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For more information about research, please call our main office at 412-692-6438.
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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.
To make an appointment or inquire about the program, please call 412-692-6350.
Randomized Study of Single vs. Multiple Privigen Dose Regimens in Pediatric CIDP
Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants with Type 2 Gaucher Disease
DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment
The Natural History of Infantile Globoid Cell Leukodystrophy
Study of Intravenous Gene Transfer with an AAVrh10 Vector Expressing GALC in Krabbe Subjects Receiving Hematopoietic Stem Cell Transplantation
Natural History Study of Children with Metachromatic Leukodystrophy
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
A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects with Severe Mucopolysaccharidosis Type II (Hunter Syndrome)
Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of RGX-121 in Pediatric Subjects with MPS II (Hunter Syndrome)
A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-121
Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA
Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients with Middle and Advanced Phases of MPS IIIA Disease
Longitudinal Investigation of Neurodegenerative Disorders in Children
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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