The NDRD research team uses an interdisciplinary translational approach to answer clinical questions. Our main goal is to improve the quality of life for children with rare neurodegenerative conditions.

An important challenge in treating infants with neurodegenerative diseases is determining the child's development after treatment. Because these are neurologically progressing diseases, any damage occurring before treatment is irreversible. Using information from hundreds of patients who have been evaluated by the NDRD, we study how pretreatment neurophysiologic condition of the patient effects the long-term development of the patient.

The NDRD research team also performs natural history studies which uses the information collected from patients who have not received treatment to map the neurobehavioral development and progression of the disease. These studies are essential for understanding the effects of any treatment. We have published 6 studies on the Natural History including Sanfilippo A, Hurler's (MPS I), Hunter's (MPS II) and Krabbe disease.

Projects

• The Krabbe Translational Research Network
• Neuroimaging
• Clinical Trial of Fosmetpantotenate (RE-024)as a treatment for PKAN
• Randomized Study of Single vs. Multiple Privigen Dose Regimens in Pediatric CIDP
• A Phase I/II Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of RGX-121 in Pediatric Subjects with MPS II (Hunter Syndrome)
• Protocol for the Assessment for Neurodevelopment in Infants (PANDI)
• Neurodevelopmental outcomes of children with leukodystrophies and mucopolysaccharidosis after unrelated umbilical cord blood transplantation.
• Longitudinal study of neurodegenerative disorders