89 results about "Substitution therapy" patented technology

The disclosure provides methods for preparation of carbohydrate replacement therapies (CRT) that include nanocarriers of carbohydrates and glycolipids for pharmaceutical delivery to cell interior, endoplasmic reticulum, and Golgi for treating CDG type I and CDG type II diseases as well as other metabolic disorders.

Provided is a method for treating musculoskeletal atrophy in patients suffering from a neurological or neuromuscular disease or disorder by combining testosterone replacement therapy with neuromuscular electrical stimulation of multiple muscle groups and, optionally, physical activity.

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.

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 invention provides application of a flavin monooxygenase 3 inhibitor in preparation of a medicine for preventing and / or treating acute pancreatitis, and belongs to the technical field of medicines. The flavin monooxygenase 3 inhibitor is methimazole or a pharmaceutically acceptable salt, a prodrug or a derivative of methimazole. Experimental results show that after the methimazole is orally taken, the nidus area of animal pancreatitis is obviously reduced, the pathological score is obviously improved, the in-vivo inflammation level is obviously inhibited, and the blood amylase and lipase levels are obviously reduced; the levels of pancreatitis factors and chemotactic factors are reduced, and the oxidative stress index is reduced. In addition, by combining methimazole with the traditional Chinese medicine monomer for inhibiting the trimethylamine oxide level, the curative effect is better. Compared with the prior art, the application has the advantages that the core regulation effect of the trimethylamine oxide in the pathological process of the acute pancreatitis is disclosed for the first time, the limitation of the traditional anti-inflammatory or enzyme replacement therapy is broken through, and the acute pancreatitis is treated by inhibiting the trimethylamine oxide level by inhibiting the flavin monooxygenase 3.

The present invention relates to a pharmaceutical composition for CNS delivery of high-concentration heparan N-sulfatase (HNS) with improved stability, and a pharmaceutical dosage form containing the same. The pharmaceutical composition and pharmaceutical dosage form containing the same according to the present invention have excellent dosage form stability, such as reduced turbidity and significantly improved purity, and are therefore useful in enzyme replacement therapy (ERT) for the treatment of mucopolysaccharidosis type III.

The invention discloses a comprehensive climacteric woman health management system, and belongs to the technical field of health management. A comprehensive climacteric woman health management system comprises an information acquisition module, a health prediction module, a health guidance module and an information storage module. The problems that in the prior art, only the current health state of the climacteric woman can be evaluated, and hidden health problems and trends are difficult to find are solved, the information of the climacteric woman is stored by establishing the distributed storage area, the safety of long-term storage of the information of the climacteric woman is guaranteed, the resource utilization rate is optimized, and the user experience is improved. Potential risks of osteoporosis, hypertension, coronary heart disease and other diseases can be recognized, timely intervention is performed to delay or avoid disease development, the overall health level is improved, early psychological intervention is facilitated, common mood troubles in climacteric are relieved, the estrogen decline degree can be determined, a hormone replacement therapy scheme can be made in an assisted mode, and the development period of the disease is shortened. And the living quality of climacteric women is improved.

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).

Estrogen and progesterone replacement therapies are provided herein. Among others, the following formulations are provided herein: 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.

The present invention features new testosterone undecanoate (TU) dosing regimens, e.g., for testosterone replacement therapy. The TU may be formulated with phytosterols or phytosterol esters.

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

The present application relates to the technical field of biomedicine, in particular to a composition containing a megakaryocyte-derived vesicle, a preparation method therefor, and use thereof. The use is use of the composition containing the megakaryocyte-derived vesicle in the preparation of a drug for treating physiological hemostatic process disorders caused by various causes, wherein the composition is prepared by breaking down megakaryocytes into vesicles by means of extrusion. Provided in the embodiments of the present application are a composition containing a megakaryocyte-derived vesicle, a preparation method therefor, and novel use of the composition in the preparation of a drug for treating physiological hemostatic process disorders, thereby achieving a low-cost, safe, and effective platelet alternative therapy.

The present disclosure is based, at least in part, on the provision of a set of markers, also referred to herein as FXN-sensitivity gene marker (or FSGM), the expression level of each of which is positively or negatively correlated with the level of Frataxin (FXN) in a cell. Thus, these FSGMs can be used to determine, assess and / or monitor the efficacy of FXN replacement therapy in a subject.

The present invention relates to a subcutaneous implant for hormone replacement therapy, comprising a shell and a core. The shell wraps around the outside of the core and is columnar as a whole. The shell comprises estrogen and a biodegradable polymer, and the core comprises an estrogen receptor inhibitor and a biodegradable polymer. When implanted into the body, the estrogen in the shell starts to continuously and stably release a fixed amount of drug daily. As the drug in the shell dissolves and diffuses and the material degrades, the active drug in the core gradually and slowly releases after a certain period of drug administration, realizing sequential combined administration of two active substances in a single implant.

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.

The present invention relates to a subcutaneous implant for hormone replacement therapy, which comprises a shell and a core. The shell wraps around the outside of the core and has an overall columnar structure. The shell comprises an androgen and a biodegradable polymer, and the core comprises an enzyme inhibitor and a biodegradable polymer. The enzyme inhibitor comprises a 5-α reductase inhibitor and an aromatase inhibitor. When implanted into the body, the androgen in the shell continuously releases a fixed amount of drug stably every day. As the drug in the shell dissolves and diffuses and the material degrades, the active drug in the core gradually releases slowly after a certain period of drug administration, realizing sequential combined administration of two active substances in a single implant.

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 a high concentration heparan N-sulfatase (HNS) pharmaceutical composition with enhanced stability for CNS delivery and a pharmaceutical formulation comprising the same. The pharmaceutical composition and the pharmaceutical formulation comprising the same according to the present invention have excellent formulation stability, such as reduction of turbidity and significant improvement of purity, which can be used in enzyme replacement therapy (ERT) for the treatment of type III mucopolysaccharide storage disease.

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.

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

The present invention relates to the use of an alkaline phosphatase, in particular an improved alkaline phosphatase, such as RecAP, for preventing, treating, curing or ameliorating the symptoms of acute kidney injury on the basis of chronic kidney injury. The present application relates to alkaline phosphatase enzymes for use in methods of protecting renal function, shortening the duration of renal replacement therapy, maintaining creatinine clearance, and reducing the risk of death in a subject suffering from acute renal injury on the basis of chronic renal injury.