Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

B. H. Vogel, S. E. Bradley, D. J. Adams, K. D'Aco, R. W. Erbe, C. Fong, A. Iglesias, D. Kronn, P. Levy, M. Morrissey, J. Orsini, P. Parton, J. Pellegrino, C. A. Saavedra-Matiz, N. Shur, M. Wasserstein, G. V. Raymond, M. Caggana

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Purpose: To describe a diagnostic protocol, surveillance and treatment guidelines, genetic counseling considerations and long-term follow-up data elements developed in preparation for X-linked adrenoleukodystrophy (X-ALD) newborn screening in New York State. Methods: A group including the director from each regional NYS inherited metabolic disorder center, personnel from the NYS Newborn Screening Program, and others prepared a follow-up plan for X-ALD NBS. Over the months preceding the start of screening, a series of conference calls took place to develop and refine a complete newborn screening system from initial positive screen results to long-term follow-up. Results: A diagnostic protocol was developed to determine for each newborn with a positive screen whether the final diagnosis is X-ALD, carrier of X-ALD, Zellweger spectrum disorder, acyl CoA oxidase deficiency or D-bifunctional protein deficiency. For asymptomatic males with X-ALD, surveillance protocols were developed for use at the time of diagnosis, during childhood and during adulthood. Considerations for timing of treatment of adrenal and cerebral disease were developed. Conclusion: Because New York was the first newborn screening laboratory to include X-ALD on its panel, and symptoms may not develop for years, long-term follow-up is needed to evaluate the presented guidelines.

Original languageEnglish (US)
Pages (from-to)599-603
Number of pages5
JournalMolecular Genetics and Metabolism
Volume114
Issue number4
DOIs
StatePublished - Apr 1 2015
Externally publishedYes

Fingerprint

Adrenoleukodystrophy
Clinical Protocols
Screening
Guidelines
Acyl-CoA Oxidase
Teleconferencing
Zellweger Syndrome
Protein Deficiency
Genetic Counseling
Personnel
Proteins

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Vogel, B. H. ; Bradley, S. E. ; Adams, D. J. ; D'Aco, K. ; Erbe, R. W. ; Fong, C. ; Iglesias, A. ; Kronn, D. ; Levy, P. ; Morrissey, M. ; Orsini, J. ; Parton, P. ; Pellegrino, J. ; Saavedra-Matiz, C. A. ; Shur, N. ; Wasserstein, M. ; Raymond, G. V. ; Caggana, M. / Newborn screening for X-linked adrenoleukodystrophy in New York State : Diagnostic protocol, surveillance protocol and treatment guidelines. In: Molecular Genetics and Metabolism. 2015 ; Vol. 114, No. 4. pp. 599-603.
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abstract = "Purpose: To describe a diagnostic protocol, surveillance and treatment guidelines, genetic counseling considerations and long-term follow-up data elements developed in preparation for X-linked adrenoleukodystrophy (X-ALD) newborn screening in New York State. Methods: A group including the director from each regional NYS inherited metabolic disorder center, personnel from the NYS Newborn Screening Program, and others prepared a follow-up plan for X-ALD NBS. Over the months preceding the start of screening, a series of conference calls took place to develop and refine a complete newborn screening system from initial positive screen results to long-term follow-up. Results: A diagnostic protocol was developed to determine for each newborn with a positive screen whether the final diagnosis is X-ALD, carrier of X-ALD, Zellweger spectrum disorder, acyl CoA oxidase deficiency or D-bifunctional protein deficiency. For asymptomatic males with X-ALD, surveillance protocols were developed for use at the time of diagnosis, during childhood and during adulthood. Considerations for timing of treatment of adrenal and cerebral disease were developed. Conclusion: Because New York was the first newborn screening laboratory to include X-ALD on its panel, and symptoms may not develop for years, long-term follow-up is needed to evaluate the presented guidelines.",
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Vogel, BH, Bradley, SE, Adams, DJ, D'Aco, K, Erbe, RW, Fong, C, Iglesias, A, Kronn, D, Levy, P, Morrissey, M, Orsini, J, Parton, P, Pellegrino, J, Saavedra-Matiz, CA, Shur, N, Wasserstein, M, Raymond, GV & Caggana, M 2015, 'Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines', Molecular Genetics and Metabolism, vol. 114, no. 4, pp. 599-603. https://doi.org/10.1016/j.ymgme.2015.02.002

Newborn screening for X-linked adrenoleukodystrophy in New York State : Diagnostic protocol, surveillance protocol and treatment guidelines. / Vogel, B. H.; Bradley, S. E.; Adams, D. J.; D'Aco, K.; Erbe, R. W.; Fong, C.; Iglesias, A.; Kronn, D.; Levy, P.; Morrissey, M.; Orsini, J.; Parton, P.; Pellegrino, J.; Saavedra-Matiz, C. A.; Shur, N.; Wasserstein, M.; Raymond, G. V.; Caggana, M.

In: Molecular Genetics and Metabolism, Vol. 114, No. 4, 01.04.2015, p. 599-603.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Newborn screening for X-linked adrenoleukodystrophy in New York State

T2 - Diagnostic protocol, surveillance protocol and treatment guidelines

AU - Vogel, B. H.

AU - Bradley, S. E.

AU - Adams, D. J.

AU - D'Aco, K.

AU - Erbe, R. W.

AU - Fong, C.

AU - Iglesias, A.

AU - Kronn, D.

AU - Levy, P.

AU - Morrissey, M.

AU - Orsini, J.

AU - Parton, P.

AU - Pellegrino, J.

AU - Saavedra-Matiz, C. A.

AU - Shur, N.

AU - Wasserstein, M.

AU - Raymond, G. V.

AU - Caggana, M.

PY - 2015/4/1

Y1 - 2015/4/1

N2 - Purpose: To describe a diagnostic protocol, surveillance and treatment guidelines, genetic counseling considerations and long-term follow-up data elements developed in preparation for X-linked adrenoleukodystrophy (X-ALD) newborn screening in New York State. Methods: A group including the director from each regional NYS inherited metabolic disorder center, personnel from the NYS Newborn Screening Program, and others prepared a follow-up plan for X-ALD NBS. Over the months preceding the start of screening, a series of conference calls took place to develop and refine a complete newborn screening system from initial positive screen results to long-term follow-up. Results: A diagnostic protocol was developed to determine for each newborn with a positive screen whether the final diagnosis is X-ALD, carrier of X-ALD, Zellweger spectrum disorder, acyl CoA oxidase deficiency or D-bifunctional protein deficiency. For asymptomatic males with X-ALD, surveillance protocols were developed for use at the time of diagnosis, during childhood and during adulthood. Considerations for timing of treatment of adrenal and cerebral disease were developed. Conclusion: Because New York was the first newborn screening laboratory to include X-ALD on its panel, and symptoms may not develop for years, long-term follow-up is needed to evaluate the presented guidelines.

AB - Purpose: To describe a diagnostic protocol, surveillance and treatment guidelines, genetic counseling considerations and long-term follow-up data elements developed in preparation for X-linked adrenoleukodystrophy (X-ALD) newborn screening in New York State. Methods: A group including the director from each regional NYS inherited metabolic disorder center, personnel from the NYS Newborn Screening Program, and others prepared a follow-up plan for X-ALD NBS. Over the months preceding the start of screening, a series of conference calls took place to develop and refine a complete newborn screening system from initial positive screen results to long-term follow-up. Results: A diagnostic protocol was developed to determine for each newborn with a positive screen whether the final diagnosis is X-ALD, carrier of X-ALD, Zellweger spectrum disorder, acyl CoA oxidase deficiency or D-bifunctional protein deficiency. For asymptomatic males with X-ALD, surveillance protocols were developed for use at the time of diagnosis, during childhood and during adulthood. Considerations for timing of treatment of adrenal and cerebral disease were developed. Conclusion: Because New York was the first newborn screening laboratory to include X-ALD on its panel, and symptoms may not develop for years, long-term follow-up is needed to evaluate the presented guidelines.

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