Our Objectives

Citrin Foundation: Our Objectives
  1. To prevent the onset of CTLN2 for all the citrin deficiency patients. We hope to gain a better understanding of the basic medical science, clinical manifestations, relationship between genotype and phenotype of this condition and diet preferences of the patients, with the hope of finding a way to effectively manage the condition and to ultimately find a cure for it.  In particular, we would like to find out from a basic science perspective, what problems are caused by citrin  deficiency in the metabolic system at different stages, whether there are compensatory pathways and their mechanisms, what causes the onset of CTLN2, how to prevent it and whether diet or other supplements will provide effective  treatments of the condition.​
  2. To collaborate with leading medical institutes, biotech and pharmaceutical companies to develop novel treatments for citrin deficiency.
  3. ​To provide lifelong support to patients, by offering means to facilitate interactions among patients, between patients and doctors, and to promote sharing of the latest information about the condition, as well as providing advice on diet and other relevant recommendations on disease management.
  4.  ​To build a global patient registry that allows us to gather relevant information to facilitate better care and deliver medical insights.
  5.  To raise awareness of the condition among relevant doctors around the world so that they can have the most up-to-date information about this condition in order to facilitate better diagnosis and disease management.
  6.  To build a global consortium of physicians and researchers to establish consensus on diagnostic, monitoring and treatment protocols, and to encourage sharing of clinical data and the latest scientific findings for better disease managements.

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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