The collection of data from X-ALD screening will help ensure all babies are screened and receive appropriate follow-up of an abnormal screen. By providing this data and information on timeliness of diagnosis and treatment, a true picture of national prevalence can be developed. NewSTEPs will be collecting outcome data on X-ALD newborn screening, including quality indicators and basic information about the cases diagnosed with X-ALD. Specific data to be collected can be found in the NewSTEPs Data Repository.

NewSTEPs has compiled educational resources that can be used to support screening efforts in states and regions. For all educational resources, pertinent publications and archived webinars please visit the NewSTEPs resource library and filter for X-ALD.

 

The Adrenoleukodystrophy National Registry & Biorepository (ALDNR) study was developed to address important questions about ALD, with a focus on the development of the various clinical aspects of ALD, including primary adrenal insufficiency and the development of cerebral ALD. To accomplish these goals the ALDNR longitudinally gathers information, including how the diagnosis was established, the results of testing, ongoing symptoms and clinical changes as well as the MRI scans that are obtained periodically. The role of newborn screening is a primary interest, although we are also interested in obtaining information from adults with adrenomyeloneuropathy (AMN) and women affected by the disease. Patient samples, including blood, urine and stool will be obtained in boys on the study and maintained in a biorepository to provide an opportunity for ongoing and future research related to factors that may impact adrenal and/or cerebral disease. The ALDNR is also partnering with the Association of Public Health Laboratories (APHL) and the newborn testing groups at states participating in screening to provide information from the ALDNR to those groups. For more information, visit aldnr.umn.edu.

This project is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under grant # U22MC24078. This information or content and conclusions are those of the authors and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the US Government.