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

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 : May 12, 2020
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 May 12, 2020
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 30, 2013)
Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease [ Time Frame: 15 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
Official Title Pompe Disease Registry
Brief Summary

The Pompe Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Pompe disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician.

The objectives of the Registry are:

  • To enhance the understanding of the variability, progression, and natural history of the key manifestations of Pompe disease;
  • To assist the Pompe medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care;
  • To characterize and describe the Pompe disease population as a whole; and
  • To evaluate the long-term effectiveness and safety of available treatment options including ERT(Enzyme Replacement Therapy) with Myozyme®.
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Patients diagnosed with Pompe disease
  • 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:

  • Patient must have a confirmed diagnosis of Pompe disease, documented by GAA(Glucosidase Alpha Acid) enzyme deficiency or GAA gene mutation

Exclusion Criteria:

  • There are no exclusion criteria
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: Medical Information 617-252-7832
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 Pompe Registry
DIREGC07005 ( Other Identifier: Sanofi )
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: Medical Monitor Genzyme, a Sanofi Company
PRS Account Sanofi
Verification Date May 2020