In September 2015, the Advisory Committee on Heritable Disorders in Newborn and Children (ACHDNC) recommended to the Secretary of Health and Human Services (HHS) to expand the recommended Uniform Screening Panel (RUS) to include X-linked Adrenoleukodystrophy (X-ALD). Secretary Burwell recently accepted these recommendations to expand the RUSP to include addition of X-ALD (and Mucopolysaccharidosis type 1).
Some newborn screening programs int the US are currently screening for X-ALD and others will follow in the coming years. There is a need for more information sharing to better understand the clinical aspects of X-ALD and available screening methods.
On April 20, 2016, APHL's Quality Assurance/Quality Control Subcommittee of the Newborn Screening and Genetics in Public Heath Committee along with the Newborn Screening Quality Assurance Program, Centers for Disease Control and Prevention, cosponsored "X-ALD 101: Clinical Aspects and Screening Methods". This webinar was geared towards those who are or may be responsible for screening, diagnosing, and treating X-ALD.
The webinar provided information regarding the clinical aspects of X-ALD including overview of the disease, available screening methods, follow-up and diagnostic evaluation, treatment options, and available CDC Quality assurance materials. Please find the agenda for the webinar below:
- Welcome and Introduction | Patricia Hunt, Manager, Newborn Screening, Texas Department of State Health Services and co-chair, APHL Quality Assurance Quality Control Subcommittee
- Overview of X-ALD, Clinical Manifestations and Treatment | Gerard V. Raymond, M.D., Director of Pediatric Neurology, Department of Neurology, University of Minnesota
- Overview of Available Screening Methods | Joseph Orsini, Ph.D., Research Scientist, New York State Department of Health-Wadsworth Center and co-chair, APHL Quality Assurance Quality Control Subcommittee
- Follow Up and Diagnostic Evaluation | Beth Vogel, MS, CGC, Genetic Counselor, New York State Department of Health-Wadsworth Center
- CDC Quality Assurance Materials | Christopher Haynes, Ph.D., Coordinator, X-ALD QC and PT Programs, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention
- Q&A Closing | Patricia Hunt, Manager, Newborn Metabolic Screening, Texas Department State Heath Services and co-chair, APHL Quality Assurance Quality Control Subcommittee
A recording of the webinar is available linked here.