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@ARTICLE{Adang:270681,
      author       = {Adang, Laura A and Bonkowsky, Joshua L and Boelens, Jaap
                      Jan and Mallack, Eric and Ahrens-Nicklas, Rebecca and
                      Bernat, John A and Bley, Annette and Burton, Barbara and
                      Darling, Alejandra and Eichler, Florian and Eklund, Erik and
                      Emrick, Lisa and Escolar, Maria and Fatemi, Ali and Fraser,
                      Jamie L and Gaviglio, Amy and Keller, Stephanie and
                      Patterson, Marc C and Orchard, Paul and Orthmann-Murphy,
                      Jennifer and Santoro, Jonathan D and Schöls, Ludger and
                      Sevin, Caroline and Srivastava, Isha N and Rajan, Deepa and
                      Rubin, Jennifer P and Van Haren, Keith and Wasserstein,
                      Melissa and Zerem, Ayelet and Fumagalli, Francesca and
                      Laugwitz, Lucia and Vanderver, Adeline},
      title        = {{C}onsensus guidelines for the monitoring and management of
                      metachromatic leukodystrophy in the {U}nited {S}tates.},
      journal      = {Cytotherapy},
      volume       = {26},
      number       = {7},
      issn         = {1465-3249},
      address      = {Abingdon},
      publisher    = {Taylor $\&$ Francis Group},
      reportid     = {DZNE-2024-00853},
      pages        = {739 - 748},
      year         = {2024},
      abstract     = {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.},
      subtyp        = {Review Article},
      keywords     = {Humans / Infant, Newborn / Cerebroside-Sulfatase: genetics
                      / Consensus / Genetic Therapy: methods / Leukodystrophy,
                      Metachromatic: therapy / Leukodystrophy, Metachromatic:
                      diagnosis / Leukodystrophy, Metachromatic: genetics /
                      Neonatal Screening: methods / United States / gene therapy
                      (Other) / leukodystrophy (Other) / metachromatic
                      leukodystrophy (Other) / newborn screening (Other) /
                      transplant (Other) / Cerebroside-Sulfatase (NLM Chemicals)},
      cin          = {AG Schöls},
      ddc          = {610},
      cid          = {I:(DE-2719)5000005},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC11348704},
      pubmed       = {pmid:38613540},
      doi          = {10.1016/j.jcyt.2024.03.487},
      url          = {https://pub.dzne.de/record/270681},
}