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(904) 244-0411

Rare Disease Registry

  • Status
    Accepting Candidates
  • Age
    0 Years - 100 Years
  • Sexes
    All
  • Healthy Volunteers
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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.

Details

Protocol number IRB202101353

Eligibility

Patients with Gaucher, Fabry, MPS1 or Pompe. 

Lead researchers

Participate in a study

Here are some general steps to consider when participating in a research study:

  1. Step
    1

    Contact the research team

    Call or email the research team listed within the specific clinical trial or study to let them know that you're interested. A member of the research team, such as the researcher or study coordinator, will be available to tell you more about the study and to answer any questions or concerns you may have.

    Primary contact

  2. Step
    2

    Get screened to confirm eligibility

    You may be asked to take part in prescreening to make sure you are eligible for a study. The prescreening process ensures it is safe for you to participate. During the prescreening process, you will be asked some questions and you may also be asked to schedule tests or procedures to confirm your eligibility.

  3. Step
    3

    Provide your consent to participate

    If you are eligible and want to join the clinical trial or study, a member of the research team will ask for your consent to participate. To give consent, you will be asked to read and sign a consent form for the study. This consent form explains the study's purpose, procedures, risks, benefits and provides other important information, such as the study team's contact information.

  4. Step
    4

    Participate

    If you decide to participate in a clinical trial or study, the research team will keep you informed of the study requirements and what you will need to do to throughout the study. For some trials or studies, your health care provider may work with the research team to ensure there are no conflicts with other medications or treatments.