Neurodevelopment in Rare Disorders Research

The Program for the Study of Neurodevelopment in Rare Disorders (NDRD) is committed to research that will further the understanding of rare neurodegenerative diseases with the goal of developing new treatments to help affected children live longer, healthier lives.

The research of the NDRD uses an interdisciplinary translational approach to answer key clinical questions. Among our protocols are:

  • Natural history studies to create baseline information about specific diseases
  • Brain imaging studies using the most advanced technologies available
  • Therapeutic interventional studies aimed at slowing or stopping the progression of these rare and debilitating diseases

Natural History Studies

A natural history study tracks the course of a disease over time in untreated patients. Rare diseases often have many forms, which differ in terms of age at onset, specific symptoms and their severity, and how rapidly the disease progresses. Identifying how the natural progression of rare neurodegenerative diseases affects the brain helps researchers evaluate the effectiveness of new treatments. Through an Institutional Review Board-approved longitudinal research study, the NDRD has developed a database containing detailed information from more than 600 evaluations of more than 325 patients with rare neurodegenerative disorders.

Brain Imaging Research

The Neuroimaging Research Program aims to develop new imaging technologies.

A core research initiative is the NDRD Neuroimaging Research Program, which aims to develop new imaging technologies that improve the understanding of early brain development and how it is affected by disease progression. The long-term outcomes for children with neurodegenerative diseases improve with early diagnosis and therapy. The NDRD neuroimaging team of clinicians, neuroradiologists, statisticians, and computer scientists is developing new stringent methodologies to analyze this complex data. The NDRD database has imaging data from more than 250 healthy children scanned as neonates and at 1, 2, 4, and 6 years of age. The database also includes over 300 scans of more than 160 children with genetic neurodegenerative diseases.

Treatment Studies

The Program for the Study of NDRD team works with pharmaceutical and biotech companies that are developing a diverse range of treatments for neurodegenerative diseases. Investigational treatments include enzyme replacement therapy, gene therapy, and umbilical cord blood transplantation. Correlating functional outcomes with neuroimaging findings with will guide the development and refinement of new treatments. The NDRD database contains over 1,000 detailed evaluations of more than 200 children who received umbilical cord stem cell transplantation.


Researchers

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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Additional Researchers

Michele Poe, PhD