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Newborn Screening for Hurler Syndrome Facilitates Early Transplant and Good Outcomes.
Pediatr Neurol
November 2024
Division of Pediatric Transplant and Cellular Therapy, Department of Pediatrics, Duke University, Durham, North Carolina.
Article Synopsis
- The study examines the outcomes of hematopoietic cell transplantation (HCT) in infants with Hurler syndrome (HS) diagnosed through newborn screening (NBS).
- Patients underwent a busulfan-based treatment regimen and umbilical cord blood HCT, showing promising results with no graft failures and recovery of enzyme levels.
- At follow-up, most patients were thriving and meeting developmental milestones, suggesting that NBS and early transplantation are effective in treating HS.
Hematopoietic cell transplantation for DOCK8 deficiency: Results from a prospective clinical trial.
J Allergy Clin Immunol
January 2025
Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Md.
Article Synopsis
- DOCK8 deficiency is a serious immunodeficiency that can only be treated effectively through allogeneic hematopoietic cell transplantation (HCT), which was tested in a clinical trial using a busulfan-based regimen for its effectiveness and safety.
- The trial involved 36 patients (mostly children and young adults) and aimed to see if HCT could improve their health and immune system within one year, with many achieving over 98% donor chimerism shortly after treatment.
- Results showed 80.6% of participants were alive without new complications after a median follow-up of 7.4 years, and the treatment was generally well-tolerated, although some experienced immune system
CNS-wide repopulation by hematopoietic-derived microglia-like cells corrects progranulin deficiency in mice.
Nat Commun
July 2024
Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Hematopoietic stem cell transplantation can deliver therapeutic proteins to the central nervous system (CNS) through transplant-derived microglia-like cells. However, current conditioning approaches result in low and slow engraftment of transplanted cells in the CNS. Here we optimized a brain conditioning regimen that leads to rapid, robust, and persistent microglia replacement without adverse effects on neurobehavior or hematopoiesis.
View Article and Find Full Text PDFHeterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC.
Cells
May 2024
Department of Pediatrics and Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.
Mucopolysaccharidosis III type C (MPS IIIC) is an untreatable neuropathic lysosomal storage disease caused by a genetic deficiency of the lysosomal N-acetyltransferase, HGSNAT, catalyzing a transmembrane acetylation of heparan sulfate. HGSNAT is a transmembrane enzyme incapable of free diffusion between the cells or their cross-correction, which limits development of therapies based on enzyme replacement and gene correction. Since our previous work identified neuroinflammation as a hallmark of the CNS pathology in MPS IIIC, we tested whether it can be corrected by replacement of activated brain microglia with neuroprotective macrophages/microglia derived from a heterologous HSPC transplant.
View Article and Find Full Text PDFGenetically corrected RAG2-SCID human hematopoietic stem cells restore V(D)J-recombinase and rescue lymphoid deficiency.
Blood Adv
April 2024
Division of Oncology, Hematology, Stem Cell Transplantation, Department of Pediatrics, Stanford University, Stanford, CA.
Recombination-activating genes (RAG1 and RAG2) are critical for lymphoid cell development and function by initiating the variable (V), diversity (D), and joining (J) (V(D)J)-recombination process to generate polyclonal lymphocytes with broad antigen specificity. The clinical manifestations of defective RAG1/2 genes range from immune dysregulation to severe combined immunodeficiencies (SCIDs), causing life-threatening infections and death early in life without hematopoietic cell transplantation (HCT). Despite improvements, haploidentical HCT without myeloablative conditioning carries a high risk of graft failure and incomplete immune reconstitution.
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