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000270681 1001_ $$aAdang, Laura A$$b0
000270681 245__ $$aConsensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
000270681 260__ $$aAbingdon$$bTaylor & Francis Group$$c2024
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000270681 520__ $$aMetachromatic leukodystrophy (MLD) is a fatal, progressive neurodegenerative disorder caused by biallelic pathogenic mutations in the ARSA (Arylsulfatase A) gene. With the advent of presymptomatic diagnosis and the availability of therapies with a narrow window for intervention, it is critical to define a standardized approach to diagnosis, presymptomatic monitoring, and clinical care. To meet the needs of the MLD community, a panel of MLD experts was established to develop disease-specific guidelines based on healthcare resources in the United States. This group developed a consensus opinion for best-practice recommendations, as follows: (i) Diagnosis should include both genetic and biochemical testing; (ii) Early diagnosis and treatment for MLD is associated with improved clinical outcomes; (iii) The panel supported the development of newborn screening to accelerate the time to diagnosis and treatment; (iv) Clinical management of MLD should include specialists familiar with the disease who are able to follow patients longitudinally; (v) In early onset MLD, including late infantile and early juvenile subtypes, ex vivo gene therapy should be considered for presymptomatic patients where available; (vi) In late-onset MLD, including late juvenile and adult subtypes, hematopoietic cell transplant (HCT) should be considered for patients with no or minimal disease involvement. This document summarizes current guidance on the presymptomatic monitoring of children affected by MLD as well as the clinical management of symptomatic patients. Future data-driven evidence and evolution of these recommendations will be important to stratify clinical treatment options and improve clinical care.
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000270681 650_7 $$2Other$$agene therapy
000270681 650_7 $$2Other$$aleukodystrophy
000270681 650_7 $$2Other$$ametachromatic leukodystrophy
000270681 650_7 $$2Other$$anewborn screening
000270681 650_7 $$2Other$$atransplant
000270681 650_7 $$0EC 3.1.6.8$$2NLM Chemicals$$aCerebroside-Sulfatase
000270681 650_2 $$2MeSH$$aHumans
000270681 650_2 $$2MeSH$$aInfant, Newborn
000270681 650_2 $$2MeSH$$aCerebroside-Sulfatase: genetics
000270681 650_2 $$2MeSH$$aConsensus
000270681 650_2 $$2MeSH$$aGenetic Therapy: methods
000270681 650_2 $$2MeSH$$aLeukodystrophy, Metachromatic: therapy
000270681 650_2 $$2MeSH$$aLeukodystrophy, Metachromatic: diagnosis
000270681 650_2 $$2MeSH$$aLeukodystrophy, Metachromatic: genetics
000270681 650_2 $$2MeSH$$aNeonatal Screening: methods
000270681 650_2 $$2MeSH$$aUnited States
000270681 7001_ $$aBonkowsky, Joshua L$$b1
000270681 7001_ $$aBoelens, Jaap Jan$$b2
000270681 7001_ $$aMallack, Eric$$b3
000270681 7001_ $$aAhrens-Nicklas, Rebecca$$b4
000270681 7001_ $$aBernat, John A$$b5
000270681 7001_ $$aBley, Annette$$b6
000270681 7001_ $$aBurton, Barbara$$b7
000270681 7001_ $$aDarling, Alejandra$$b8
000270681 7001_ $$aEichler, Florian$$b9
000270681 7001_ $$aEklund, Erik$$b10
000270681 7001_ $$aEmrick, Lisa$$b11
000270681 7001_ $$aEscolar, Maria$$b12
000270681 7001_ $$aFatemi, Ali$$b13
000270681 7001_ $$aFraser, Jamie L$$b14
000270681 7001_ $$aGaviglio, Amy$$b15
000270681 7001_ $$aKeller, Stephanie$$b16
000270681 7001_ $$aPatterson, Marc C$$b17
000270681 7001_ $$aOrchard, Paul$$b18
000270681 7001_ $$aOrthmann-Murphy, Jennifer$$b19
000270681 7001_ $$aSantoro, Jonathan D$$b20
000270681 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b21$$udzne
000270681 7001_ $$aSevin, Caroline$$b22
000270681 7001_ $$aSrivastava, Isha N$$b23
000270681 7001_ $$aRajan, Deepa$$b24
000270681 7001_ $$aRubin, Jennifer P$$b25
000270681 7001_ $$aVan Haren, Keith$$b26
000270681 7001_ $$aWasserstein, Melissa$$b27
000270681 7001_ $$aZerem, Ayelet$$b28
000270681 7001_ $$aFumagalli, Francesca$$b29
000270681 7001_ $$aLaugwitz, Lucia$$b30
000270681 7001_ $$aVanderver, Adeline$$b31
000270681 773__ $$0PERI:(DE-600)2071176-1$$a10.1016/j.jcyt.2024.03.487$$gVol. 26, no. 7, p. 739 - 748$$n7$$p739 - 748$$tCytotherapy$$v26$$x1465-3249$$y2024
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