Newborn Screening: MPS I Recommended To Be Added
The Health Resources and Services Administration (HRSA) is an agency of the United States Department of Health and Human Services (HHS), located in Rockville, Maryland. HRSA is the main U.S. federal agency with the responsibility of improving access to health care services for Americans who are uninsured, isolated, or medically vulnerable.
HRSA has Federal Advisory Committees, with the purpose of making recommendations or advising on issues relating to programs, responsibilities, and activities of HHS. One of these Federal Advisory Committees is the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC), chartered in April 2013. DACHDNC’s mission is to:
“ … reduce morbidity and mortality in newborns and children who have, or are at risk for, heritable disorders. The Committee recommends that every newborn screening program include a Recommended Uniform Screening Panel (RUSP) that screens for 31 core disorders and 26 secondary disorders; the disorders’ selection was based on the Newborn Screening: Towards a Uniform Screening Panel and System.”
DACHDNC met this month, February 12 – 13, and voted in favor of recommending to the Secretary of HHS, that MPS-1 be added to the RUSP.
MPS I is caused by a deficiency of an enzyme, alpha-L-Iduronidase. MPS I is also referred to as Hurler, Hurler-Scheie, and Scheie Syndromes. MPS I occurs in approximately 1/100,000 newborns globally.
Currently in the US, Aldurazyme (Laronidase) is approved by the FDA for patients with Hurler and Hurler-Scheie forms of Mucopolysaccharidosis I (MPS I), and for patients with the Scheie form who have moderate to severe symptoms. Aldurazyme is an Enzyme Replacement Therapy (ERT) injection for MPS I. In the European Union (EU), Aldurazyme is approved for MPS I to treat the non-neurological symptoms of the disease.