NBS09: Newborn Screening for X-Linked Adrenoleukodystrophy

CLSI requests nominations for volunteers to serve as members and contributors on a document development committee for a new document.

Description

CLSI document NBS09 will provide information on newborn screening (NBS) for X-linked adrenoleukodystrophy (X-ALD), which ensures all potentially affected newborns are detected before the onset of symptoms. This detection leads to early diagnosis of boys with X-ALD. Early detection is essential for preventing death from adrenal insufficiency and for timely therapy with hematopoietic cell transplantation for the childhood cerebral form of X-ALD. The report will include an overview of the screening methods currently in use or published, quality assurance and quality control requirements for X-ALD NBS methods, and commercial assays under development. The report will also include the follow-up testing needed for case diagnosis, the follow-up needed for newborns who may develop X-ALD, and associated genetics clinical care and counseling recommendations. X-ALD is the first entirely X-linked disorder that has been added to the US Recommended Uniform Screening Panel. This report will highlight the challenges associated with this screening and provide solutions for NBS programs to implement it.

This group is looking for volunteers with:

  • Expertise in all phases of the NBS process
  • Expertise in international NBS programs and processes
  • Expertise in health care professions (pediatrics, genetic counseling, family practice, nursing) involved with NBS follow-up
  • Expertise in NBS instrumentation and reagents
  • Experience and knowledge of NBS regulatory aspects

Additional information on essential job duties and skills and abilities for CLSI committee participants can be viewed here.

Timeline for this project

March 18-22, 2018: First face-to-face meeting (NOTE: This will be a 2-day meeting scheduled during the March Committees Week in Baltimore, Maryland.)
November 2017 to October 2018: Drafting of document (higher-intensity volunteer time period)
January 2019 to February 2019: Voting period for draft document
March 2019 to April 2019: Revision of draft based on comments received during voting
July 2019: Expected publication date

Due date for submission of required documentation

Please submit nominations and required documentation (see Requirements for Nomination Consideration) on or before October 9, 2017 to volunteer@clsi.org.