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February 6, 2019
- Rare metabolic disorder causes severe cardiovascular, skeletal, neurologic, and ophthalmic consequences with no adequate treatments
- OT-58 is a novel, engineered enzyme has demonstrated reduction in homocysteine levels in preclinical models
- Ongoing natural history study to define progression of disease in patients suffering from homocystinuria
January 25, 2019
HCU Network America and HCU Network Australia today announced the first recipient of their CBS deficiency global grants program – awarding a research grant to the University of Colorado School of Medicine in Denver to explore a potential treatment for homocystinuria due to cystathionine beta-synthase (CBS) deficiency. The research, led by Professor Kenneth N. Maclean aims to investigate the potential usage of different metabolic strategies designed to increase the efficacy of betaine to treat CBS deficient homocystinuria (HCU). Dr. Maclean, is a professor of pediatrics at the University of Colorado School of Medicine, and has had a longstanding interest and involvement in homocystinuria research.
December 7, 2018
Orphan Technologies Presents Data Indicating that the Prevalence of Homocystinuria is Substantially Higher than Previously Estimated
- Data presented at ISPOR Europe 2018 demonstrates that the prevalence of homocystinuria (HCU) is greater than that of phenylketonuria (PKU)
- Study demonstrates that newborn screening fails to capture the vast majority of homocystinuria cases
October 10, 2018
Aeglea BioTherapeutics to Present New Interim Phase 1/2 Clinical Trial Data in Arginase 1 Deficiency at 2018 ASHG Annual Meeting
Positive Preclinical Efficacy Data on its AEB4104 Homocystinuria Therapeutic Program
July 30, 2018
Preclinical Efficacy Data of AEB4104 - a New Enzyme Approach - for the treatment of Homocystinuria