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

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.

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Citation

Published Version (Please cite this version)

10.1542/peds.2013-3604

Publication Info

Wishnew, Jessica, Kristin Page, Susan Wood, Leo Galvin, James Provenzale, Maria Escolar, Kathryn Gustafson, Joanne Kurtzberg, et al. (2014). Umbilical cord blood transplantation to treat Pelizaeus-Merzbacher Disease in 2 young boys. Pediatrics, 134(5). pp. e1451–e1457. 10.1542/peds.2013-3604 Retrieved from https://hdl.handle.net/10161/24711.

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Scholars@Duke

Gustafson

Kathryn E. Gustafson

Professor in Psychiatry and Behavioral Sciences

My scholarly interests and expertise are in pediatric neurodevelopmental outcomes assessment and research as well as child and parent coping with chronic childhood illness. I collaborated with Dr. Robert Thompson on a research program investigating the transactional biopsychosocial model of adaptation to pediatric conditions in children and families. Our research program was funded by the NIH and culminated in the publication of our book, Adaptation to Chronic Childhood Illness. In addition, because of my expertise in neurodevelopmental functioning, I collaborate with the Division of Neonatology and the Duke Neonatal-Perinatal Research Unit on neurodevelopmental outcomes research with high-risk infants, toddlers, and school-age children. I am a gold standard psychology consultant to the Neonatal Research Network (NRN) of the NIH/NICHD, train and certify psychologists around the country in infant and toddler developmental assessment, and serve as consultant for protocol development.  In addition, I collaborate with colleagues in Pediatric Ophthalmology to investigate preterm optic nerve anatomy assessed via optical coherence tomography imaging and the association with neurodevelopment. I am also involved in investigations of umbilical cord blood stem cell transplant for young children with hypoxic ischemic encephalopathy, cerebral palsy, and inborn errors of metabolism with colleagues in the Blood and Marrow Transplantation program.


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