Patient Registry

Patient Registry: Citrin Definciency

The Foundation is building an international patient registry for patients to register with us. By registering with us, you are not only helping yourself as a patient, you will be helping other patients as well.

Since our knowledge of this condition is still evolving and not a lot has been understood of this condition, the registry will enable us to distribute the most up to date information of this condition directly to the patients.  It will also allow the scientists to better understand the condition from its multiple facets, a prerequisite to develop any effective treatments and to prevent any sudden onset of worsening medical conditions for patients.

We hope to launch a number of features and applications to help patients in their daily lives. Some of the features under development are: ongoing diet management suggestions and feedback, new medical information update alert, interactive patient support group, a channel for patients to ask a panel of experts for the problems that they face or any questions that they have.

If you register with our patient registry, you would be able to get all these help at your fingertips when it is ready. Also, you will get a free electronic copy of Prof Saheki's book in English when it is ready if you register with our patient registry. Please see more details under the section: book about citrin deficiency. 

Please be rest assured that all the medical information that you provide under the registry will only be used and presented to anyone on anonymous basis. If you are interested to register as a patient when the registry is ready, please register your interest with us now.


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Please register with us so that you will receive notifications when we make announcements on scientific breakthroughs in our research, launch clinical trials or have any important updates for patients and doctors.

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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.