Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
Por:
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L and Vanderver A
Publicada:
1 jul 2024
Ahead of Print:
1 jun 2024
Resumen:
Metachromatic leukodystrophy (MLD) is a fatal, progressive neurodegenerative disorder caused by biallelic pathogenic mutations in the ARSA (Arylsulfatase A) gene. With the advent of presymptomatic diagnosis and the availability of therapies with a narrow window for intervention, it is critical to define a standardized approach to diagnosis, presymptomatic monitoring, and clinical care. To meet the needs of the MLD community, a panel of MLD experts was established to develop disease -specific guidelines based on healthcare resources in the United States. This group developed a consensus opinion for best -practice recommendations, as follows: (i) Diagnosis should include both genetic and biochemical testing; (ii) Early diagnosis and treatment for MLD is associated with improved clinical outcomes; (iii) The panel supported the development of newborn screening to accelerate the time to diagnosis and treatment; (iv) Clinical management of MLD should include specialists familiar with the disease who are able to follow patients longitudinally; (v) In early onset MLD, including late infantile and early juvenile subtypes, ex vivo gene therapy should be considered for presymptomatic patients where available; (vi) In late -onset MLD, including late juvenile and adult subtypes, hematopoietic cell transplant (HCT) should be considered for patients with no or minimal disease involvement. This document summarizes current guidance on the presymptomatic monitoring of children affected by MLD as well as the clinical management of symptomatic patients. Future data -driven evidence and evolution of these recommendations will be important to stratify clinical treatment options and improve clinical care. (c) 2024 International Society for Cell & Gene Therapy. Published by Elsevier Inc. All rights reserved.
Filiaciones:
Adang LA:
Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Bonkowsky JL:
University of Utah, Salt Lake City, Utah, USA
Boelens JJ:
Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies, Memorial Sloan Kettering Cancer Center, Weill Cornell Medical College of Cornell University, New York, New York, USA
Mallack E:
Kennedy Krieger Institute, Baltimore, Maryland, USA
Ahrens-Nicklas R:
Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
Bernat JA:
University of Iowa Stead Family Children's Hospital, Iowa City, Iowa, USA
Bley A:
University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
Burton B:
Lurie Children's Hospital of Chicago, Chicago, Illinois, USA
Darling A:
Hospital Sant Joan de Déu, Barcelona, Spain
Eichler F:
Massachusetts General Hospital, Boston, Massachusetts, USA
Eklund E:
Lund University, Lund, Sweden
Emrick L:
Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA
Escolar M:
Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
Forge Biologics, Grove City, Ohio, USA
Fatemi A:
Kennedy Krieger Institute, Baltimore, Maryland, USA
Fraser JL:
Children's National Hospital, Washington, District of Columbia, USA
Gaviglio A:
Division of Laboratory Services, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Association of Public Health Laboratories, Silver Spring, Maryland, USA
Keller S:
Children's Healthcare of Atlanta, Atlanta, Georgia, USA
Patterson MC:
Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA
Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
Orchard P:
University of Minnesota, Minneapolis, Minnesota, USA
Orthmann-Murphy J:
Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Santoro JD:
University of Southern California, Children's Hospital Los Angeles, Keck School of Medicine, Los Angeles, California, USA
Schöls L:
Department of Neurology and Hertie-Institute for Clinical Brain Research German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany
Sevin C:
Université Paris-Saclay, Hôpital Bicêtre, Paris, France
Srivastava IN:
Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California, USA
Rajan D:
University of Pittsburgh, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA
Rubin JP:
Lurie Children's Hospital of Chicago, Chicago, Illinois, USA
Van Haren K:
Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California, USA
Wasserstein M:
Department of Pediatrics, Albert Einstein College of Medicine and the Children's Hospital at Montefiore, Bronx, New York, USA
Zerem A:
Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Fumagalli F:
Ospedale San Raffaele, Milano, Italy
Laugwitz L:
Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, Tübingen, Germany
Vanderver A:
Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Green Submitted
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