We are pleased to announce a publication titled “The therapeutic landscape of citrin deficiency”. This paper was a joint effort by Dr. Toni Vuković, Professor Johannes Häberle, and the Citrin Foundation Team. The paper was published in the Journal of Inherited Metabolic Disease and is available for viewing here: Journal of Inherited Metabolic Diseases| The therapeutic landscape of citrin deficiency.
This paper provides the first comprehensive literature review of the efficacy and limitations of the current treatment options for CD and discusses potential novel therapies. Notably, this paper includes an in-depth review of the efficacy of medium-chain triglycerides (MCTs), the most widely used supplement for CD, in treating different phenotypes across multiple studies.
Citrin Foundation would like to express our deep gratitude to Professor Johannes Häberle for his leadership from the inception to the final publication of this paper.
This publication closely follows another paper titled “Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition“. Both papers were supported in part by the Citrin Foundation. They are highly complementary and will be published back-to-back in a planned special issue of JIMD.
The Foundation continues to fund research projects to better understand citrin deficiency and ultimately find a cure for this condition. We have thus far earmarked US$30 million for research on citrin deficiency are currently offering generous research grants to study the condition. You may find out more about our Funding Opportunities here: https://citrinfoundation.org/research/funding-opportunities/.
We value any feedback or ideas you might have, so please do not hesitate to contact us at info@citrinfoundation.org
