Browsing by Author "Provenzale, James"
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Item Open Access Benefits of Newborn Screening and Hematopoietic Cell Transplant in Infantile Krabbe Disease.(Blood advances, 2022-01-18) Page, Kristin M; Ream, Margie A; Rangarajan, Hemalatha G; Galindo, Rafael; Mian, Ali Y; Ho, Mai-Lan; Provenzale, James; Gustafson, Kathryn E; Rubin, Jennifer; Shenoy, Shalini; Kurtzberg, JoanneInfantile Krabbe Disease (IKD) can be treated with hematopoietic cell transplantation (HCT) if done during the first weeks of life before symptoms develop. To facilitate this, newborn screening (NBS) has been instituted in eight U.S. states. An application to add KD to the Recommended NBS Panel (RUSP) is currently under review. In this report, the outcomes of newborns with IKD diagnosed through NBS and treated with HCT are presented. The unique challenges associated with NBS for this disease are discussed including opportunities for earlier diagnosis and streamlining treatment referrals. This is a retrospective review of infants with IKD detected by NBS and referred for HCT. The timing from diagnosis to HCT were examined and both HCT and neurodevelopmental outcomes are described. Six infants were diagnosed and referred for HCT. Neurologic testing before HCT revealed evidence of active IKD in all infants. All underwent HCT between 24-40 days of age, successfully engrafted, and are alive 30-58 months later (median, 47.5 months). All are gaining developmental milestones albeit at a slower pace than unaffected age-matched peers. Gross motor function is most notably affected. NBS for these patients enabled early access to HCT, the only currently available treatment for infants with IKD. All children are alive and have derived developmental and neurologic benefits from timely HCT. Long-term follow up is ongoing. Optimization of HCT and further development of emerging therapies, all of which must be delivered early in life, are expected to further improve outcomes of infants with IKD.Item Open Access Umbilical cord blood transplantation to treat Pelizaeus-Merzbacher Disease in 2 young boys.(Pediatrics, 2014-11) Wishnew, Jessica; Page, Kristin; Wood, Susan; Galvin, Leo; Provenzale, James; Escolar, Maria; Gustafson, Kathryn; Kurtzberg, JoannePelizaeus-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.