Technology ID
TAB-3612
High Concentration Methylcobalamin (Me-Cbl) or Combination of Methyl- and Hydroxocobalamin (Me/OH-Cbl) for the Treatment of Cobalamin C Deficiency and Related Disorders
E-Numbers
E-147-2020-0
Lead Inventor
Venditti, Charles (National Human Genome Research Institute (NIH/NHGRI))
Co-Inventors
Sloan, Jennifer (National Human Genome Research Institute (NIH/NHGRI))
Manoli, Eirini (Irini) (National Human Genome Research Institute (NIH/NHGRI))
Applications
Therapeutics
Therapeutic Areas
Ophthalmology
Oncology
Infectious Disease
Endocrinology
Dental
Cardiology
Lead IC
NHGRI
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 with traditional hydroxocobalamin formulations and doses. The scientist have also developed a novel combination of hydroxo- and methylcobalamin, having superior performance to traditional hydroxocobalamin only treatment. The immediate use of the results and models are to enable the formulation and testing of new cobalamin preparations (injectables) for the treatment of a large group of inborn errors of metabolism, neurological, ocular and vascular disorders.
Commercial Applications
- Enable the formulation and testing of new cobalamin preparations (injectables) for the treatment of a large group of inborn errors of metabolism, neurological, ocular and vascular disorders.
- Used to treat primary or secondary vitamin B12 deficiency, nutritional conditions, hyperhomocysteinemia, thrombotic microangiopathies, and possibly behavioral conditions
Competitive Advantages
This technology enables the use of new doses and formulations of cobalamin (vitamin B12) for diseases with limited treatment options.
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