The CTXA is working diligently as the engine to drive the important work required to meet the unmet needs of CTX patients. There are four key initiatives:

Education focused on earlier diagnosis and advocacy efforts for newborn screening for earlier detection to improve outcomes and therapeutic intervention.

Advocate for formal FDA indication and approval of the current treatment, which is being provided off-label and not guaranteed to be accessible in the future.

Build a community of CTX patients and families who focus on the unique and specific patient needs and represent CTX with a larger, collective voice for research and improved therapies.

Be a resource for physicians, allied healthcare providers, and other caregivers for medically vetted information on CTX, including the potential of providing laboratory testing facilities and resources on how to obtain medication.

Short-term goals include:

• To build a comprehensive website with medically vetted information and resources for patients and caregivers
• Develop a social media presence for wider outreach
• Host a CTX-specific scientific and patient session at the United Leukodystrophy Foundation’s conference in June 2022

Mid-term goals include:

• Raise global awareness to improve diagnosis rates and better outcomes for patients
• Add the CYP27A1 gene to clinical and research genetic testing panels
• Expand resources for the psychiatric and mental health issues associated with CTX

Long-term goals include:

• Advocate for FDA approval of Chenodal
• Add CTX to all newborn screening panels in the US and beyond
• Collaborate with others around the globe to find a cure

For more information or questions, please contact Jean Pickford at jpickford@ctxalliance.org.