Browsing by Author "Wood, Susan"

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    Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network.
    (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation, 2019-12) Page, Kristin M; Stenger, Elizabeth O; Connelly, James A; Shyr, David; West, Tara; Wood, Susan; Case, Laura; Kester, Maureen; Shim, Soo; Hammond, Lauren; Hammond, Matthew; Webb, Christin; Biffi, Alessandra; Bambach, Barbara; Fatemi, Ali; Kurtzberg, Joanne
    The leukodystrophies are a heterogeneous group of inherited diseases characterized by progressive demyelination of the central nervous system leading to devastating neurologic symptoms and premature death. Hematopoietic stem cell transplantation (HSCT) has been successfully used to treat certain leukodystrophies, including adrenoleukodystrophy, globoid leukodystrophy (Krabbe disease), and metachromatic leukodystrophy, over the past 30 years. To date, these complex patients have primarily been transplanted at a limited number of pediatric centers. As the number of cases identified through pregnancy and newborn screening is increasing, additional centers will be required to treat these children. Hunter's Hope created the Leukodystrophy Care Network in part to create and standardize high-quality clinical practice guidelines to guide the care of affected patients. In this report the clinical guidelines for the care of pediatric patients with leukodystrophies undergoing treatment with HSCT are presented. The initial transplant evaluation, determination of patient eligibility, donor selection, conditioning, supportive care, and post-transplant follow-up are discussed. Throughout these guidelines the need for early detection and treatment and the role of the partnership between families and multidisciplinary providers are emphasized.
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    Long-Term Functional Outcomes following Hematopoietic Stem Cell Transplant for Early Infantile Krabbe Disease.
    (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation, 2018-06-19) Allewelt, Heather; Taskindoust, Mahsa; Troy, Jesse; Page, Kristin; Wood, Susan; Parikh, Suhag; Prasad, Vinod K; Kurtzberg, Joanne
    Allogeneic hematopoietic stem cell transplantation (HSCT) can retard the progression of early infantile Krabbe disease (EIKD). Superior outcomes are achieved if HSCT is performed prior to the onset of symptoms, however little information is available about the long-term outcomes in surviving patients. We now describe functional outcomes in pre-symptomatic infants who underwent HSCT for EIKD at ≤2 months of life. Records of the 19 patients who underwent HSCT for EIKD at ≤2 months of age from 1996-2010 were reviewed. Long-term functional outcomes were compared between those transplanted at <30 days and ≥30 days of life. Median age at transplant was 27 days (range 19-61). Median follow-up of the cohort was 12.6 years. Overall survival at 5 and 10 years post-transplant was 84.2% (95% CI:58.7-94.6%) and 78.6% (95% CI:52.5-91.4%), respectively. More favorable outcomes were seen in patients who underwent HSCT at <30 days of age, particularly in domains of mobility (p=0.01), communication (p=0.02), and feeding (p=0.008). Improved functional outcomes were observed when HSCT was performed in the first month of life, defining a critical period for intervention. These results support the implementation of newborn screening to enable rapid diagnosis and early treatment of infants with EIKD.
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    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, Joanne
    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.