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Pompe Disease Registry

  • Status
    Accepting Candidates
  • Age
    N/A - N/A
  • Sexes
    All
  • Healthy Volunteers
    No
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Objective

The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and non-research related purposes.

The objectives of the Registry are:

  • To enhance understanding of the variability, progression, identification, and natural history of Pompe disease, with the ultimate goal of better guiding and assessing therapeutic intervention.

  • To assist the Pompe medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care.

  • To characterize the Pompe disease population.

  • To evaluate the long-term effectiveness of alglucosidase alfa.

Description

Study Design Time Perspective: Retrospective and Prospective

Details

Full study title Rare Disease Registry - Cross-Registry Protocol
Protocol number OCR41897
ClinicalTrials.gov ID NCT00231400

Eligibility

Inclusion Criteria:

All patients with a confirmed diagnosis of Pompe disease who have signed the informed

consent and authorization form(s) are eligible for inclusion. Confirmed diagnosis is

defined as documented GAA enzyme deficiency from blood, skin, or muscle tissue and/or

documentation of 2 GAA gene mutations.

Exclusion Criteria:

There are no exclusion criteria in this Registry

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.