Neurodegenerative Disorders Study

Longitudinal Investigation of Neurodegenerative Disorders in Children

Protocol Description

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.

Eligibility Criteria

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
Duration: Open-ended

Status: Open for Enrollment

Primary Investigator

Jerry Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Brie Yanniello, NDRD Program Coordinator