We are very pleased to announce the first publication of a major breakthrough in the scientific research led by Professor Takeyori Saheki and sponsored by the Citrin Foundation. The paper, titled “Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model”, has been recently published on Nature’s Scientific Reports, and is available for viewing here: https://www.nature.com/articles/s41598-019-39627-y
This paper details the efficacy of L-Aspartate L-Ornithine (LOLA) in normalizing the high ammonia and citrulline levels in the double-knockout mouse model. We believe that this is an important discovery that could play a potentially critical role in the treatment of citrin deficiency. To further this discovery, a clinical study will be held in Japan and led by Professor Masahide Yazaki to test the efficacy of LOLA on CTLN2 patients. The study has been approved by the relevant authorities and will commence soon. The Citrin Foundation is the sponsor of this study. We hope that LOLA could prove to be an effective treatment for citrin deficiency in the future.
We feel very fortunate that in the short 2 years since the establishment of Citrin Foundation, much progress has been made. It would not have been possible without the unwavering support of many researchers, physicians, patients, friends and partners, like yourself. Much still needs to be done, but we are determined to keep pushing forward.
We value any feedback or idea you might have, so please do not hesitate to contact us at info@citrinfoundation.org.
(Updated March 2019)
