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


CIDP Treatment with Privigen – Phase IV

Randomized Study of Single vs. Multiple Privigen Dose Regimens in Pediatric CIDP

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Gaucher Disease Treatment with PR001A: The PROVIDE Study – Phase I/II

Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants with Type 2 Gaucher Disease

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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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Krabbe Disease Treatment with FBX-101 Gene Transfer Therapy: The RESKUE Study – Phase I/II

Study of Intravenous Gene Transfer with an AAVrh10 Vector Expressing GALC in Krabbe Subjects Receiving Hematopoietic Stem Cell Transplantation

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Late Infantile Metachromatic Leukodystrophy Treatment with Intrathecal SHP611 – Phase II

Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy

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Metachromatic Leukodystrophy Progression Study

Natural History Study of Children with Metachromatic Leukodystrophy

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MPS II Biomarkers Study

Study of Potential Treatment-Responsive Biomarkers in Hunter Syndrome

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MPS II (Hunter Syndrome) Treatment with Idursulfase-IT and Elaprase – Phase I/II

Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase® in Pediatric Patients with Hunter Syndrome and Cognitive Impairment

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MPS II Natural History Study

A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects with Severe Mucopolysaccharidosis Type II (Hunter Syndrome)

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MPS II Treatment with DNL310 – Phase I/II

Study to Determine the Safety, Pharmacokinetics, and Pharmacodynamics of DNL310 in Pediatric Subjects with Hunter Syndrome

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MPS II Treatment with RGX-121 – Phase I/II

Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of RGX-121 in Pediatric Subjects with MPS II (Hunter Syndrome)

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MPS II Treatment with RGX-121 – Long-Term Observation

A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-121

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MPS IIIA Treatment with ABO-102 – Phase I/II

Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA

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MPS IIIA Treatment with ABO-102 for Middle and Advanced Disease Stages – Phase I/II

Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients with Middle and Advanced Phases of MPS IIIA Disease

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Neurodegenerative Disorders Study

Longitudinal Investigation of Neurodegenerative Disorders in Children

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