Program for the Study of Neurodevelopment in Rare Disorders (NDRD)

Read the video transcript.

The Program for the Study of Neurodevelopment in Rare Disorders (NDRD) is committed to helping families search for answers surrounding their children’s rare neurodegenerative conditions. Our goal is to improve the quality of life for children with these disorders to help them achieve their full potential. We do this through education, innovative research, and clinical interventions, including medication management behavioral and communications support techniques, adaptive equipment, and novel interventions.

Led by Maria Escolar, MD, the program was started in 2000 to improve our understanding of these genetic neurodegenerative diseases. Its multidisciplinary approach focuses on the interactions of genes, the brain, and behavior and their effects on child development. Over the years, Dr. Escolar and her team have performed thousands of standardized evaluations on children from throughout the United States and around the world, resulting in unparalleled insights into these rare conditions.

This experience, combined with ongoing clinical research, provides the expertise to assess the multisystem needs of patients and to plan appropriate management, therapies, and palliative care when needed. Children seen through the NDRD program receive comprehensive evaluations, including physical and neurological exams, medical imaging, nutrition and feeding assessments, and other tests, followed by treatment plans that are individualized to their unique needs.

Additionally, the team consults with local health care providers and educators to assist them in providing care to children with these rare diseases. Importantly, the NDRD program is committed to training investigators and clinicians in the diagnosis and comprehensive management of these disorders and building greater awareness throughout the general population and scientific community

Learn more with these resources and downloads. 

Referral Requirements

To make an appointment or inquire about the program, please call 412-692-6350 or email

Additional Information



Clinical Studies

  • Program for the Study of Neurodevelopment in Rare Disorders (NDRD)

    UPMC Children's Hospital of Pittsburgh
    4401 Penn Ave
    Floor 4
    Pittsburgh, PA 15224
  • 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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    Neurodegenerative Disorders Study

    Longitudinal Investigation of Neurodegenerative Disorders in Children

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