Browsing by Author "Lund, Troy C"

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    Consensus opinion on immune-mediated cytopenias after hematopoietic cell transplant for inherited metabolic disorders.
    (Bone marrow transplantation, 2021-06) Gupta, Ashish O; Jan Boelens, Jaap; Ebens, Christen L; Kurtzberg, Joanne; Lund, Troy C; Smith, Angela R; Wagner, John E; Wynn, Robert; Blazar, Bruce R; Orchard, Paul J
    Hematopoietic stem cell transplantation (HCT) has been increasingly used for patients with inherited metabolic disorders (IMD). Immune mediated cytopenias (IMCs) after HCT, manifesting as hemolytic anemia, thrombocytopenia, and/or neutropenia, are recognized as a significant complication in this patient population, yet our understanding of the incidence, risk factors, and pathophysiology is currently limited. Review of the published literature demonstrates a higher incidence in younger patients who undergo HCT for a nonmalignant disease indication. However, a few reports suggest that the incidence is even higher among those with IMD (incidence ranging from 10 to 56%). This review summarizes the literature, provides an approach to better understanding of the possible etiology of IMCs, and proposes a diagnostic and management plan for patients with IMD who develop single or multi-lineage cytopenias after HCT.
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    MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
    (Journal of inherited metabolic disease, 2021-05) Mallack, Eric J; Turk, Bela R; Yan, Helena; Price, Carrie; Demetres, Michelle; Moser, Ann B; Becker, Catherine; Hollandsworth, Kim; Adang, Laura; Vanderver, Adeline; Van Haren, Keith; Ruzhnikov, Maura; Kurtzberg, Joanne; Maegawa, Gustavo; Orchard, Paul J; Lund, Troy C; Raymond, Gerald V; Regelmann, Molly; Orsini, Joseph J; Seeger, Elisa; Kemp, Stephan; Eichler, Florian; Fatemi, Ali

    Background

    Among boys with X-Linked adrenoleukodystrophy, a subset will develop childhood cerebral adrenoleukodystrophy (CCALD). CCALD is typically lethal without hematopoietic stem cell transplant before or soon after symptom onset. We sought to establish evidence-based guidelines detailing the neuroimaging surveillance of boys with neurologically asymptomatic adrenoleukodystrophy.

    Methods

    To establish the most frequent age and diagnostic neuroimaging modality for CCALD, we completed a meta-analysis of relevant studies published between January 1, 1970 and September 10, 2019. We used the consensus development conference method to incorporate the resulting data into guidelines to inform the timing and techniques for neuroimaging surveillance. Final guideline agreement was defined as >80% consensus.

    Results

    One hundred twenty-three studies met inclusion criteria yielding 1285 patients. The overall mean age of CCALD diagnosis is 7.91 years old. The median age of CCALD diagnosis calculated from individual patient data is 7.0 years old (IQR: 6.0-9.5, n = 349). Ninety percent of patients were diagnosed between 3 and 12. Conventional MRI was most frequently reported, comprised most often of T2-weighted and contrast-enhanced T1-weighted MRI. The expert panel achieved 95.7% consensus on the following surveillance parameters: (a) Obtain an MRI between 12 and 18 months old. (b) Obtain a second MRI 1 year after baseline. (c) Between 3 and 12 years old, obtain a contrast-enhanced MRI every 6 months. (d) After 12 years, obtain an annual MRI.

    Conclusion

    Boys with adrenoleukodystrophy identified early in life should be monitored with serial brain MRIs during the period of highest risk for conversion to CCALD.
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    Outcomes after hematopoietic stem cell transplantation for children with I-cell disease.
    (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation, 2014-11) Lund, Troy C; Cathey, Sara S; Miller, Weston P; Eapen, Mary; Andreansky, Martin; Dvorak, Christopher C; Davis, Jeffrey H; Dalal, Jignesh D; Devine, Steven M; Eames, Gretchen M; Ferguson, William S; Giller, Roger H; He, Wensheng; Kurtzberg, Joanne; Krance, Robert; Katsanis, Emmanuel; Lewis, Victor A; Sahdev, Indira; Orchard, Paul J
    Mucolipidosis type II (MLII), or I-cell disease, is a rare but severe disorder affecting localization of enzymes to the lysosome, generally resulting in death before the 10th birthday. Although hematopoietic stem cell transplantation (HSCT) has been used to successfully treat some lysosomal storage diseases, only 2 cases have been reported on the use of HSCT to treat MLII. For the first time, we describe the combined international experience in the use of HSCT for MLII in 22 patients. Although 95% of the patients engrafted, overall survival was low, with only 6 patients (27%) alive at last follow-up. The most common cause of death post-transplant was cardiovascular complications, most likely due to disease progression. Survivors were globally delayed in development and often required complex medical support, such as gastrostomy tubes for nutrition and tracheostomy with mechanical ventilation. Although HSCT has demonstrated efficacy in treating some lysosomal storage disorders, the neurologic outcome and survival for patents with MLII were poor. Therefore, new medical and cellular therapies should be sought for these patients.