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This program creates a database about treatment of patients with lysosomal storage disorders, such as Gaucher disease, Fabry disease, Pompe disease, and Mucopolysaccharidosis Type I (MPS I), also known as Hurler syndrome. By placing medical record information of many patients into a database registry for analysis, researchers hope to better understand the variability, progression and natural history of these disorders, with the ultimate goal of better guiding and assessing therapeutic interventions.
This study is accepting males and females of all ages who are being seen at Children’s Hospital of Pittsburgh of UPMC.
Males and Females: All ages
Participation entails granting permission to have past, current and future medical record information placed into the database.
Visits: Not applicable
Duration: Not applicable
Medical Genetics Research
David Finegold, MD
For more information about the study or enrollment, please contact:
Nadene Henderson, MS, CGC
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.