs to the crossing field of microbial technology and biological medicine. The compound probiotic preparation only improves the sensitivity of mice to low-concentration nicotine, does not improve the preference of the mice to the existing preference concentration, prevents aggravated smoking addiction, enables individuals to reach the satisfaction of smoking at ordinary times under the condition of low dosage of nicotine, and has the advantages of being simple in preparation process, low in cost and the like. The formulations may be used in combination with products in nicotine replacement therapy or alone. The compound probiotic preparation disclosed by the invention can be used for preparing functional foods, health-care products and medicines capable of improving the sensitivity of the low-concentration nicotine, and has a very wide application prospect.

Various methods and compositions of treating 4-hydroxyphenylpyruvate dioxygenase-like (HPDL)-related diseases or disorders are presented herein. Also presented herein are methods of increasing CoQ10 biosynthesis, and methods of determining whether a subject will benefit from a CoQ10 or CoQ10 alternative treatment. Also presented herein are pharmaceutical compositions and dosage forms comprising 4-hydroxymandelic acid (4-HMA), and / or its metabolites. Further presented herein are compounds that inhibit 4-hydroxyphenylpyruvate dioxygenase-like (HPDL). Further presented herein are methods of identifying and / or assessing modulators of HPDL. Yet further presented herein are example methods and systems for isotopic labelling in cells by metabolizing cells in the presence of gaseous isotopic tracer.

The present disclosure features methods for treating neutralizing antibodies that reduce the efficacy of soluble alkaline phosphatase therapy (e.g., asfoenzyme alpha), which is an enzyme replacement therapy, such as for the treatment of bone mineralization disorders, e.g., hypophosphoesterase (HPP). The methods include diagnosing the subject for the presence of a neutralizing antibody that affects the efficacy of the treatment, administering a treatment suitable for reducing the deleterious effects of the neutralizing antibody, and continuing an alkaline phosphatase treatment.

The present invention relates to a pharmaceutical composition for preventing or treating Sanfilippo syndrome type A (MPS IIIA) comprising heparan N-sulfatase (HNS), and more particularly, to an optimal dose and period of administration of heparan N-sulfatase, which can effectively reduce the accumulation of heparan sulfate (HS) while improving the cognition of patients. According to the present invention, it can be used as enzyme replacement therapy (ERT) for treating Sanfilippo syndrome type A.

Disclosed herein are methods for the treatment of Pompe Disease comprising administering a recombinant AAV (rAAV) vector comprising a rAVV genome comprising a heterologous nucleic acid encoding an acid alpha-glucosidase (GAA) polypeptide operatively linked to a liver-specific promoter, wherein the subject is withdrawn or not administered enzyme replacement therapy (ERT).

The invention pertains to pharmaceutical formulations, particularly sustained-release nanoparticle injections of nomegestrol acetate. These formulations are designed as lyophilized powder, enhancing the solubility, bioavailability, and therapeutic efficacy of nomegestrol acetate for medical applications. These pharmaceutical formulations are intended for diseases responsive to nomegestrol treatment, such as hormone replacement therapy. The lyophilized powder formulation is easily reconstituted and administered, improving overall patient experience and treatment outcomes

Systems, methods and compositions are provided for the prophylaxis and / or treatment of autism spectrum disorder (ASD) (genetic, environmental and / or infection-induced) and other neuropsychological conditions by improving or correcting Aβ42 proteinopenia (low levels) and improving or restoring normal α7 nicotinic acetylcholine receptor signaling in patients. Therapeutic agents include Aβ polypeptide replacement therapy and neprilysin inhibitors.

Provided herein are improved compositions and methods for enzyme replacement therapy using modified human cystathionine beta synthase (CBS) in the treatment of homocystinuria and related diseases and disorders.

The present invention relates to fusion proteins comprising an enzyme replacement therapy enzyme, and provides fusion proteins comprising an enzyme replacement therapy enzyme and an Fc region, and methods of using such proteins to treat lysosomal storage disorders. Also provided herein are methods of delivering an agent across the blood-brain barrier.

Provided are dosing regimens for the treatment of Fabry disease in a patient. Certain methods relate to the treatment of ERT-experienced or ERT-naïve Fabry patients. Certain methods comprise administering to the patient about 123 mg free base equivalent of migalastat for improving left ventricular mass and / or improving podocyte globotriaosylceramide.

This document offers estrogen and progesterone replacement therapies. These include, among others, the following formulations: solubilized estradiol without progesterone; micronized progesterone without estradiol; micronized progesterone with partially solubilized progesterone; solubilized estradiol with micronized progesterone; solubilized estradiol with micronized progesterone in combination with partially solubilized progesterone; and solubilized estradiol with solubilized progesterone.

Proposed is a method for replacement therapy for damaged skin using polymeric collagen-laminin matrices which are histotypically similar to tissues of the body and contain biologically active agents in the form of cellular derivatives, namely collagens and laminins, which promote the structure-forming function of the damaged area. The subject of the invention is a new and effective method for producing such a matrix with a wound-healing effect, said method making it possible to reduce the toxic load and improve the final product yield, as well as improve the quality of the purification and rinsing of the collagen-laminin matrix. The collagen-laminin matrix produced using the method according to the invention is a safe and effective material for regenerative medicine (including for the healing of ulcers, burns, wounds and skin defects), and one which does not require frequent replacement throughout the healing period. It also holds promise for use in clinical practice for the treatment of surgical, traumatic or chronic wounds, as well as burns.

The present invention relates to a hormone replacement therapy, to the associated compounds and to the associated packaging units, for alleviating menopause-associated symptoms which is based on the administration to a female mammal of an estetrol component at specified daily doses, optionally in combination with a progestogenic component.The therapy enjoys a statistically significant efficacy combined with a favourable profile for side effects compared to currently available methods for alleviating menopause-associated symptoms.

The invention belongs to the technical field of biological medicines, and particularly relates to application of a kidney-tonifying and liver-nourishing compound preparation in preparation of a medicine for improving postmenopausal osteoporosis, and the kidney-tonifying and liver-nourishing compound preparation comprises the following components in parts by weight: 5-15 parts of roasted herba epimedii, 5-15 parts of fructus cnidii, 50-70 parts of roasted astragalus membranaceus and 10-30 parts of dogwood. Experiments show that the kidney-tonifying and liver-nourishing compound preparation can improve the problems of gap enlargement and structure looseness of bone tissue morphology and can inhibit bone loss, namely, the kidney-tonifying and liver-nourishing compound preparation has the effect of improving postmenopausal osteoporosis; compared with a traditional estrogen replacement therapy, the kidney-tonifying and liver-nourishing compound preparation has the advantages that the side effects are obviously reduced, the safety is improved, and a foundation is laid for developing safe and effective anti-osteoporosis medicines in the future.

Disclosed herein are methods, systems, and compositions for enhancing the effectiveness of β-cell (Beta-cell)-based therapies. Also disclosed herein are methods, systems, and compositions related to identifying, sorting and separating heterogeneous populations of stem cell-derived pancreatic β-cells (sBCs) into more useful and functionally homogeneous cell populations. In many embodiments, the most mature and functional of the sBCs are identified and live-sorted using the cell surface protein Ectonucleoside Triphosphate Diphosphohydrolase-3 (ENTP3), which is also referred to as CD39L3. The presently disclosed methods, systems, and compositions are useful for cell therapies, for example replacement therapy. In many embodiments the disclosed systems, methods, and compositions are useful in treatments for diabetes. In some embodiments, the disclosed methods, systems, and compositions may be useful in treating, preventing, and / or curing diabetes, for example type-1 diabetes.

Disclosed are mutations in the MEN1 gene of cancer cells that affect sensitivity of the cells to menin-inhibitory therapeutics. Also disclosed are diagnostic tests to detect the mutations. Diagnostic testing of cancer cells from a patient undergoing therapy with menin inhibitors can indicate that the therapy should be changed or stopped. Diagnostic of cells from a patient prior to treatment with a menin inhibitors can indicate an alternative therapy should be used.

The present disclosure provides a method for selecting hypogammaglobulinemia patients in need of immunoglobulin replacement therapy (IgG-RT) by analyzing the patient's B cell repertoire. The method can be used before treating the patient with IgG-RT. The method can also include treating the patient. Also provided herein is a diagnostic product in a computer-readable medium that provides information for patient selection. The B cell repertoire can be measured by the number or abundance of individual antibody clones, by calculating a diversity index value for antibody clones, by calculating the total frequency of the 10 to 30 most frequent antibody clones, by determining the frequency of variable region gene (V region) usage in antibody clones, by measuring the percent germline identity of V or J regions in the BCR repertoire by comparing them with corresponding germline sequences, and / or by determining the somatic mutation frequency in different regions along the V region.

Methods for generating midbrain dopamine (mDA) neuronal progenitor cells useful for autologous cell therapy in Parkinson's Disease, compositions comprising the cells, and methods of use thereof.

A high-activity blood coagulation factor XI mutant Ala570Thr (A570T), having nucleotide sequences as shown in SEQ ID NOs: 1-4 and an amino acid sequence as shown in SEQ ID NO: 5, is provided. The mutant is resistant to a physiological inhibitor thereof after being activated from a zymogen state to an active enzyme. Therefore, the mutant has a very high blood coagulation activity and a stronger catalytic ability for a non-physiological substrate; and the mutant is applied to the treatment of hemorrhagic diseases, and has good prospects in terms of gene therapy, gene editing and recombinant protein replacement treatments.

The present disclosure provides methods of screening, diagnosing, monitoring and / or treating acid sphingomyelinase (ASM) disorders such as Niemann-Pick disease. In particular, the methods encompass techniques for improved diagnosis and / or treatment of an ASM disorder, for example using enzyme replacement therapy.

The present disclosure provides methods and compositions for microglia replacement therapy in a subject in need thereof. In some cases, the method involves administering myeloid cells to the central nervous system of a subject. In some cases, the myeloid cells are derived from embryonic or extraembryonic tissue. In some cases, the myeloid cells are genetically modified. The genetic modification may include a colony stimulating factor 1 receptor (CSF1R) variant that is resistant to a CSF1R inhibitor, yet retains sensitivity to its ligand (e.g., CSF1, IL34).

Provided herein are peptide amphiphiles (PAs) and supramolecular PA nanostructures that mimic glial derived neurotrophic factor (GDNF), a growth factor that induces neuronal survival, maturation, and increased electrical activity. In particular, injectable biomaterials comprising GDNF mimetic PAs are provided, as well as methods of using GDNF mimetic PAs for the treatment or prevention of neurological injuries, diseases, and disorders, including concurrently with cell replacement therapy.

Disclosed are lung progenitor cells and methods of generating the lung progenitor cells starting from mammalian pluripotent stem cells. The lung progenitors can be used as therapeutic treatments for various pulmonary disorders or injuries. The lung progenitor cells may also be used to model lung diseases / conditions and screen for desired agents.

Provision of arimochromol for treating Gaucher disease. [Solution] The present invention relates to a pharmaceutical active ingredient selected from N-[2-hydroxy-3-(1-piperidinyl)-propoxy]-pyridine-1-oxide-3-carboxyimidoyl chloride, its stereoisomers, and its acid addition salts, and more particularly to alimochromol for use in methods of treating Gaucher disease (GD). This specification describes the results of a double-blind, randomized, placebo-controlled, phase 2 dose-finding study in patients with Gaucher disease (GD) types 1 and 3 who were not receiving enzyme and / or substrate replacement therapy.

The present disclosure provides methods and compositions for microglia replacement therapy in a subject in need thereof. In some cases, the method involves administering myeloid cells to the central nervous system of a subject. In some cases, the myeloid cells are derived from embryonic or extraembryonic tissue. In some cases, the myeloid cells are genetically modified. The genetic modification may include a colony stimulating factor 1 receptor (CSF1R) variant that is resistant to a CSF1R inhibitor, yet retains sensitivity to its ligand (e.g., CSF1, IL34).