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You are here: Home > Research > Neurodevelopmental outcomes of children with leukodystrophies and mucopolysaccharidosis

Neurodevelopmental outcomes of children with leukodystrophies and mucopolysaccharidosis after unrelated umbilical cord blood transplantation

Currently there are only two therapies able to drastically improve outcomes in leukodystrophies and mucopolysaccharidosis (MPS): enzyme replacement therapy and umbilical cord blood transplantation (UCBT). Enzyme replacement therapy is an option for some patients with MPS I (Hurler syndrome) and MPS II (Hunter syndrome). However, enzyme replacement therapy addresses only “somatic” symptoms, such as joint mobility, lung function, liver volume, and growth. The enzyme cannot enter the brain, so cognitive function is not improved (Wang et al., 2011, Valayannopoulos and Wijburg, 2011). This leads to rapid cognitive decline with death occuring by age 20. On the other hand, early treatment with UCBT can improve both cognition and somatic symptoms in MPS I, Krabbe disease, metachromatic leukodystrophy, and adrenoleukodystrophy (Prasad et al., 2008).

The NDRD is committed to improving long-term outcomes for children with neurodegenerative diseases. For that reason we ask the family of every patient who has undergone UCBT at any institution to consider participating in our longitudinal study of neurodevelopmental outcomes in children with leukodystrophies and MPS after UCBT. Because these diseases are rare, it is important that we use all the information available to learn more about treating these diseases.

At the patient’s clinical appointment, families have the opportunity to discuss this research and their possible participation with the clinician. This research study uses only the data that is already collected during the patient’s evaluation and treatment. No additional tests or examinations are needed. Personal information is kept confidential. No one outside of the NDRD research and clinical team will have access to any information that can be used to identify the patient.

The information gathered from this study will help us better understand the successes and weaknesses of UCBT so that we can develop additional treatments that may improve long-term outcomes. Other companies and researchers will also use this information to guide the development of new treatments.

PRASAD, V. K., MENDIZABAL, A., PARIKH, S. H., SZABOLCS, P., DRISCOLL, T. A., PAGE, K., LAKSHMINARAYANAN, S., ALLISON, J., WOOD, S., SEMMEL, D., ESCOLAR, M. L., MARTIN, P. L., CARTER, S. & KURTZBERG, J. 2008. Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes. Blood, 112, 2979-89.
VALAYANNOPOULOS, V. & WIJBURG, F. A. 2011. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford), 50 Suppl 5, v49-59.
WANG, R. Y., BODAMER, O. A., WATSON, M. S. & WILCOX, W. R. 2011. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med, 13, 457-84.