14800-DvRappard

41 Metachromatic leukodystrophy: disease spectrum and approaches for treatment 2 Table 1. Outcome after treatment Study Number of patients Infantile MLD Juvenile MLD Adult MLD Presymptomatic Symptomatic Type of intervention Clinical Outcome MRI Survival Follow up van Egmond (2013) 1 1 1 UCBT Improving motor+ behavioral functions, stable cognition Improvement white matter abnormalities 1/1 27 months Krageloh-Mann (2012) 1 1 1 HSCT Stable cognitive function, progression neuropathy 16m post HSCT: increase white matter abnormalities, 24 months post: scores similar to pre HSCT 1/1 10 years Hosson (2011) 5 5 5 HSCT Continious deterioration ( N =4) and stabilization ( N =1) Stable ( N =1). Progression white matter abnormalities ( N =4). 4/5 9 years Ding (2011) 1 1 1 HSCT No MLD symptoms Halt of demyelinization + progress of myelination 1/1 8 years Smith (2010) 1 1 1 HSCT Cognitive decline Persistent abnormalities+ progressive volume loss 1/1 11 years Meuleman (2008) 1 1 1 HSCT with MSC infusion Stabilization of neurological symptoms Stable cerebral lesions 1/1 40 months Bredius (2007) 1 1 1 HSCT Continious deterioration Progression of white matter abnormalities 1/1 2 years Martin (2013) 27 10 17 8 19 UCBT Asymptomatic children:stabilization. Symptomatic:deterioration Improvement in LOES scores in 16/19 patients 20/27 5.1 years Cable (2011) 3 3 2 1 UCBT Symptomatic child:worsening. Other 2:stabilization Progression of white matter abnormalities ( N =1). Resolvement of white matter abnormalities 1 year post HSCT ( N =2) 3/3 5 years Biffi (2013) 3 3 3 HSC gene therapy Halt of disease manifestation Stable small area of hyperintensity (N =2). Normal myelination progression ( N =1). 3/3 18-24 months