X-Linked Adrenoleukodystrophy (X-ALD) Educational Resources
NewSTEPs has compiled educational resources to support X-Linked Adrenoleukodystrophy (X-ALD) newborn screening (NBS) efforts across states and territories.
- APHL Public Health System Impact Assessment: This is a factsheet that describes the process for screening for X-Linked Adrenoleukodystrophy (X-ALD).
- Newborn Screening for X-ALD: This is a final evidence review report from the New Condition Review Workgroup on Newborn Screening (NBS) for X-Linked Adrenoleukodystrophy (X-ALD) presented by the Duke Clinical Research Institute.
The New York - Mid-Atlantic Consortium (NYMAC) has posted the following Newborn Screening (NBS) for Adrenoleukodystrophy (ALD) Symposium Talks.
- Diagnostic Testing and History of Adrenoleukodystrophy presented by Ann Moser, BA;
- ALD Management and Treatment presented by Gerald Raymond, MD
- Genetic Counseling Considerations of ALD Newborn Screening and Differential Diagnoses presented by Beth Vogel;
- New York State ALD Laboratory Protocol presented by Joeseph Orsini, PhD
- Protocol for Diagnosis and Management Guidelines presented by Sarah Bradley, MS, CGC;
- Parent and Patient Perspectives presented by Spenser Barsh
- Status of ALD Screening in New Jersey presented by Scott Shone, PhD;
- Parent and Patient Perspectives presented by Elisa Seeger
- Long-term Follow-up and Educational Materials Group Discussion presented by Beth Vogel, MS, CGC
- Review NYS ALD Outcomes presented by Michele Caggana, Scd, FACMD;
- Status of ALD Screening in California presented by Bob Currier, Phd
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.