Clinical Research Details

Clinical Research

Rare Disease Registry

Study Description

This is a registry (data bank) for patients of all ages with Gaucher, Fabry, Pompe, or MPS1 disease. The sponsors of this registry are Genzyme Corporation (Genzyme) (United States) and Sanofi Genzyme B.V. (Sanofi) (European Union).

The type of information collected and used by the Registry under the terms of this consent form includes your initials and date of birth (where permitted by law), gender, and certain medical information. The medical information includes, but is not limited to, information related to your disease (including signs, symptoms, and medical history), any treatment(s) you may be receiving, laboratory and other test results, and other health information about you. You may also be asked to complete questionnaires about your quality of life or physical status, and your responses may be included in the Registry system. These questionnaires may be provided directly to you by your doctor or Sanofi Genzyme or by another means (i.e., electronic, mail, etc.) every 6-12 months. All of this information constitutes your “Medical Information.”

We will ask you to complete questionnaires every 6-12 months as well. If you are pregnant or have ever been pregnant, you have the option of letting us collect information about your baby/child. All treatments, tests, and/or procedures will be given per your usual care and are not part of this study.

There is no direct benefit for your participation in this Registry.

Although every effort will be made to keep your information confidential, there is a small risk that an unauthorized person may obtain your information. Therefore, there is a very slight risk that a test result could be linked to your identity and accidentally shared with a third party.

Open Enrollment

Contact Name: Amanda Prince
Contact Phone: (904) 427-7079
Contact Email: amanda.prince@jax.ufl.edu

Investigators


Principal Investigator
Anatalia Labilloy, M.D., Ph.D., M.P.H.
Pediatrics

Sub Investigator
Pamela L. Trapane, M.D.
Pediatrics