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 : June 18, 2019

See Contacts and Locations

Sponsor:

Information provided by (Responsible Party):

Sanofi ( Genzyme, a Sanofi Company )

Study Description

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®.

Condition or disease
Glycogen Storage Disease Type II Pompe Disease

Study Design

Layout table for study information

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 :	January 31, 2034
Estimated Study Completion Date :	January 31, 2034

Resource links provided by the National Library of Medicine

Genetics Home Reference related topics: Pompe disease Glycogen storage disease type IX

Genetic and Rare Diseases Information Center resources: Glycogen Storage Disease Type 2

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease [ Time Frame: 15 Years ]

Eligibility Criteria

Information from the National Library of Medicine

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.

Layout table for eligibility information

Ages Eligible for Study:	Child, Adult, Older Adult
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Patients diagnosed with Pompe disease

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

Contacts and Locations

Information from the National Library of Medicine

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

Contacts

Layout table for location contacts

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

Show 190 Study Locations

Sponsors and Collaborators

Genzyme, a Sanofi Company

Investigators

Layout table for investigator information

Study Director:	Medical Monitor	Genzyme, a Sanofi Company

More Information

Publications:

Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Mol Genet Metab. 2014 Sep-Oct;113(1-2):84-91. doi: 10.1016/j.ymgme.2014.07.014. Epub 2014 Jul 16.

Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J; Pompe Registry Boards of Advisors. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013 Oct;161A(10):2431-43. doi: 10.1002/ajmg.a.36110. Epub 2013 Aug 30.

Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, van der Ploeg A. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011 May;103(1):1-11. doi: 10.1016/j.ymgme.2011.02.004. Epub 2011 Feb 11. Erratum in: Mol Genet Metab. 2011 Nov;104(3):424.

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Zhao Y, Wang Z, Lu J, Gu X, Huang Y, Qiu Z, Wei Y, Yan C. Characteristics of Pompe disease in China: a report from the Pompe registry. Orphanet J Rare Dis. 2019 Apr 3;14(1):78. doi: 10.1186/s13023-019-1054-0.

Layout table for additonal information

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:	June 18, 2019
Last Verified:	June 2019

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:

Layout table for MeSH terms

Glycogen Storage Disease Type II Glycogen Storage Disease Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn 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

To Top