Providing education, support, advocacy, and promoting research
for CTX patients, their families, and medical professionals
who treat and study this rare disease.
The 2025 CTX International Workshop Series, held on Monday, September 1, 2025, in Kyoto, Japan at The Prince Kyoto Takaragaike, brought together an international community of clinicians, researchers, patient advocates, industry representatives, and families committed to advancing progress in Cerebrotendinous Xanthomatosis (CTX). The meeting served as a satellite workshop ahead of the International Congress of Inborn Errors of Metabolism (ICIEM) and welcomed a total of 97 registered participants from around the world, including 51 attending in person and 46 participating virtually.
Building on the important conversations initiated during the 2023 international CTX meeting in Jerusalem, the primary focus of the 2025 workshop was the continued development of a global CTX patient registry. Participants collaborated in a series of working sessions designed to identify and refine the foundational components necessary to create a comprehensive, standardized, and internationally reproducible registry framework. Discussions centered on governance structure, data collection priorities, clinical and patient-reported datasets, international collaboration strategies, and long-term sustainability. The overall goal of the initiative is to create a scalable registry model that can support research, improve patient care, strengthen advocacy efforts, and facilitate greater understanding of the natural history and treatment outcomes of CTX worldwide.
A major component of the workshop focused on advancing clinical tools and research priorities for the CTX community. Drs. Andrea DeBarber and Robert Steiner led a collaborative session exploring the development of a CTX Clinical Severity Scoring Index. Discussions highlighted the need for improved standardization of symptom assessment and clinical monitoring to better understand phenotype–genotype correlations, disease progression, and treatment response across diverse patient populations. This effort represents an important step toward establishing more consistent outcome measures that can be used in both clinical practice and future research studies.
Additional sessions featured internationally recognized experts presenting emerging scientific and clinical findings related to CTX. Dr. Akira Honda shared important contributions to the biochemical understanding of CTX, while Dr. Yoshiki Sekijima presented clinical experiences and insights from Japanese CTX patient cohorts. The workshop also included a dedicated discussion led by Drs. Antonio Federico and Tzipora Falik-Zaccai examining emerging evidence related to potential clinical manifestations in CTX heterozygotes. Participants explored current findings, unanswered questions, and potential avenues for future investigation in this evolving area of research.
Throughout the day, the workshop fostered meaningful international collaboration and interdisciplinary dialogue among stakeholders from multiple countries and professional backgrounds. The combination of scientific presentations, collaborative planning sessions, and open discussion reinforced the growing global commitment to improving outcomes for individuals and families affected by CTX. The meeting concluded with a strong sense of momentum and clear next steps for advancing both the international patient registry initiative and broader collaborative research efforts aimed at improving diagnosis, treatment, and long-term care for the global CTX community.
