At the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium 2024 in Porto, Portugal, Citrin Foundation hosted a unique roundtable discussion titled “Multi-Stakeholder Perspectives on the Development of Novel Therapies for Monogenetic Metabolic Diseases“.
Moderated by Barbara Yu, co-founder of the Foundation, and Prof. Cary O. Harding, from Oregon Health & Science University, the session brought together a highly relevant and diverse group of panelists, including the top global regulators, Dr. Peter Marks, Director of the Center for Biologics Evaluation and Research at the FDA, and Kristina Larsson, Head of the Office for Orphan Medicines at the EMA, alongside Prof. Simon Jones from St. Mary’s Hospital at the University of Manchester, Prof. Dwight Koeberl from Duke University School of Medicine, Raquel Marques, Founder and Head of the Sanfilippo Portugal Association, and Tresa Warner, President of the National Urea Cycle Disorders Foundation.
The panel discussed the challenges of translating preclinical findings into clinical trials for monogenic 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 a 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.
The event underscored the collaborative efforts needed to overcome barriers and advance novel therapies for patients. We are grateful to all of those who took part, particularly our panelists who contributed their valuable expertise and insight.
Poster Presentation by Citrin Foundation
The Foundation also presented a poster titled “Unravelling the Enigma of Citrin Deficiency: A Novel Holistic Multidisciplinary Approach“. The poster outlined the complexity of CD and provided an overview of the Foundation’s multidisciplinary approach to address these challenges. By highlighting the intricate and complex nature of CD, the poster called for collaborative efforts and invited those interested to join us in advancing research and treatment for this condition. You may click on the poster to read more.
