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The purpose of the study is to understand more about rare neurodegenerative disorders in children by creating a comprehensive record with clinical and biological information about infants and children diagnosed with these conditions. Data bank studies such as these are designed to obtain new knowledge that may help other people in the future. Through this study, researchers will collect medical history information along with excess fluids or tissue samples obtained during routine procedures, which will be stored for future research on neurodegenerative disorders.
This study is open to children who have been diagnosed with a neurodegenerative disorder and who are being seen by physicians at Children’s Hospital of Pittsburgh of UPMC.
Boys and Girls: All ages
Participation involves the collection of medical record information and biological specimens such as blood, urine, cerebrospinal fluid, and tissue, when taken during the course of routine procedures. Parents/guardians of participants who are not seen within a 12-month period will be contacted by phone to complete a questionnaire about the child’s functioning and behavior.
Visits: None beyond routine visits
Maria L. Escolar, MD, MS
For more information about the study or enrollment, please contact:
Program Coordinator Mary Brannaman, MPA, BS
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
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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Interested in giving to Children's Hospital? Visit Children's Hospital of Pittsburgh Foundation's website to make a donation online.