Hurler’s Syndrome (MPS 1) and Pompe Disease Recommended by Federal Advisory Committee for further evidence based review on May 17, 2012

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The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children voted 11-0 on May 17th 2012 that Hurler’s Syndrome (MPS 1) and Pompe Disease sufficiently warrant further evidence based review to be considered for inclusion in the federally recommended panel of core diseases to be screened for by individual states. This is the first step or hurdle in the process of receiving an endorsement by the Secretary’s Advisory Committee. Both diseases will now undergo thorough evidenced based review by the committee which if successful will ultimately result in a formal recommendation.

Should Hurler’s and/or Pompe disease ultimately be recommended by the Secretary’s Advisory Committee it would greatly facilitate the expansion of LSDs into state newborn screening programs. Although, newborn screening programs fall under state control, many states place a high emphasis on the recommendations of the Federal Advisory Committee. California is one of those states. The recommendation of one or both of these lysosomal storage diseases (LSDs) by the Federal Advisory Committee would be great news for the future of newborn screening of LSDs across the United States.

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