TY - JOUR
T1 - Newborn screening for X-Linked adrenoleukodystrophy
AU - Moser, Ann B.
AU - Jones, Richard O.
AU - Hubbard, Walter C
AU - Tortorelli, Silvia
AU - Orsini, Joseph J.
AU - Caggana, Michele
AU - Vogel, Beth H.
AU - Raymond, Gerald V.
N1 - Funding Information:
Supported by a grant from the NICHD (R01HD057136) and (HD079123-01A1), the European Leukodystrophy Association, the Kelly Foundation (Brian's Hope), the Run for ALD (Kane Family), the United Leukodystrophy Foundation, and The Myelin Project. The AB Sciex API4000 triple quadrupole mass spectrometer (SN J3270205) was purchased with proceeds of NIH Grant 1S10 RR16798 awarded to Walter C. Hubbard.
Funding Information:
Funding Sources: Supported by a grant from the NICHD (R01HD057136) and (HD079123-01A1), the European Leukodystrophy Association, the Kelly Foundation (Brian’s Hope), the Run for ALD (Kane Family), the United Leukodystrophy Foundation, and The Myelin Project. The AB Sciex API4000 triple quadrupole mass spectrometer (SN J3270205) was purchased with proceeds of NIH Grant 1S10 RR16798 awarded to Walter C. Hubbard.
Publisher Copyright:
© 2016 by the authors; licensee MDPI, Basel, Switzerland.
PY - 2016/12
Y1 - 2016/12
N2 - Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This article describes X-ALD, the current therapies, the history of the development of the newborn screening test, the approval by the Secretary of Health and Human Services for the addition of X-ALD newborn screening to the recommended uniform panel of disorders screened as newborns (RUSP) and the successful implementation of X-ALD newborn screening in the state of New York beginning on 30 December 2013. Follow-up guidelines that have been established in New York are outlined. Based on the success of newborn screening in New York, and early results in Connecticut, where X-ALD newborn screening started in December 2015, and in California, where X-ALD newborn screening began in September 2016, we are confident and hopeful that X-ALD newborn screening will expand to include all US states and to countries that have established neonatal screening programs. The Minster of Health in the Netherlands has approved the addition of X-ALD to the newborn screening program with a start date expected in 2017. The states, such as Massachusetts, Illinois, Minnesota, New Jersey, Florida and Washington, that have legislative approval will commence screening as soon as budgetary resources, testing and follow-up procedures are in place.
AB - Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This article describes X-ALD, the current therapies, the history of the development of the newborn screening test, the approval by the Secretary of Health and Human Services for the addition of X-ALD newborn screening to the recommended uniform panel of disorders screened as newborns (RUSP) and the successful implementation of X-ALD newborn screening in the state of New York beginning on 30 December 2013. Follow-up guidelines that have been established in New York are outlined. Based on the success of newborn screening in New York, and early results in Connecticut, where X-ALD newborn screening started in December 2015, and in California, where X-ALD newborn screening began in September 2016, we are confident and hopeful that X-ALD newborn screening will expand to include all US states and to countries that have established neonatal screening programs. The Minster of Health in the Netherlands has approved the addition of X-ALD to the newborn screening program with a start date expected in 2017. The states, such as Massachusetts, Illinois, Minnesota, New Jersey, Florida and Washington, that have legislative approval will commence screening as soon as budgetary resources, testing and follow-up procedures are in place.
KW - Adrenal insufficiency
KW - C26:0 lysophosphatidyl choline
KW - Dried blood spot
KW - Hematopoietic cell transplantation
KW - Newborn screening
KW - Peroxisomal disorders
KW - Tandem mass spectrometry (LC-MS/MS)
KW - X-linked adrenoleukodystrophy
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U2 - 10.3390/ijns2040015
DO - 10.3390/ijns2040015
M3 - Article
AN - SCOPUS:85032985304
VL - 2
JO - International Journal of Neonatal Screening
JF - International Journal of Neonatal Screening
SN - 2409-515X
IS - 4
M1 - 15
ER -