Citrin Foundation

At this year’s SSIEM meeting in Porto, the Citrin Foundation hosted a roundtable titled "Multi-Stakeholder Perspectives on the Development of Novel Therapies for Monogenic Metabolic Diseases." Moderated by Barbara Yu and Cary O. Harding, the event featured leading regulators Peter Marks, Director, Center for Biologics Evaluation and Research from the FDA, and Kristina Larsson Head of Office for Orphan Medicines from the EMA, along with patient advocates, researchers, and clinicians. Panellists discussed the challenges of translating preclinical findings into clinical trials for monogenic inherited metabolic diseases, focusing on the role of suitable biomarkers and clinical endpoints. Optimizing clinical trial designs suitable for different therapies such as whether there is the need for controls (especially for paediatric patients), and the benefits of early patient and regulator involvement in trial designs were also discussed. The panel ended with a positive note that progress is being made by the leading regulators on streamlining orphan drug approval processes and possible global collaboration in this regard. With over 100 attendees, the event was a great success, underscoring the importance of ongoing dialogue and collaboration among key stakeholders. We would like to extend our gratitude to the panellists for their valuable contributions. We hope this event marks a step forward in advancing treatment development for rare diseases.

At this year's SSIEM 2024 Annual Symposium, the Citrin Foundation is hosting and sponsoring a roundtable discussion, a unique event that will bring together regulators, researchers, clinicians and patient advocacy groups. The panel will address key challenges and discuss solutions in developing novel therapies for monogenic metabolic diseases in an interactive format. Attendees will gain insights into successful strategies and the advancements being made in this area. Please join us to take part in an important dialogue to shape the future of therapeutic development for the IEM community.

Did you know… The later-onset form of citrin deficiency, one of the urea cycle disorders, was formerly known as citrullinemia type 2? That term has now fallen out of favor due to confusion caused by similar names and different treatment approaches. A group of researchers has suggested using the term “adolescent and adult citrin deficiency (AACD)” for the late-onset form instead. Three recent papers are offering new insights into the disease, its prevalence, and currently available treatment options. Read more here: https://lnkd.in/eHYgpGdD #citrindeficiency #ureacycle #ureacycledisorders #inbornerrorsofmetabolism #metabolicconditions #geneticdisorders #metabolicdisorders #newresearch #didyouknow

We are always working to expand our reach to our diverse patient population through multi-language resources. We have recently added Vietnamese to our resource library! https://lnkd.in/dad2ctCK

Last year, we attended the 6th Asian Congress on Inherited Metabolic Diseases in Bangkok, Thailand. Barbara Yu gave a presentation on the Foundation’s global approach towards solving citrin deficiency. We also held a successful meeting amongst leading CD clinicians in Asia. The first Citrin Deficiency Consortium for Asia was established during the meeting, with Professor Kimitoshi Nakamura serving as Chair, Professor Fumio Endo appointed as Special Advisor, and the Foundation as its Secretariat and Sponsor. The Consortium aims to meet regularly to work on initiatives such as uncovering more patients, creating a CD patient registry, and exploring potential clinical studies

In October 2023, the Foundation sponsored a CD symposium at the 64th Japan Society of Inherited Metabolic Diseases Conference in Osaka. The symposium was co-chaired by Prof. Johannes Häberle and Prof. Kimitoshi Nakamura. Co-founder Barbara Yu delivered a presentation that highlighted the new CD research initiatives and progress made by the Foundation. This was followed by a presentation by Prof. Johannes Häberle, who discussed the pre-clinical requirements for improving the management of CD, and Prof. Kimitoshi Nakamura, who presented on the role of the CD Center of Excellence. Finally, Prof. Ituro Inoue closed the session with a presentation about the dysregulation of gene expression in liver samples from CTLN2 patients. Additionally, the Foundation co-hosted a CD luncheon with Prof. Nakamura, where many prominent regional clinicians with an interest in CD attended, further advancing our goals.

In June, our Patient Engagement Team attended the British Inherited Metabolic Disease Group Meeting in Newport, South Wales. This event is the largest meeting of its kind in the United Kingdom and Ireland, bringing together researchers, clinicians, patient groups and industry for a program of talks and networking opportunities. Our team was able to catch up with members of our professional network and foster new collaborations with those eager to contribute to our mission.

From April 14th to 17th, we participated in the Society for Inherited Metabolic Diseases (SIMD) meeting held in Charlotte, North Carolina. The Foundation sponsored a booth, where we distributed materials and information about citrin deficiency and the work we do. We were pleased to engage with numerous clinicians from the United States and Canada who have patients with citrin deficiency, providing them with valuable insights and support resources. Our poster presentation, titled "The Citrin Deficiency Model: Adapting a New Approach to Rare Disease," garnered significant interest and positive feedback from attendees. This event substantially advanced our outreach efforts in North America, fostering crucial relationships with patient advocacy groups, industry partners, researchers, and clinicians.

Last September, we held our Second In-Person Global Symposium on Citrin Deficiency in Cambridge, UK. The event was a resounding success, with 50 researchers, clinicians, and biotech representatives joining us from diverse corners of the world unified by a common goal – to solve citrin deficiency holistically.   The scientific sessions provided our dedicated professional network the opportunity to give an update on the progress the Foundation has made and discuss further advancements needed to achieve our goals. Our patient session, attended by patients and families across four continents, underscored the significance of our collective efforts.   We look forward to our next symposium which will be held in 2025. https://lnkd.in/dbCG5wFZ