Eric J Mallack1,2, Bela Turk3, Helena Yan4, Florian S Eichler5. 1. Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA. ejm9009@med.cornell.edu. 2. Department of Pediatrics, Division of Child Neurology, Weill Cornell Medical College, NewYork-Presbyterian Hospital, 1320 York Avenue, Suite 605, New York City, NY, 10021, USA. ejm9009@med.cornell.edu. 3. Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 4. Department of Pediatrics, Division of Child Neurology, Weill Cornell Medical College, NewYork-Presbyterian Hospital, 1320 York Avenue, Suite 605, New York City, NY, 10021, USA. 5. Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA.
Abstract
PURPOSE OF REVIEW: To present an updated appraisal of hematopoietic stem cell transplant (HSCT) and gene therapy for X-linked adrenoleukodystrophy (ALD) in the setting of a novel, presymptomatic approach to disease. RECENT FINDINGS: Outcomes in HSCT for ALD have been optimized over time due to early patient detection, improved myeloablative conditioning regimens, and adjunctive treatment for patients with advanced cerebral disease. Gene therapy has arrested disease progression in a cohort of boys with childhood cerebral ALD. New therapeutic strategies have provided the clinical basis for the implementation of Newborn Screening (NBS). With the help of advocacy groups, NBS has been implemented, allowing for MRI screening for the onset of cerebral ALD from birth. Gene therapy and optimized hematopoietic stem cell transplant for childhood CALD have changed the natural history of this previously devastating neurological disease.
PURPOSE OF REVIEW: To present an updated appraisal of hematopoietic stem cell transplant (HSCT) and gene therapy for X-linked adrenoleukodystrophy (ALD) in the setting of a novel, presymptomatic approach to disease. RECENT FINDINGS: Outcomes in HSCT for ALD have been optimized over time due to early patient detection, improved myeloablative conditioning regimens, and adjunctive treatment for patients with advanced cerebral disease. Gene therapy has arrested disease progression in a cohort of boys with childhood cerebral ALD. New therapeutic strategies have provided the clinical basis for the implementation of Newborn Screening (NBS). With the help of advocacy groups, NBS has been implemented, allowing for MRI screening for the onset of cerebral ALD from birth. Gene therapy and optimized hematopoietic stem cell transplant for childhood CALD have changed the natural history of this previously devastating neurological disease.
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Authors: Eric J Mallack; Bela R Turk; Helena Yan; Carrie Price; Michelle Demetres; Ann B Moser; Catherine Becker; Kim Hollandsworth; Laura Adang; Adeline Vanderver; Keith Van Haren; Maura Ruzhnikov; Joanne Kurtzberg; Gustavo Maegawa; Paul J Orchard; Troy C Lund; Gerald V Raymond; Molly Regelmann; Joseph J Orsini; Elisa Seeger; Stephan Kemp; Florian Eichler; Ali Fatemi Journal: J Inherit Metab Dis Date: 2021-01-09 Impact factor: 4.982
Authors: Elizabeth I Pierpont; David R Nascene; Ryan Shanley; Daniel L Kenney-Jung; Richard S Ziegler; Weston P Miller; Ashish O Gupta; Troy C Lund; Paul J Orchard; Julie B Eisengart Journal: Neurology Date: 2020-07-02 Impact factor: 9.910
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