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Pompe Disease Registry

This study is currently recruiting participants.
Verified January 2013 by Genzyme
Sponsor:
Information provided by (Responsible Party):
Genzyme
ClinicalTrials.gov Identifier:
NCT00231400
First received: September 30, 2005
Last updated: January 30, 2013
Last verified: January 2013
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 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:

U.S. FDA Resources

Further study details as provided by Genzyme:

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)
Detailed Description:

The Pompe Registry is an international program; in addition to the central contact information provided under the "Location" heading, patients may contact:

  • In Asia-Pacific - Vivian Liu, +65-6431-2548, Vivian.liu@genzyme.com
  • In Europe - +31-35-699-1232, europe@PompeRegistry.com
  • In Latin America - +617-591-5500, Help@pomperegistry.com
  • In North America - +617-591-5500, Help@pomperegistry.com
  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 enzyme deficiency or GAA gene mutation

Exclusion Criteria:

  • There are no exclusion criteria
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00231400

Contacts
Contact: Pompe Registry HelpLine 800-745-4447 ext 15500 help@pomperegistry.com
Contact: Pompe Registry HelpLine 617-591-5500 help@pomperegistry.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
Investigators
Study Director: Medical Monitor Genzyme
  More Information

No publications provided

Responsible Party: Genzyme
ClinicalTrials.gov Identifier: NCT00231400     History of Changes
Other Study ID Numbers: Pompe Registry Protocol
Study First Received: September 30, 2005
Last Updated: January 30, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Genzyme:
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:
Glycogen Storage Disease
Glycogen Storage Disease Type II
Metabolic Diseases
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases, Nervous System
 Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Lysosomal Storage Diseases

ClinicalTrials.gov processed this record on May 23, 2013