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The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy

  • Pediatric Neurology (A Yeshokumar, Section Editor)
  • Published:
Current Treatment Options in Neurology Aims and scope Submit manuscript

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.

Summary

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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References and Recommended Reading

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Authors and Affiliations

  1. Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA

    Eric J. Mallack MD & Florian S. Eichler MD

  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

    Eric J. Mallack MD & Helena Yan BA

  3. Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Bela Turk MD

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Correspondence to Eric J. Mallack MD.

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Conflict of Interest

Eric Mallack receives research support from the NINDS (5 K12 NS066274-08).

Bela Turk declares that he has no potential conflicts of interest.

Helena Yan declares that she has no potential conflicts of interest.

Florian S. Eichler receives research support from FDA Orphan Disease Group (R01 FD004127), NINDS (R01 NS072446, R01 NS082331), Retrophin, Minoryx, bluebird bio, and AGTC.

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Mallack, E.J., Turk, B., Yan, H. et al. The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy. Curr Treat Options Neurol 21, 61 (2019). https://doi.org/10.1007/s11940-019-0605-y

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