Welcome to the 2025 CTX International Workshop Series being held on Monday, September 1 in Kyoto, Japan. This meeting is being held as a satellite meeting prior to the 2025 International Congress of Inborn Errors of Metabolism (ICIEM) meeting on September 2- 6, 2025.

On behalf of the CTX Alliance and the organizing committee, it is our pleasure to invite you to the workshops exclusively dedicated to cerebrotendinous xanthomatosis (CTX). Following the success of the first-ever CTX International Scientific Meeting held in Jerusalem in August 2023, the CTX Alliance is hosting this one-day workshop to build on critical collaborations and advance CTX research and patient care.

Date & Time: Monday, September 1, from 8:15 am to 3:45 pm.
Location: TBD – Kyoto Convention Center or a nearby venue.
Registration: Registration is free andopen to all stakeholders, including patients and industry representatives.

The CTX Alliance is grateful to the ICIEM for providing the opportunity to host this meeting. We anticipate many of our attendees will be leaders in patient care, biochemical and genetic diagnosis, research, nutrition, pharmacy, allied health professionals, and palliative care. It is our intention to make attending this satellite CTX meeting a convenient and educational opportunity for those already attending the SSIEM.

Please click the link to register. Registrations will be accepted until capacity is reached.

The workshop agenda will focus on three key areas:

CTX Patient Registry
Led by Dr. Hidde Huidekoper and CTX patient advocates Abbey Cook and Jean Pickford, this session will focus on establishing a framework and identifying optimal outcome measures for a future CTX registry.

CTX Clinical Severity Score
Led by Drs. Andrea DeBarber and Bob Steiner, this session will aim to develop a standardized clinical severity score to facilitate consistent data collection and analysis across studies, and to try to enable improved genotype/phenotype correlations.

Exploring Potential CTX Carrier Clinical Manifestations
Led by Drs. Antonio Federic and Tzipora Falik-Zaccai, this session will explore potential clinical manifestations in CTX carriers.

Building on the momentum established in 2023, the CTX Alliance continues to expand international engagement with physicians, scientists, patients, advocates, and industry leaders to drive progress in CTX care and research. The overarching goal of the CTX International Workshop Series is to catalyze global research and clinical collaborations for CTX, advancing our knowledge to improve outcomes for CTX patients and their families. We are honored and excited to provide this opportunity to foster international collaboration for this rare disease.