Vanderbilt Kennedy Center

Lysosomal Storage Disease (LSD) Registry

Last Updated: Monday, November 18, 2013

Principal Investigator: John Phillips III, M.D.

Other researchers: Thomas Morgan, MD

Description

Lysosomal enzymes help get rid of unwanted materials in your cells. If you have been diagnosed with mucopolysaccharide storage disorder type 1 (MPS-1), Gaucher, Fabry, or Pompe disease you can be in this registry. We want to make a registry that will let doctors study questions about lysosomal storage diseases.

There are 4 registries for lysosomal storage diseases: the MPSI registry, the Gaucher registry, the Fabry registry, and the Pompe registry. The Genzyme Registries are open to all people with these diseases, regardless of whether you are receiving treatment and regardless of the type of treatment. The Genzyme Registries are sponsored and administered by Genzyme Corporation, a Sanofi company.

What is Involved in Participation?

You will undergo clinical assessments and receive medical treatment as determined to be appropriate for you by you and your doctor. Information collected during these clinical assessments and medical treatments will then be submitted to the LSD Registry in a secure electronic database that does not include any personal identifying information.

You will not be required to undergo any additional tests or procedures in order to participate in this LSD Registry.

You will be asked to complete one or more questionnaires about living with your disease and/or pain associated with your disease.

Participant Criteria

Anyone diagnosed with mucopolysaccharide storage disorder type 1 (MPS-1), Gaucher, Fabry, or Pompe disease

Compensation

No payment will be offered to you for participation in the registry.

Visit Requirements

NO extra doctor visits outside of scheduled clinic visits.

Contact Information

Amanda Bawcom
615-322-7602
amanda.d.bawcom@vanderbilt.edu

Want to Participate in this Study?

Enter your name and contact information and this study's coordinators will contact you if there are openings available.

 
 
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