Neurodevelopment in Rare Disorders Clinical Studies

The Neurodevelopment in Rare Disorders (NDRD) team is currently conducting research on several diseases – disorders so rare, few physicians ever encounter them in their own practices.

Every patient is important in rare disease research. New and improved treatments are being advanced that may change outcomes for children and families living with these disorders. Participation in a research study can make an important difference in improving care for future generations.

All patients who participate in any of the research studies receive full clinical care and the benefit of the NDRD team’s experience, gained from evaluating hundreds of children with neurodegenerative diseases.

Some of the research opportunities related to NDRD are listed below. Select a study to review a brief description. Parents or guardians of children who might be eligible are encouraged to inquire about enrollment. Contact information is listed at the end of each study.

Clinical Studies

Researchers

Krabbe Disease and Motor Impairment Identification Using MRI

DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment

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Krabbe Disease Progression Study

The Natural History of Infantile Globoid Cell Leukodystrophy

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Metachromatic Leukodystrophy Progression Study

Natural History Study of Children with Metachromatic Leukodystrophy

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Neurodegenerative Disorders Study

Longitudinal Investigation of Neurodegenerative Disorders in Children

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Sanfilippo B Syndrome Treatment with SBC-103 – Phase I/II

Study of Pediatric Patients with MPS IIIB to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously

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Maria L. Escolar, MD, MS

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Michele D. Poe, PhD

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Tara L West, RN, MSN, CPNP

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