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


Gaucher Disease Treatment with LY3884961: The PROVIDE Study – Phase I/II

Study to Evaluate the Safety and Efficacy of Single-dose LY3884961 in Infants with Type 2 Gaucher Disease

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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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MPS II Biomarkers Study

Study of Potential Treatment-Responsive Biomarkers in 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 – Long-Term Observation

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

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MPS II Treatment with RGX-121: The CAMPSIITE™ Study – 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 IIIA Treatment with ABO-102 – Phase I/II

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

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Neurodegenerative Disorders Study

Longitudinal Investigation of Neurodegenerative Disorders in Children

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*Original research initiated by investigators at UPMC Children’s Hospital of Pittsburgh.