Umbilical cord blood transplantation to treat Pelizaeus-Merzbacher Disease in 2 young boys.

dc.contributor.author

Wishnew, Jessica

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Page, Kristin

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Wood, Susan

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Galvin, Leo

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Provenzale, James

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Escolar, Maria

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Gustafson, Kathryn

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Kurtzberg, Joanne

dc.date.accessioned

2022-03-24T19:17:00Z

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2022-03-24T19:17:00Z

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2014-11

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2022-03-24T19:16:59Z

dc.description.abstract

Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive leukodystrophy caused by mutations in the proteolipid protein 1 gene on the Xq22 chromosome. PMD is a dysmyelinating disorder characterized by variable clinical presentation and course. Symptoms range from mild motor deficits to progressive spasticity and neurologic decline resulting in death at an early age. There is no definitive curative treatment. This report presents the clinical course of 2 young boys with PMD who are the first known patients to receive umbilical cord blood transplantation as a therapeutic intervention to stabilize disease progression. Pretransplantation evaluation revealed that both patients had significant motor deficits as well as delayed cognitive function as compared with age-matched peers. Brain imaging revealed varying degrees of hypomyelination. Both patients received myeloablative chemotherapy followed by an unrelated donor umbilical cord blood infusion, which they tolerated well with no major transplantation-related complications. At 7-years and 1-year posttransplantation, respectively, both boys are making slow neurocognitive improvements and show no evidence of functional decline. Imaging results show stable or improving myelination. Although the results of unrelated donor umbilical cord blood transplantation in these 2 boys with PMD are encouraging, longer-term follow-up will be necessary to assess the effect of this treatment on the variable natural disease course.

dc.identifier

peds.2013-3604

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0031-4005

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1098-4275

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https://hdl.handle.net/10161/24711

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eng

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American Academy of Pediatrics (AAP)

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Pediatrics

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10.1542/peds.2013-3604

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Humans

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Pelizaeus-Merzbacher Disease

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Treatment Outcome

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Cord Blood Stem Cell Transplantation

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Follow-Up Studies

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Child, Preschool

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Infant

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Male

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Umbilical cord blood transplantation to treat Pelizaeus-Merzbacher Disease in 2 young boys.

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Journal article

duke.contributor.orcid

Page, Kristin|0000-0001-9670-8828

duke.contributor.orcid

Kurtzberg, Joanne|0000-0002-3370-0703

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e1451

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e1457

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5

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Duke

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School of Medicine

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Faculty

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Clinical Science Departments

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Institutes and Centers

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Pathology

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Pediatrics

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Radiology

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Pediatrics, Neonatology

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Radiology, Neuroradiology

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Duke Cancer Institute

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Institutes and Provost's Academic Units

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University Institutes and Centers

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Duke Institute for Brain Sciences

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Initiatives

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Duke Innovation & Entrepreneurship

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Pediatrics, Transplant and Cellular Therapy

pubs.publication-status

Published

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134

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