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. |
ClinicalTrials.gov Identifier: NCT00231400 |
Recruitment Status
:
Recruiting
First Posted
: October 4, 2005
Last Update Posted
: August 14, 2017
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
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®.
Condition or disease |
---|
Glycogen Storage Disease Type II Pompe Disease |
Study Type : | Observational |
Estimated Enrollment : | 2000 participants |
Observational Model: | Cohort |
Time Perspective: | Other |
Official Title: | Pompe Disease Registry |
Actual Study Start Date : | August 21, 2004 |
Estimated Primary Completion Date : | September 30, 2022 |
Estimated Study Completion Date : | September 30, 2022 |
- Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease [ Time Frame: 15 Years ]

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | Child, Adult, Senior |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00231400
Contact: Trial Transparency email recommended (Toll free number for US & Canada) | 800-633-1610 ext 1 then # | Contact-Us@sanofi.com | |
Contact: Medical Information | 617-252-7832 | medinfo@genzyme.com |

Study Director: | Medical Monitor | Genzyme, a Sanofi Company |
Responsible Party: | Genzyme, a Sanofi Company |
ClinicalTrials.gov Identifier: | NCT00231400 History of Changes |
Other Study ID Numbers: |
Pompe Registry DIREGC07005 ( Other Identifier: Sanofi ) |
First Posted: | October 4, 2005 Key Record Dates |
Last Update Posted: | August 14, 2017 |
Last Verified: | August 2017 |
Keywords provided by Sanofi ( Genzyme, a Sanofi Company ):
Glycogen Storage Disease Type II (GSD-II) GSD-II Pompe Disease |
Pompe Disease (late-onset) Acid Maltase Deficiency Disease Glycogenosis II |
Additional relevant MeSH terms:
Brain Diseases, Metabolic, Inborn Glycogen Storage Disease Type II Glycogen Storage Disease Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases |
Nervous System Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Carbohydrate Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases |