COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC:

Get the latest research information from NIH: Menu

Pompe Disease Registry Protocol

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00231400
Recruitment Status : Recruiting
First Posted : October 4, 2005
Last Update Posted : January 6, 2021
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company )

Tracking Information
First Submitted Date September 30, 2005
First Posted Date October 4, 2005
Last Update Posted Date January 6, 2021
Actual Study Start Date September 15, 2004
Estimated Primary Completion Date January 31, 2034   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 4, 2021)
Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease [ Time Frame: maximum 30 years ]
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Pompe Disease Registry Protocol
Official Title Pompe Disease Registry
Brief Summary

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 Study Design Time Perspective: Retrospective and Prospective
Study Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration 5 Years
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population All patients with a confirmed diagnosis of Pompe disease are eligible for inclusion in the Registry.
  • Glycogen Storage Disease Type II
  • Pompe Disease
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: January 30, 2013)
Original Enrollment Not Provided
Estimated Study Completion Date January 31, 2034
Estimated Primary Completion Date January 31, 2034   (Final data collection date for primary outcome measure)
Eligibility Criteria

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

Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contact: Trial Transparency email recommended (Toll free number for US & Canada) 800-633-1610 ext 1 then #
Contact: Pompe Registry HelpLine 617-591-5500
Listed Location Countries Argentina,   Australia,   Belgium,   Brazil,   Bulgaria,   Canada,   Chile,   China,   Colombia,   Denmark,   France,   Germany,   Greece,   Hong Kong,   Hungary,   India,   Italy,   Japan,   Korea, Republic of,   Kuwait,   Malaysia,   Netherlands,   Philippines,   Poland,   Portugal,   Russian Federation,   Serbia,   Singapore,   Slovakia,   Taiwan,   Thailand,   United Arab Emirates,   United Kingdom,   United States
Removed Location Countries  
Administrative Information
NCT Number NCT00231400
Other Study ID Numbers DIREGC07005
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Sanofi ( Genzyme, a Sanofi Company )
Study Sponsor Genzyme, a Sanofi Company
Collaborators Not Provided
Study Director: Study Director Genzyme, a Sanofi Company
PRS Account Sanofi
Verification Date May 2020