Pompe Disease Registry Protocol

Brief description of study

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.

Detailed description of study

Study Design Time Perspective: Retrospective and Prospective

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Glycogen Storage Disease Type II, Pompe Disease
  • Gender: Male or Female

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

Updated on 13 Jan 2023 . Study ID: NCT00231400

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What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer  to help accelerate the development of new treatments and to get notified about similar trials.

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