Providing education, support, advocacy, and promoting research
for CTX patients, their families, and medical professionals
who treat and study this rare disease.
Newborn screening offers the opportunity to identify serious but treatable conditions before symptoms appear, allowing affected children to receive timely interventions that can significantly improve long-term health outcomes. For individuals born with Cerebrotendinous Xanthomatosis (CTX), early diagnosis is especially important because treatment can prevent or greatly reduce many of the progressive neurological and systemic complications associated with the disease.
Over the past decade, scientific evidence supporting newborn screening for CTX has continued to grow. Research has demonstrated that CTX can be reliably detected through screening methods and that early treatment can alter the course of the disease. Despite these advances, CTX is not currently included on the Recommended Uniform Screening Panel (RUSP), and newborn screening for CTX is not routinely performed in the United States.
The CTX Alliance has been at the forefront of efforts to change that reality. Through national advocacy, collaboration with clinicians and researchers, participation in federal and emerging newborn screening review processes, and state-level initiatives, the CTX Alliance continues to pursue multiple pathways to ensure that every child born with CTX has the opportunity for early diagnosis and life-changing treatment.
The CTX Alliance spent years building the evidence requested during the initial federal review process. By 2024, sufficient new data had been generated to support a resubmission for national newborn screening consideration.
Newborn screening is an evolving public health system that varies throughout the country due to several factors, including laws of each state, financial costs of screening, frequency of the disorder in the state, availability of treatments and follow-up for each condition, and the funding sources for the state newborn screening program. Most state screening programs screen for disorders on the federally recommended uniform screening panel of disorders screened for in newborns (RUSP).
Currently, CTX is not on the RUSP, and newborn screening for CTX is not routinely being performed by any state, although this is an active area of study.
Newborn screening is performed soon after the birth, and in most cases, while mom and baby are still in the hospital. Families who are aware that a leukodystrophy is in their family’s medical history should speak with a genetic counselor to see what tests can be done prenatally or ensure that testing is done as soon as possible after the baby is born.
Over the past several years, the United Leukodystrophy Foundation (ULF) community has actively participated in lobbying for leukodystrophy newborn screening. Because there are so many different leukodystrophies with different diagnostic tests, it is not currently possible to screen for most of them. The newborn screening tests which are done for a child born in the United States are decided on a state-by-state basis.
Check out the BabysFirstTest.org for more details about testing or contact the ULF if you are interested in sending a letter to your local government representative advocating for leukodystrophy-focused newborn screenings for your state.
