CTX Family Session Recap – June 28, 2024
at the ULF Family Conference in Itasca, IL

The CTX Alliance hosted its annual half-day patient and family meeting on June 28, 2024, during the ULF National Conference in Itasca, Illinois. This gathering brought together patients, families, and researchers to connect, share experiences, and discuss critical developments in the field of CTX. The session fostered a sense of community while providing invaluable insights into ongoing research and advocacy efforts.

Prior to the half-day patient and family meeting, CTX medical leaders gathered for an interactive morning session to finalize the preliminary nomination questions for the nomination of CTX to be added to the Recommended Uniform Screening Panel (RUSP). The Newborn Screening Task Force worked to review the full application questions, discussing topics related to the condition itself, newborn screening, and the net benefits of early detection. Each section was assessed thoughtfully and efficiently, allowing the group to focus on the most critical issues. The discussion also included exploring the potential benefits and harms of newborn screening, weighing both the challenges and opportunities that early diagnosis brings. The session continued with an exploration of strategies for the Patient Advocacy Group (PAG) action plan, with an emphasis on sustaining advocacy efforts and strengthening community engagement. By the end of the morning, the group had outlined a clear path forward, concluding with a summary of key takeaways and the next steps for continued progress.

All participants then gathered for our kick-off luncheon before the half-day CTX scientific and family meeting by dining together, which provided an opportunity for informal conversation, networking, and building connections among the attendees.  The afternoon session began shortly thereafter with presentations by leading researchers and clinicians, both in-person and remotely. Dr. Florian Eichler spoke on the significance of clinical trials in ensuring drug safety and efficacy, highlighting potential future clinical trials for CTX. Next, Dr. Gloria González Aseguinol joined remotely to present promising preclinical data from a mouse CYP27A1 knockout model, discussing the potential for gene therapy as a treatment avenue for CTX. Dr. Irina Pikuleva followed with insights from in vitro enzyme assays, exploring the implications of CYP46A1 and CYP27A1 inhibitors for CTX patients. Dr. Lei Ling then presented on a variant of FGF19 as a potential therapeutic option for cholestatic liver diseases and its relevance to bile acid synthesis disorders.

After a brief break, the session resumed with Dr. Zhentao Zhang, who joined remotely from China to discuss new findings on how cholestanol may influence protein aggregation related to CTX by activating asparagine endopeptidase. Professor Tzipora Falik-Zaccai, who attended in person from Jerusalem, Israel, presented real-world data supporting the safe use of CDCA during pregnancy in CTX patients. Dr. Kenneth Setchell then shared his experiences with the co-administration of cholic acid and chenodeoxycholic acid for CTX treatment, discussing patient outcomes and safety. To conclude the session, Dr. Austin Larson provided an update on the Phase 3 RESTORE clinical trial, which supports the use of CDCA as a treatment for CTX.

The 2024 CTX Family Session was an inspiring and informative gathering, bringing together families, patients, and experts to discuss the latest advancements and ongoing efforts in CTX research and care. The thoughtful presentations and engaging discussions made it a truly valuable experience for all who attended. The CTX Alliance extends sincere gratitude to all presenters, attendees, and organizers for making this event a resounding success. We look forward to continuing our work together to support the CTX community.