CTX Family Session Recap – June 27, 2025 at the ULF Family Conference in Itasca, IL

The CTX Alliance hosted its annual Patient & Family Meeting at the beautiful Eaglewood Resort in Itasca, Illinois, uniting patients, families, clinicians, researchers, and international experts for an inspiring day of learning and connection. Executive Director Jean Pickford opened the event with a warm welcome, a review of the day’s agenda, and heartfelt thanks to the speakers, medical advisors, board members, and the entire CTX community for their collaboration and support.

Exploring the Science and Understanding of CTX
The program began with Dr. P. Barton Duell (Oregon Health & Science University), who provided an introduction to the genetic causes, clinical signs, and symptoms of CTX. He explained how biallelic mutations in CYP27A1 lead to decreased bile acid production and elevated cholestanol in tissues, resulting in progressive neurological dysfunction, xanthomas, cataracts, osteoporosis, and other systemic effects. His key message: early diagnosis and treatment are critical to prevent irreversible outcomes.

Dr. Andrea DeBarber (OHSU) followed with her presentation on Expanding Available Approaches for the Biochemical Diagnosis of CTX, highlighting ongoing research to improve testing accuracy and accessibility. Dr. Duell then returned to present findings from the Phase III RESTORE Clinical Trial, which confirmed the safety and efficacy of chenodeoxycholic acid (CDCA)—the long-standing standard of care for CTX. The RESTORE results led to FDA approval of CDCA (Ctexli) for adults with CTX, a historic milestone for the community.

Global Expertise and Collaborative Insights
Two international experts joined the program to share valuable global perspectives. Dr. Paulo Ribeiro Nóbrega (Brazil) discussed the diverse clinical spectrum of CTX, emphasizing its multisystem nature, the importance of improved biomarkers and patient-reported outcome measures, and the potential development of a CTX-specific clinical rating scale. Dr. Jonas A. M. Saute (Brazil) presented Breaking Barriers: Advancing Global Access to Treatment, addressing the challenges of ensuring sustainable access to rare disease therapies and the need for stronger cooperation among patients, healthcare providers, industry, and government.

New Milestones in Genetic Diagnosis and Data Collection<
After a short break, Dr. Robert Steiner (University of Wisconsin) delivered two key presentations. First, he announced the exciting inclusion of CTX on the American College of Medical Genetics and Genomics (ACMG) Secondary Findings list, meaning genetic testing laboratories will now actively screen for CYP27A1 variants, even when CTX is not the initial reason for testing. This major step forward allows more individuals to be identified before symptoms appear, enabling earlier treatment and improved outcomes.
Dr. Steiner’s second talk focused on building a CTX patient registry—a collaborative, international project led by the CTX Alliance. The registry will collect both clinical and lived-experience data to help researchers and clinicians better understand CTX and improve care.

Patient advocate Abbey Cook, mother of two adult sons with CTX, gave a heartfelt talk about her family’s diagnostic journey. She powerfully illustrated the impact of early treatment by sharing her son Zach’s writings before and after therapy—showing his remarkable transformation from despair to joy and vitality.

Genetics, Clinical Care, and Looking Ahead
The final lecture of the day was delivered by Dr. Jennifer Rossen (Northwestern University/Ann & Robert H. Lurie Children’s Hospital of Chicago), who presented Pediatric Cataracts and ClinGen: Bridging Genetics and Clinical Care. She explained how data from CTX patient registries can support ClinGen efforts to improve genetic testing interpretation and access for children with early signs such as cataracts, with a goal of completing ClinGen work for CYP27A1 within the next two years.

CTX Alliance Updates and Celebration
In closing remarks, Jean Pickford provided updates on the CTX Alliance’s initiatives, including ongoing advocacy for newborn screening at both federal and state levels, and the upcoming International CTX Workshop to be held in Kyoto, Japan in September 2025. She also announced the upcoming publication of the first-ever comprehensive book on CTX, “CTX: A Treatable Rare Neurometabolic Disorder,” featuring contributions from leading global experts and patient advocates.

Jean also highlighted the first annual CTX Awareness Day—set for September 17—and presented a visual timeline of key milestones achieved since the Alliance’s founding in 2021. She encouraged attendees to continue supporting the organization’s mission through one-time or monthly donations.

The meeting concluded with a celebratory toast to the FDA approval of Ctexli—a triumph years in the making—and to the collective efforts of the CTX community around the world.

As the conference continued into Friday evening, all attendees gathered in the main ballroom for dinner, awards, and entertainment. We were thrilled to celebrate Dr. Andrea DeBarber, who received the prestigious Moser Service Award, presented annually by the United Leukodystrophy Foundation to one game-changer each year. Dr. DeBarber has devoted her career to advancing CTX research, always putting patients first. Her quiet selflessness and humility have guided every step of her work—never seeking the spotlight, only solutions. We were proud to see her long-standing dedication recognized publicly. It was her moment, and it was truly well-deserved.