According to the principal investigator, Dr. Ken Maclean, "The regimen for the more severe form of HCU consists of a low protein diet combined with betaine treatment, and sticking to the low protein diet can be very challenging. The Maclean lab has been investigating a number of biochemical changes in HCU that appear to limit the ability of betaine to optimally lower homocysteine. Our goal was to understand those biochemical changes so that we might find a way to make betaine more effective and, if possible, reduce the need for the burdensome low-protein diet and medical foods that negatively impact the quality of life for individuals with HCU. In our mouse model of HCU, we found that if we combine betaine with the one-carbon molecule formate, a naturally occurring compound, we can achieve near-normal levels of homocysteine, even in the presence of a full-protein diet. This treatment is currently entering a phase 1 clinical trial in humans, and if successful, will represent a big step forward in treatment in HCU."

Dr. Maclean went on to say, “The new grant from HCU Network America is important because treatments that work in mice don't always work as well in humans. Consequently, while the human trial proceeds, we now want to see if combining the amino acid taurine with formate and betaine will bring additional benefits in terms of potentiating betaine treatment while augmenting the safety profile of our approach. We believe the successful completion of this project will shed new light on the pathogenic mechanisms involved in HCU and potentially represent a highly significant step towards improved treatment for this rare condition."

HCU Network America Board President Margie McGlynn said: "This project is focused on assessing the impact of 2 new potential therapies, formate and taurine, that could be combined with betaine to lower homocysteine levels. This combined treatment could potentially have a very beneficial effect on the clinical status and quality of life of classical HCU patients."