Pompe Disease Registry

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ClinicalTrials.gov Identifier: NCT00231400

Recruitment Status : Recruiting

First Posted : October 4, 2005

Last Update Posted : August 14, 2017

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


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

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

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Ages Eligible for Study:	Child, Adult, Senior
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


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 50 Study Locations

Sponsors and Collaborators

Genzyme, a Sanofi Company

Investigators


Study Director:	Medical Monitor	Genzyme, a Sanofi Company

More 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:	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

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