Featured Research: New Vitamin B12 Injectables Available for Licensing or Collaboration

Cobalamin C deficiency (cblC), caused by mutations in the MMACHC gene, is the most common inborn error of intracellular vitamin B12 metabolism. Inventors at the National Human Genome Research Institute (NHGRI) have developed a novel combination of hydroxo- and methylcobalamin, which has shown superior performance compared to traditional hydroxocobalamin only treatment. This technology enables the use of new doses and formulations of cobalamin (vitamin B12) for diseases with limited treatment options. NHGRI has generated MMACHC knockout mouse models. The clbC mice have enabled proof of concept testing with traditional hydroxocobalamin formulations and doses.

NHGRI is searching for a licensee or collaboration partner to use these results and models to formulate and test new cobalamin preparations (injectables) for the treatment of a large group of inborn errors of metabolism, neurological, ocular, and vascular disorders. This technology could also be used to treat primary or secondary vitamin B12 deficiency, nutritional conditions, hyperhomocysteinemia, thrombotic microangiopathies, and possibly behavioral conditions.

Further information and a licensing contact can be found on the abstract: High Concentration Methylcobalamin or Combination of Methyl- and Hydroxocobalamin for the Treatment of Cobalamin C Deficiency and Related Disorders.