Current Research

Research: Citrin Deficiency

Research projects that have been funded.

Highlights of some of the research projects that the Foundation has funded so far:

  1. Test if any amino acid compounds can provide an effective treatment for patients in different stages of the condition.
    - Lead investigator:Prof Takeyori Saheki 
     
  2. ​To understand the cause of ASS decline in CTLN2 patients despite their ASS genes being intact.
    - Lead investigator:Prof Takeyori Saheki
     
  3. To understand why lactose is harmful to NICCD patients but beneficial to patients post-NICCD.
    - Lead investigator:Prof Takeyori Saheki
     
  4. To understand why there is a silent period post-NICCD.
    -  Lead investigator:Prof Takeyori Saheki
     
  5. Develop a standardized patient management protocol for doctors around the world to refer to.
    -  Project leader: Dr Yoshiyuki Okano
     
  6. Develop detail diet management suggestions by doing detail patient surveys.
    -  Project leader: Dr Yoshiyuki Okano
     
  7. Conduct natural history studies on post-NICCD and CTLN2 patients so as to elucidate what are the factors that contribute to the onset of CTLN2.
    -  Lead investigators: Dr Yoshiyuki Okano and Prof Masahide Yazaki
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Citrin Foundation

Citrin Foundation, set up in 2016 to tackle citrin deficiency, aims to provide end-to-end support to all citrin deficiency patients, from funding research that drives effective treatments and eventually cure, and provide support to patients and families. We are a patient-driven, not-for profit organization.

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Register with us so you will receive notifications such as announcements on scientific breakthroughs in our research, launch of clinical trials or any important updates for patients and doctors.