HOME
SEARCH
RSS FEED
SUBSCRIBE
High Concentration Methylcobalamin (Me-Cbl) or Combination of Methyl- and Hydroxocobalamin (Me/OH-Cbl) for the Treatment of Cobalamin C Deficiency and Related Disorders
Case ID:
TAB-3612
Web Published:
12/6/2022
Description:
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.
Patent Information:
Title
App Type
Country
Serial No.
Patent No.
File Date
Issued Date
Expire Date
Patent Status
Direct Link:
https://nih.technologypublisher.com/tech?title=High_Concentration_Methylcobal amin_(Me-Cbl)_or_Combination_of_Methyl-_and_Hydroxocobalamin_(Me%2fOH-Cbl)_f or_the_Treatment_of_Cobalamin_C_Deficiency_and_Related_Disorders
Category(s):
Therapeutics
Cardiology
Infectious Disease
Ophthalmology
Oncology
Endocrinology
Dental
Bookmark this page
Download as PDF
For Information, Contact:
Eggerton Campbell
Licensing And Patenting Manager
NIH Technology Transfer
301-402-1648
eggerton.campbell@nih.gov
Inventors:
Jennifer Sloan
Eirini (Irini) Manoli
Charles Venditti
Keywords:
C
Cobalamin
Combination
Concentration
DEFICIENCY
DISORDERS
High
Hydroxocobalamin
Me/OH-Cbl
Me-Cbl
Methyl-
Methylcobalamin
RELATED
treatment
VPXXXX
WKXXXX
Home
|
Search
|
RSS
|
Subscribe
© 2024. All Rights Reserved. Powered by
Inteum