Highlights of some of the research projects that the Citrin Foundation has funded thus far. It is listed according to the order of project commencement dates. You can click on the Principal Investigator’s name and each of the project’s research summary to learn more.

Principal Investigator Research summary
Professor Takeyori Saheki
  1. Test if any amino acid compounds can provide an effective treatment for patients in different stages of the condition.
  2. To understand the cause of ASS decline in CTLN2 patients despite their ASS genes being intact.
  3. To understand why lactose is harmful to NICCD patients but beneficial to patients post-NICCD.
  4. To understand why there is a silent period post-NICCD.
Dr. Yoshiyuki Okano
  1. Develop a standardized patient management protocol for doctors around the world to refer to.
  2. Develop detail diet management suggestions by doing detail patient surveys.
Professor Jorgina Satrústegui

Gene therapy for Citrin deficiency. A proof of principle.

Professor Edmund R.S. Kunji

Bioenergetic, metabolic and morphological consequences of citrin pathogenic variants on liver cells and tissue.

Dr. Kimihiko Oishi

Characterization of the hepatic pathophysiology of citrin deficiency.

Professor Paul M Yen

Assessment of amino acid, nutritional, cell signaling, and metabolomic changes in a hepatic model of citrin deficiency.

Professor Masahide Yazaki

Evaluation of therapeutic efficacy and safety of oral intake of LOLA (L-Ornithine L-Aspartate) for CTLN2 patients: A non-double blind pilot study

Dr. Ayano Inui

Natural history study consisting of 3 sub-studies.

Professor Ituro Inoue

Investigation of molecular mechanisms involved in citrullinemia type 2 (CTLN2) 

Professor Yukio Nagasaki           Development of NanoAA for Citrin Deficiency

All publications that have been supported by the Foundation can be found on the Publications page

Calling for Research Proposals

If you are a scientist or medical professional who is interested to study any aspects of citrin deficiency, please do not hesitate to contact us to discuss your idea or submit your proposal to us.  We will be willing to fund the research if it meets our criteria after careful evaluation by our scientific committee.

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