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Pompe Disease Registry

This study is currently recruiting participants.
See Contacts and Locations
Verified August 2017 by Sanofi ( Genzyme, a Sanofi Company )
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company ) Identifier:
First received: September 30, 2005
Last updated: August 10, 2017
Last verified: August 2017

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®.

Glycogen Storage Disease Type II Pompe Disease

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

Resource links provided by NLM:

Further study details as provided by Sanofi ( Genzyme, a Sanofi Company ):

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

Estimated Enrollment: 2000
Actual Study Start Date: August 21, 2004
Estimated Study Completion Date: September 30, 2022
Estimated Primary Completion Date: September 30, 2022 (Final data collection date for primary outcome measure)

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

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 identifier: NCT00231400

Contact: Trial Transparency email recommended (Toll free number for US & Canada) 800-633-1610 ext 1 then #
Contact: Medical Information 617-252-7832

  Show 50 Study Locations
Sponsors and Collaborators
Genzyme, a Sanofi Company
Study Director: Medical Monitor Genzyme, a Sanofi Company
  More Information

Responsible Party: Genzyme, a Sanofi Company Identifier: NCT00231400     History of Changes
Other Study ID Numbers: Pompe Registry
DIREGC07005 ( Other Identifier: Sanofi )
Study First Received: September 30, 2005
Last Updated: August 10, 2017

Keywords provided by Sanofi ( Genzyme, a Sanofi Company ):
Glycogen Storage Disease Type II (GSD-II)
Pompe Disease
Pompe Disease (late-onset)
Acid Maltase Deficiency Disease
Glycogenosis II

Additional relevant 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
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors processed this record on September 21, 2017