9 results about "Homocystinuria" patented technology

This description provides formulations for a pharmaceutical product comprising a PEGylated CBS protein having the amino acid sequence SEQ ID NO: 1. Dosages and dosage regimens are provided for the treatment of homocystinuria in a subject in need. In addition, dosages and dosage regimens are also provided for reducing homocysteine ​​(Hcy) levels or increasing cysteine ​​(Cys) and / or cystathionine (Cth) levels in a subject in need.

Methods and compositions relating to the engineering of modified proteins having homocysteine ​​activity are described. For example, a modified cystathionine-γ-lyase (CGL) comprising one or more amino acid substitutions and capable of degrading homocysteine ​​is disclosed. Furthermore, compositions and methods for treating homocysteine ​​depletion or hyperhomocysteinemia using the disclosed enzymes or nucleic acids are provided.

To provide a drug substance for enzyme therapies to treat homocystinuria with higher efficacy and fewer negative effects on the patients than the present therapies.SOLUTION: Provided herein is a drug substance comprising: (a) an isolated cystathionine β synthase (CBS) protein comprising a specific amino acid sequence; and (b) a PEG molecule covalently bonded to the CBS protein.SELECTED DRAWING: None

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 cystathionine beta-synthases for use in the treatment of homocystinuria. The present invention provides agents and methods for enzyme replacement therapy using human cystathionine beta-synthase (CBS), homologs, variants, or mutants thereof to treat homocystinuria and other related diseases and disorders.

The purpose of the present invention is to provide a novel B0AT1 inhibitor. The present invention pertains to a compound represented by formula (I) (in the formula, each symbol is as defined in the description) having a B0AT1 inhibitory effect, or a salt thereof. In addition. The invention relates to a B0AT1 inhibitor containing the compound and a pharmaceutical composition containing the compound. One embodiment of the present invention is, for example, a drug suitable for the prevention and / or treatment of disorders of amino acid metabolism such as phenylketonuria, urea cycle disorder, hypertyrosinemia (type I-III), hypermethionine, maple sugar urine, homocystinuria, non-ketoneal hyperglycinemia, propionemia, methylmalonemia, and isovaleraemia, and is a drug suitable for the prevention and / or treatment of disorders of amino acid metabolism such as phenylketonuria, urea cycle disorder, hypertyrosinemia (type I-III), hypermethionine, maple sugar urine, homocystinuria, non-ketoneal hyperglycinemia.

The present disclosure provides formulations for a drug product comprising a PEGylated CBS protein having the amino acid sequence of SEQ ID NO: 1. Dosages and dosing regimens are provided for treatment of homocystinuria in a subject in need thereof. Additionally, the dosages and dosing regimens are also provided to reduce the level of homocysteine (Hcy) or increase the levels of cysteine (Cys) and / or cystathionine (Cth) in a subject in need thereof.

Embodiments of the instant disclosure relate to novel compositions and methods for treating a subject having homocystinuria. In some embodiments, compositions and methods disclosed herein concern improving efficacy of betaine to reduce dietary compliance requirements and improve outcomes. In accordance with these embodiments, a subject having or suspected of developing homocystinuria can be treated with formate, a salt thereof, a formate derivative or formate precursor or prodrug agent alone or in combination with trimethylglycine or other HCU treatments. In other embodiments, a subject having or suspected of developing homocystinuria can be treated with zinc and / or trimethylglycine and / or formate derivative to treat homocystinuria in the subject. In other embodiments, a subject having or suspected of developing Nonketotic hyperglycinemia (NKH) can be treated with formate, a salt thereof, a formate derivative, or formate precursor or prodrug agent to treat NKH in the subject.

Embodiments of the instant disclosure relate to novel compositions and methods for treating a subject having homocystinuria. In some embodiments, compositions and methods disclosed herein concern improving efficacy of betaine to reduce dietary compliance requirements and improve outcomes. In accordance with these embodiments, a subject having or suspected of developing homocystinuria can be treated with formate, a salt thereof, a formate derivative or formate precursor or prodrug agent alone or in combination with trimethylglycine or other HCU treatments. In other embodiments, a subject having or suspected of developing homocystinuria can be treated with zinc and / or trimethylglycine and / or formate derivative to treat homocystinuria in the subject. In other embodiments, a subject having or suspected of developing Nonketotic hyperglycinemia (NKH) can be treated with formate, a salt thereof, a formate derivative, or formate precursor or prodrug agent to treat NKH in the subject.