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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: 7/25/2024 | 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

Cyclodextrins as Therapeutics for Lysosomal Storage Disorders

Cyclodextrins (CD), alone or in combination with other agents (e.g., vitamin E), as therapeutics for the treatment of lysosomal storage disorders (LSDs) caused by the accumulation of non-cholesterol lipids. CDs are sugar molecules in a ring form. The alpha-CD (6 sugars), beta-CD (7 sugars) and gamma-CD (8 sugars) are commonly used cyclodextrins. The...

Published: 7/25/2024 | Inventor(s): Wei Zheng, Miao Xu, Manju Swaroop, Juan Marugan, John McKew

Keywords(s): Combination, CYCLODEXTRIN, DISEASES, e, IB6XXX, IBXXXX, IXXXXX, Lysosomal, NB1JXX, NB1XXX, NBXXXX, NXXXXX, Storage, treatment, UA1XXX, USES, Vitamin

Category(s): Collaboration Sought > Collaboration, Application > Research Materials, Application > Diagnostics, Application > Vaccines, TherapeuticArea > Rare / Neglected Diseases, Application > Therapeutics, TherapeuticArea > Neurology, TherapeuticArea > Reproductive Health