CTX Family Session Recap – June 24, 2023
at the ULF National Conference in Itasca, IL

Here are the highlights from our CTX Family Session, where thirty attendees, either in person or virtually, took part in the meeting – patients, families, researchers, physicians, and advocates. Our agenda featured a full day of programming, packed with insightful presentations and engaging discussions, which marked another significant step in our journey towards advocating for and advancing the understanding of Cerebrotendinous Xanthomatosis (CTX).

Morning Session: Advocating for Newborn Screening

Our morning kicked off with a strong session dedicated to advancing newborn screening for CTX. Ms. Jean Pickford and Dr. Andrea DeBarber set the tone with a discussion on our progress towards RUSP Nomination and advocating for expanded screening. Dr. Austin Larson followed, shedding light on the genetics of CTX and considerations for newborn screening. Dr. Michael Gelb provided updates on newborn screening efforts in New York State, while Dr. Frederic Vaz shared insights from newborn screening efforts in The Netherlands. The session concluded with Dr. Gelb exploring the potential for multiplexing CTX screening with other diseases, followed by an interactive Q&A session.

After a productive morning session, attendees enjoyed a well-deserved break, coming together with other ULF participants in Burnham’s Dining Room to recharge and network.

The afternoon commenced with a warm welcome and group photo led by Ms. Jean Pickford and Dr. Robert Steiner, setting the stage for further exploration into CTX-related topics. Dr. Steiner provided a comprehensive clinical overview, while Dr. Andrea DeBarber delved into advances in biochemical testing. Dr. Philip Swanson, a pioneer in CTX research shared the story behind his and Dr. Menkes’ discovery of elevated cholestanol in CTX, offering a glimpse into the journey behind this pivotal research.

Further discussions unfolded as Dr. Hidde Huidekoper explored the intersection of autism and CTX, emphasizing the importance of early diagnosis. Dr. Ken Setchell shed light on CTX presenting as liver disease in infants and shared insights on treatment experiences from infancy to childhood. Dr. Brian Wishart rounded off the session with a focus on psychiatric and behavioral issues in children and adolescents with CTX.

As the day ended, Jean Pickford, our Executive Director, delivered closing remarks, highlighting key takeaways, and announcing the upcoming International CTX Scientific Meeting in Jerusalem, Israel, slated for the end of August. The day concluded with a sponsored reception by Travere Therapeutics, providing an opportunity for all CTX stakeholders to connect and celebrate progress.