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Lysosomal Storage Disease Registry
This study is now recruiting.
This research study is called the Lysosomal Storage Disease Registries. A registry is a database that gathers information about people and their medical treatment. This observational registry is supported by Genzyme Corporation. The goal is to collect information on people with Gaucher, Fabry, MPS I, or Pompe disease. The information might be used for many different research studies about Lysosomal Storage Diseases. It is hoped that healthcare professionals can use this information to better understand these diseases. We expect these registries will continue for a number of years.
Who Do I Contact?
If you are interested in participating in the study or want to learn more please contact our study team at MetabolismResearch [at] chop.edu or 215-590-3376.
Visit Criteria
If you agree to take part in this research study, we will collect information from your medical history about your treatment and clinical care, such as blood and urine laboratory results, medications, genetic testing results, x-rays, MRIs, developmental tests, quality of life questionnaires. You will be asked to fill out quality-of-life questionnaires every 6-12 months. These questionnaires will be administered as long as you continue to participate in the study. This study is observational only. This means that no experimental procedures are involved. We will only collect information about procedures, lab test results, and other medical information that happen as part of your normal care.
Leader
