Search Results - deficiency

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Novel Adeno-associated Viral (AAV) Vectors to Treat Hereditary Methylmalonic Acidemia (MMA) Caused by Methylmalonyl-coA Mutase (MMUT) Deficiency
Deficiency of the enzyme in methylmalonyl-CoA mutase (MMUT) results is a life-threatening disease, methylmalonic acidemia (MMA), that carries high rates of morbidity and mortality. NHGRI scientists have developed novel AAV vectors that combine the proprietary codon-optimized synMMUT alleles with either a liver-specific promoter from the human alpha-1...
Published: 10/28/2024   |   Inventor(s): Randy Chandler, Charles Venditti
Keywords(s): AAV, Acidemia, Adeno-associated, CAUSED, DEFICIENCY, Hereditary, Methylmalonic, Methylmalonyl-CoA, MMA, Mmut, Mutase, Novel, TREAT, vectors, viral, VPXXXX, WIXXXX, WJXXXX, XEXXXX
Category(s): TherapeuticArea > Cardiology, Application > Therapeutics, TherapeuticArea > Infectious Disease, TherapeuticArea > Ophthalmology, TherapeuticArea > Dental, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, Application > Research Materials
High Concentration Methylcobalamin (Me-Cbl) or Combination of Methyl- and Hydroxocobalamin (Me/OH-Cbl) for the Treatment of Cobalamin C Deficiency and Related Disorders
Cobalamin C deficiency (cblC), caused by mutations in MMACHC, is the most common inborn error of intracellular vitamin B12 metabolism. NHGRI scientist have generated a number of Mmachc knockout mouse models. The cblC mice present with early lethality, recapitulate the neurological phenotype seen in patients, and have enabled proof of concept testing...
Published: 10/28/2024   |   Inventor(s): Jennifer Sloan, Eirini (Irini) Manoli, Charles Venditti
Keywords(s): C, Cobalamin, Combination, Concentration, DEFICIENCY, DISORDERS, High, Hydroxocobalamin, Me/OH-Cbl, Me-Cbl, Methyl-, Methylcobalamin, RELATED, treatment, VPXXXX, WKXXXX
Category(s): Application > Therapeutics, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, TherapeuticArea > Dental
Gene Therapy for Cobalamin C Deficiency (cblC) with Viable Mouse Models
Cobalamin C deficiency (cblC) is the most common inborn error of intracellular cobalamin metabolism and is caused by mutations in MMACHC, a gene responsible for processing and trafficking dependent enzymes: intracellular cobalamin, resulting in elevated methylmalonic acid and homocysteine and methionine deficiency. Disease manifestations include growth...
Published: 10/28/2024   |   Inventor(s): Jennifer Sloan, Charles Venditti
Keywords(s): C, cblC, Cobalamin, DEFICIENCY, Gene, THERAPY, VDXXXX, VEXXXX, VPXXXX, WIXXXX, WJXXXX, XEXXXX
Category(s): TherapeuticArea > Dental, TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Oncology, TherapeuticArea > Cardiology, TherapeuticArea > Ophthalmology, TherapeuticArea > Neurology, TherapeuticArea > Infectious Disease, Application > Research Materials
Modulating Autophagy as a Treatment for Lysosomal Storage Diseases
Researchers at NIAMS have developed a technology for treatment of lysosomal storage diseases by inhibition of autophagy. Pompe disease is an example of a genetic lysosomal storage disease caused by a reduction or absence of acid alpha-glucosidase (GAA). Patients with Pompe disease have a lysosomal buildup of glycogen in cardiac and skeletal muscle...
Published: 8/14/2024   |   Inventor(s): Cynthia Schreiner, Paul (Estate of) Plotz, Shoichi Takikita, Tao Xie, Rebecca Baum, Nina Raben
Keywords(s): Acid, A-glucosidase, Autophagy, B, Clearance, Complete, DEFICIENCY, Disabling, Disease, Enzyme, ERT, GB1XXX, GBXXXX, Genetic, GLYCOGEN, GXXXXX, IBXXXX, Inactivation, IXXXXX, Lysosomal, Model, Mouse, MUSCLE, Near, Patent Category - Biotechnology, Permits, Pompe, REPLACEMENT, SKELETAL, Storage, STORED, THERAPY, UA1XXX
Category(s): Collaboration Sought > Collaboration, Application > Therapeutics, TherapeuticArea > Rare / Neglected Diseases, Application > Diagnostics, Application > Research Materials
Methods for Treating or Ameliorating Fibrosis by Inhibiting the Interaction between IL-21 Receptor (IL-21R) and IL-21
This invention includes methods for treating or ameliorating fibrosis by inhibiting the interaction between IL-21 Receptor (IL-21R) and IL-21 using either anti-IL-21R monoclonal antibodies (or binding fragments of anti-IL-21R mAbs), anti-IL-21 monoclonal antibodies (or binding fragments of anti-IL-21 mAbs) or soluble IL-21R (or binding fragments of...
Published: 10/28/2024   |   Inventor(s): Thomas Wynn
Keywords(s): Asbestosis, CB1AXX, CB1XXX, CB6XXX, CBXXXX, CXXXXX, Cystic fibrosis, DEFICIENCY, FIBROSIS, Hepatitis A, Hepatitis D, Hepatitis E, IL-21, Immunity, Inflammmation, Patent Category - Biotechnology, RECEPTOR, REDUCES, SCHISTOSOMIASIS, Schistosomiasis (Schistosoma sp.), Scleroderma, Scleroderma, systemic, Tissue, TYPE-2
Category(s): Collaboration Sought > Licensing, TherapeuticArea > Immunology, TherapeuticArea > Oncology, Application > Therapeutics