Pompe Disease Registry

This study is currently recruiting participants. (see Contacts and Locations)

Verified August 2014 by Sanofi

Sponsor:

Information provided by (Responsible Party):

Sanofi ( Genzyme, a Sanofi Company )

ClinicalTrials.gov Identifier:

NCT00231400

First received: September 30, 2005

Last updated: August 26, 2014

Last verified: August 2014

History of Changes

Purpose

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
Glycogen Storage Disease Type II Pompe Disease


Study Type:	Observational
Study Design:	Observational Model: Cohort
Official Title:	Pompe Disease Registry

Resource links provided by NLM:

Genetics Home Reference related topics: glycogen storage disease type IX Pompe disease Schindler disease succinic semialdehyde dehydrogenase deficiency

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

U.S. FDA Resources

Further study details as provided by Sanofi:

Primary Outcome Measures:

Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease [ Time Frame: 15 Years ] [ Designated as safety issue: No ]


Estimated Enrollment:	2000
Study Start Date:	September 2004
Estimated Study Completion Date:	September 2021
Estimated Primary Completion Date:	September 2021 (Final data collection date for primary outcome measure)

Eligibility


Genders Eligible for Study:	Both
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

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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00231400

Contacts


Contact: Medical Information	800-745-4447	medinfo@genzyme.com
Contact: Medical Information	617-252-7832	medinfo@genzyme.com

Locations


United States, Massachusetts
Registry participation is worldwide and not limited to this facility; facilities not yet active may enroll upon identification of a patient	Recruiting
Cambridge, Massachusetts, United States, 02142

Sponsors and Collaborators

Genzyme, a Sanofi Company

Investigators


Study Director:	Medical Monitor	Genzyme, a Sanofi Company

More Information

No publications provided


Responsible Party:	Sanofi ( Genzyme, a Sanofi Company )
ClinicalTrials.gov Identifier:	NCT00231400 History of Changes
Other Study ID Numbers:	Pompe Registry, DIREGC07005
Study First Received:	September 30, 2005
Last Updated:	August 26, 2014
Health Authority:	United States: Institutional Review Board

Keywords provided by Sanofi:


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 Glycogen Storage Disease Type II Brain Diseases Brain Diseases, Metabolic Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases	Genetic Diseases, Inborn Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases

ClinicalTrials.gov processed this record on March 03, 2015

To Top