The March of Dimes released today the following statement from President Dr. Jennifer L. Howse regarding the U.S. Secretary of Health and Human Services’ acceptance of the Secretary’s Advisory Committee on Heritable Diseases recommendation to add Mucopolysaccharidosis type 1 (MPS1) and X-linked Adrenoleukodystrophy (X-ALD) to the federal Recommended Uniform Screening Panel (RUSP):
“The March of Dimes commends Secretary Burwell for adding MPS1 and X-ALD to the list of disorders for which every newborn born in the United States should be screened. This action gives states the guidance they need to adopt testing for these devastating disorders.
“Mucopolysaccharidosis type 1 is caused by the body’s inability to make an enzyme necessary to break down certain components of cells. As a result, these chemical components accumulate and can cause damage to tissues throughout the body. Patients with MPS1 may experience a wide range of symptoms and severity. Historically, children with the most severe form of MPS1 rarely survived past age 10. Treatment involves supportive care to address each patient’s specific symptoms. Encouraging early results have been seen with the use of umbilical cord blood or bone marrow transplants for children with severe MPS1. Enzyme replacement therapy (ERT) is approved by the U.S. Food and Drug Administration for children with MPS1 who do not have central nervous system involvement, and it appears that the age at which ERT is initiated influences the outcome. Newborn screening for MPS1 will permit earlier initiation of ERT and should improve outcomes.
“X-linked Adrenoleukodystrophy is among the more common inborn errors of metabolism, though still relatively rare. Since it is caused by a mutation of a gene on the X chromosome, the most severe cases generally occur among boys. The condition is associated with abnormalities of the adrenal glands, which make hormones essential for responding to stress, and of the nervous system and white matter of the brain. Treatment options are limited, but treatment with adrenal hormones prevents early death. Bone marrow transplants may be helpful for boys and adolescents who have evidence of early involvement of the brain.
“For both of these conditions, the critical importance of early diagnosis and intervention means that newborn screening is a critical tool for saving lives.
“The March of Dimes will be advocating across the nation for the addition of these two conditions to newborn screening panels in every state. We urge states to take up this vitally important issue as quickly as possible to ensure that all newborns can benefit from these potentially life-saving tests.”