Lysosomal Disorders Registry

Protocol Description

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.

Eligibility Criteria

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

Status: Enrolling by Invitation

Source(s) of Support


Additional Information

Genetic and Genomic Medicine Research

Primary Investigator

Damara Ortiz, MD

Contact Information

For more information about the study or enrollment, please contact:
Nadene Henderson, MS, CGC
412-692- 3475