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Lysosomal Storage Disorders: Newborn Screening

March 27, 2014

This is the eighth Blog Post in a series that examines Lysosomal Storage Disorders (LSDs) in the rare disease and orphan drug space. This Blog Post presents recent developments for newborn screening (NBS) for LSDs in the United States.

NBS for several LSDs has been proposed in several states. The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC), chartered in April 2013, has received nominations for routine screening for the following LSDs:

•   Fabry Disease (2008 non-approval)

•   Krabbe Disease (2009 non-approval)

•   MPS I (in process)

•   Niemann-Pick Disease (2008 non-approval)

•   Pompe Disease (currently awaiting Secretary of HHS’ decision).

** Reference the chart, “Summary of Nominated Conditions to the Recommended Uniform Screening Panel (RUSP) as of January 2014”.

It is a lengthy and thorough procedure to get a condition added to the Recommended Uniform Screening Panel (RUSP). RUSP is a list of disorders “that are screened at birth and recommended by the Secretary of the Department of Health and Human Services (HHS) for states to screen as part of their state universal NBS programs.” Conditions that are to be considered by the DACHDNC for inclusion in the RUSP, can be nominated by individuals and organizations. DACHDNC encourages the formation of multi-disciplinary teams, made up of advocacy and/or professional organizations, clinicians and/or researchers, with knowledge of issues important to NBS. The lead person or team leader submits a Nomination Package that includes:

•   Cover letter identifying all team members

•   Letters of support from the team members

•   Completed “Conflict of Interest Disclosure Form” for team members

•   Completed “Nomination Form” requesting a particular condition to be included in the RUSP

•   Supporting scientific and/or clinical references and data.

The next step is for DACHDNC’s Nomination and Prioritization (N&P) Workgroup to review the submitted Nomination Package and to put together a summary document for DACHDNC to review. DACHDNC decides if there is enough evidence for the condition to be added to the RUSP, and votes on whether or not the condition is to be assigned to the external Condition Review Workgroup.

The Condition Review Group produces a systematic review, provides updates, and presents a final report to DACHDNC on assigned conditions. DACHDNC votes to recommend or not to recommend adding the nominated condition to the RUSP for consideration by the US Secretary of HHS. It is the Secretary of HHS who makes the final decision as to whether or not to add the condition to the RUSP.

In May 2013, DACHDNC recommends the addition of Pompe Disease to the RUSP. DACHHDNC felt that there:

“ … are significant benefits in screening for Pompe Disease. Data shows that screening for Pompe, as opposed to clinical identification alone, results in earlier diagnosis and treatment of the infantile form of the disease.”

The addition of Pompe Disease to the RUSP is awaiting the Secretary of HHS’ decision.

The last DACHDNC meeting is held in January 2014. The next DACHDNC meeting is scheduled for May 29 – 30, 2014.

Please Note: “First Pigment Analysis (5893349712)” by NASA ICE (First Pigment Analysis Uploaded by russavia) [CC-BY-2.0] | Wikimedia Commons.

Copyright © 2012-2014, Orphan Druganaut Blog. All rights reserved.

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