20240016894. METHODS AND MATERIALS FOR AMELIORATING CREATINE DEFICIENCY DISORDERS simplified abstract (The Regents of the University of California)
METHODS AND MATERIALS FOR AMELIORATING CREATINE DEFICIENCY DISORDERS
Organization Name
The Regents of the University of California
Inventor(s)
Gerald Lipshutz of Los Angeles CA (US)
METHODS AND MATERIALS FOR AMELIORATING CREATINE DEFICIENCY DISORDERS - A simplified explanation of the abstract
This abstract first appeared for US patent application 20240016894 titled 'METHODS AND MATERIALS FOR AMELIORATING CREATINE DEFICIENCY DISORDERS
Simplified Explanation
The invention disclosed in this patent application relates to methods and materials used in gene therapy for the treatment of creatine deficiency disorders. Creatine deficiency disorders are genetic disorders that affect the metabolism of creatine, an important molecule for energy regulation in the body. One specific disorder, guanidinoacetate N-methyltransferase (GAMT) deficiency, is characterized by symptoms such as autism, self-mutilation, intellectual disability, seizures, and movement disorders. Failure to thrive can also be a component of this disorder.
The patent application describes a gene therapy approach that can lead to long-term normalization of guanidinoacetate N-methyltransferase (GAMT) levels and increased creatine levels in individuals with GAMT deficiency. This approach also resolves the behavioral symptoms associated with the disorder in a mouse model. These findings have significant implications for the development of a new therapy for this creatine metabolism abnormality.
- Gene therapy methods and materials for treating creatine deficiency disorders
- Specifically addresses guanidinoacetate N-methyltransferase (GAMT) deficiency
- Clinical characteristics of GAMT deficiency include autism, self-mutilation, intellectual disability, seizures, and movement disorders
- Failure to thrive can also be a component of GAMT deficiency
- Gene therapy approach results in long-term normalization of GAMT levels and increased creatine levels
- Resolves the behavioral symptoms associated with GAMT deficiency in a mouse model
Potential Applications
- Treatment of guanidinoacetate N-methyltransferase (GAMT) deficiency and other creatine deficiency disorders
- Improvement of behavioral symptoms associated with GAMT deficiency
Problems Solved
- Lack of effective treatment options for creatine deficiency disorders
- Inability to address the behavioral symptoms associated with GAMT deficiency
Benefits
- Long-term normalization of GAMT levels and increased creatine levels
- Resolution of behavioral symptoms in GAMT deficiency
- Potential for improved quality of life for individuals with creatine deficiency disorders
Original Abstract Submitted
the invention disclosed herein provides methods and materials useful in gene therapy regimens designed to treat creatine deficiency disorders. creatine deficiency disorders are inborn errors of creatine metabolism, an energy homeostasis molecule. one of these, guanidinoacetate n-methyltransferase (gamt) deficiency, has clinical characteristics that include features of autism, self-mutilation, intellectual disability and seizures with approximately 40% having a disorder of movement; failure to thrive can also be a component. as disclosed herein, a gene therapy approach can result in long-term normalization of gaa with increased creatine in guanidinoacetate n-methyltransferase deficiency and at the same time resolves the behavioral phenotype in a murine model of the disorder. these findings have important implications for the development of a new therapy for this abnormality of creatine metabolism.
