News & Events

May 13, 2022

HCU Network America, Organic Acidemia Association and CblC Onlus Announce First Collaborative CblC Research Grant

CblC Onlus, HCU Network America and the Organic Acidemia Association today announced the recipient of their first collaborative cobalamin research grant– awarding a research grant to the National Research Council’s Institute of Biophysics in Palermo, Italy to identify potential treatment for cobalamin C (cblC) deficiency. The research, led by Dr. Silvia Vilasi, aims to identify compounds that could potentially rescue MMACHC functional deficiency in cblC disease. Dr. Vilasi is a researcher at the Institute of Biophysics (IBF) in the National Research Council, and has had a longstanding interest and involvement in the study of structure-function relationship of proteins involved in human pathologies. More recently she focused her interest in homocystinuria research.

March 22, 2021

Obsessive-Compulsive Symptoms as a Manifestation of Homocystinuria

December 4, 2020

A Sisters Quest For A Cure:

Margie McGlynn, MBA '83 and BS '82, president of the Homocystinuria Network America, has endowed a professorship in the School of Pharmacy and Pharmaceutical Sciences to find holistic solutions for rare genetic diseases like the one that took the lives of two of her sisters in childhood.

October 25, 2019

Data from Orphan Technologies' prospective natural study in Classical Homocystinuria demonstrates that current treatments do not prevent severe disease outcomes

Orphan Technologies presented 3 Posters at SSIEM 2019 demonstrating:

  • Current standard of care does not adequately control homocysteine levels in patients with classical homocystinuria
  • Patients receiving care at centers of excellence still experience ocular deficits, inflammation, and metabolic and liver dysfunction
  • Many diagnosed and treated patients have severe cognitive impairment and increased skeletal fragility despite young age

Poster: Characteristics Of Patients Participating In A Study Of Homocystinuria Due To Cystathionine Beta-synthase Deficiency

April 9, 2019

Cure for an orphan disease?

First human clinical trial is latest CU Anschutz-led milestone on homocystinuria

February 6, 2019

Orphan Technologies Announces First Patients Treated in Phase 1/2 Trial of OT-58 in Homocystinuria

  • 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

First recipient of the CBS deficiency global grants program announced

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

Aeglea BioTherapeutics Announces Fall 2018 Medical Conference Schedule

Preclinical Efficacy Data of AEB4104 - a New Enzyme Approach - for the treatment of Homocystinuria