Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation
Alex R. Kemper,Jeffrey P. Brosco,Anne Marie Comeau,Nancy S. Green,Scott D. Grosse,Elizabeth Jones,Jennifer M. Kwon,Wendy Lam,Jelili Ojodu,Lisa A. Prosser,Susan Tanksley +10 more
TLDR
Significant challenges exist for implementing comprehensive X-ALD newborn screening, including incorporation of the test, coordinating follow-up diagnostic and treatment care, and coordination of extended family testing after case identification.About:
This article is published in Genetics in Medicine.The article was published on 2017-01-01 and is currently open access. It has received 69 citations till now. The article focuses on the topics: Newborn screening.read more
Citations
More filters
Journal ArticleDOI
X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.
TL;DR: This review summarizes the current understanding of the pathogenic cell‐ and tissue‐specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and the advent of newborn screening in the USA.
Journal ArticleDOI
Precision newborn screening for lysosomal disorders.
Melissa M Minter Baerg,Stephanie D Stoway,Jeremy Hart,Lea Mott,Dawn Peck,Stephanie L. Nett,Jason S Eckerman,Jean M. Lacey,Coleman T. Turgeon,Dimitar Gavrilov,Devin Oglesbee,Kimiyo Raymond,Silvia Tortorelli,Dietrich Matern,Lars Mørkrid,Piero Rinaldo +15 more
TL;DR: Postanalytical interpretive tools can drastically reduce false-positive outcomes, with preliminary evidence of no greater risk of false-negative events, still to be verified by long-term surveillance.
Journal ArticleDOI
Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation.
Gerald V. Raymond,Patrick Aubourg,Asif M. Paker,Maria L. Escolar,Alain Fischer,Stéphane Blanche,André Baruchel,Jean Hugues Dalle,Gérard Michel,Vinod K. Prasad,Weston P. Miller,Susan Paadre,John J Balser,Joanne Kurtzberg,David Nascene,Paul J. Orchard,Troy C. Lund +16 more
TL;DR: HSCT is confirmed as an effective treatment for CALD when performed early, and survival without MFDs is proposed as a relevant treatment goal, rather than solely assessing OS as an indicator of treatment success.
Journal ArticleDOI
Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism
TL;DR: Novel strategies, such as gene therapy, have shown encouraging clinical results in selected IEMs and might become more widely available in the future, with potentially better enzyme delivery and reduced transplant-related toxicity.
Journal ArticleDOI
Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.
TL;DR: The newborn screening program is a successful public health initiative that facilitates early diagnosis of treatable disorders to reduce long-term morbidity and mortality.
References
More filters
Journal ArticleDOI
X-linked adrenoleukodystrophy.
TL;DR: A promising new method for mass newborn screening has been developed, the implementation of which will have a profound effect on the diagnosis and therapy of X-ALD.
Journal ArticleDOI
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Marc Engelen,Stephan Kemp,Marianne de Visser,Björn M. van Geel,Ronald J.A. Wanders,Patrick Aubourg,Bwee Tien Poll-The +6 more
TL;DR: This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder.
Journal ArticleDOI
Ethical and Policy Issues in Genetic Testing and Screening of Children
TL;DR: This policy statement represents recommendations developed collaboratively by the American Academy of Pediatrics and the American College of Medical Genetics and Genomics with respect to many of the scenarios in which genetic testing and screening can occur.
Journal ArticleDOI
Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.
Charles Peters,Lawrence R. Charnas,Ye Tan,Richard S. Ziegler,Elsa Shapiro,Todd E. DeFor,Satkiran S. Grewal,Paul J. Orchard,S Abel,Anne I. Goldman,Norma K.C. Ramsay,Kathryn E. Dusenbery,Daniel J. Loes,Lawrence A. Lockman,Shunichi Kato,Patrick R. Aubourg,Hugo W. Moser,William Krivit +17 more
TL;DR: It is concluded that boys with early-stage disease benefit from HCT, whereas boys with advanced disease may be candidates for experimental therapies.
Journal ArticleDOI
Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Lena Bezman,Ann B. Moser,Gerald V. Raymond,Piero Rinaldo,Paul A. Watkins,Kirby D. Smith,Nancy E. Kass,Hugo W. Moser +7 more
TL;DR: Diagnostic tests should be offered to all at‐risk relatives of X‐ALD patients and should include members of the extended family, because identification of heterozygotes provides the opportunity for disease prevention through genetic counseling.
Related Papers (5)
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy
Florian Eichler,Christine Duncan,Patricia L. Musolino,Paul J. Orchard,Satiro N. De Oliveira,Adrian J. Thrasher,Myriam Armant,Colleen Dansereau,Troy C. Lund,Weston P. Miller,Gerald V. Raymond,Raman Sankar,Ami J. Shah,Caroline Sevin,H. Bobby Gaspar,Paul Gissen,Hernan Amartino,Drago Bratkovic,Nicholas J.C. Smith,Asif M. Paker,Esther Shamir,Tara O'Meara,David Davidson,Patrick Aubourg,David A. Williams +24 more