30 results about "Homocystinuria" patented technology

Pharmaceutical uses of glycine betaine, such as for the treatment of thromboses not induced by hyperhomocystenemia or homocystinuria, of blood disorders, such as blood coagulation, thrombi formation.

The present invention provides pharmaceutical uses of betaines, and especially glycine betaine, such as for the treatment of thromboses not induced by hyperhomocystenemia or homocystinuria, of blood disorders, such as blood coagulation and thrombi formation.

The invention relates to a novel choline cocrystal of 5-[(lZ.2E)-2-methyl-3-phenylpropenylidene]-4-oxo-2-thioxo-3-thiazolidineacetic acid. The preparation and characterization of the novel choline cocrystal according to various embodiments of the invention is described. The invention also relates to pharmaceutical compositions containing the novel choline cocrystal and the therapeutic use of the novel choline cocrystal to treat and / or prevent various conditions, including treating and / or preventing diabetic complications, treating and / or preventing homocystinuria reducing levels of homocysteine in blood serum, inhibiting aldose reductase, and affording cardioprotection in non-diabetic patients.

The invention provides reagents and methods for enzyme replacement therapy using chemically modified species of human cystathionine β-synthase (CBS) to treat homocystinuria and other related diseases and disorders.

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.

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.

Disclosed is a method for preparing a composition enriched for receptors (typically molecular impringet polymers, MIPs) that bind an agent, where said receptors each specifically bind at least two discrete sites on said agent, by subjecting a sample of receptors to a first step of affinity purification with the agent where one binding site on the agent is non-accessible for binding to the receptors and subsequently subjecting the purified receptors to at least one further step of affinity purification with the agent where a second binding site on the agent is non-accessible. Also disclosed is a method for treatment, amelioration or prophylaxis of a disease selected from the group consisting of phenylketonuria (PKU, Følling's disease), hyperphenylalaninemia (HPA), alcaptonuria (black urine disease), tyrosinemia, hypertyrosinemia, myasthenia gravis, histidinemia, urocanic aciduria, maple syrup urine disease (MSUD), isovaleric acidemia (isovaleryl-CoA dehydrogenase deficiency), homocystinuria, propionic acidemia, methylmalonic acidemia, and glutaric aciduria Type 1 (GA-I), galactosemia, comprising administering to the gastrointestinal tract of a patient in need thereof an effective amount of a composition of molecular imprinted polymers (MIPs), said composition being capable of binding a symptom provoking agent of said disease.

The invention relates to a novel choline cocrystal of 5-[(1Z,2E)-2-methyl-3-phenylpropenylidene]-4-oxo-2-thioxo-3-thiazolidineacetic acid. The preparation and characterization of the novel choline cocrystal according to various embodiments of the invention is described. The invention also relates to pharmaceutical compositions containing the novel choline cocrystal and the therapeutic use of the novel choline cocrystal to treat and / or prevent various conditions, including treating and / or preventing diabetic complications, treating and / or preventing homocystinuria reducing levels of homocysteine in blood serum, inhibiting aldose reductase, and affording cardioprotection in non-diabetic patients.

The present invention provides pharmaceutical uses of betaines, and especially glycine betaine, such as for the treatment of thromboses not induced by hyperhomocystenemia or homocystinuria, of blood disorders, such as blood coagulation and thrombi formation.

The present invention provides a method of PEGylating a human truncated cystathionine β-synthase protein containing a mutation of a cysteine to a serine at amino acid position 15 (htCBS C15S). The htCBS C15S was PEGylated with one of 5 kDa, 10 kDa, or 20 kDa NHS ester PEG molecules. In-process monitoring of the PEGylation process was used in the method to reduce levels of unPEGylated htCBS C15S and htCBS C15S with insufficient PEGylation. Administration of the PEGylated htCBS C15S had efficacy throughout the course of treatment for homocystinuria.

The invention relates to a liquid or gelled pasteurized or sterilized composition comprising free amino acids, calcium, a digestible carbohydrate, and preferably an indigestible carbohydrate, wherein the free amino acids are present in a concentration between 5 and 30g / 100ml, and the dry weight of the total composition is at least 40g / 100ml, and preferably lower than 60 g / 100ml. The composition may in particular be used in the treatment of a human suffering from a disorder selected from the group consisting of phenylketonuria, homocystinuria, maple syrup urine disease, tyrosinaemia, propionic acidaemia, methylmalonic acidaemia, isovaleric acidaemia, urea cycle disorders and glutaric aciduria.

The present disclosure provides a formulation of a drug comprising a PEGylated CBS protein having the amino acid sequence of SEQ ID NO: 1. Doses and dosing regimens for treating homocystinuria in a subject in need thereof are provided. In addition, doses and dosing regimens for reducing homocysteine (Hcy) levels or increasing cysteine (Cys) and / or cystathionine (Cth) levels in a subject in need thereof are also provided.

Provided are 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 uses of and methods of treatment with cystathionine. In one embodiment, cystathionine reduces the development of toxin-induced liver and / or kidney disease induced by homocystinuria and / or acute nephropathy. In one embodiment, a cystathionine synthesis inhibitor is administered to increase tumor cell apoptosis and / or increase the efficacy of chemotherapeutic treatment. More particularly, cystathionine can protect cells against toxin-induced cellular apoptosis and / or cystathionine synthesis inhibitors can increase neuroblastoma cell kill rates during chemotherapy.

Methods and compositions relating to the engineering of an improved protein with homocyst(e)inase enzyme activity are described. For example, there are disclosed modified cystathionine-γ-lyase (CGL) enzymes comprising one or more amino acid substitutions and capable of degrading homocyst(e)ine. Furthermore, provided are compositions and methods for the treatment of homocystinuria or hyperhomocysteinemia with homocyst(e)ine depletion using the disclosed enzymes or nucleic acids.