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Pompe Disease Registry Protocol

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ClinicalTrials.gov Identifier: NCT00231400
Recruitment Status : Recruiting
First Posted : October 4, 2005
Last Update Posted : January 26, 2021
Sponsor:
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company )

Study Description
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Brief Summary:

The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and non-research related purposes.

The objectives of the Registry are:

  • To enhance understanding of the variability, progression, identification, and natural history of Pompe disease, with the ultimate goal of better guiding and assessing therapeutic intervention.
  • To assist the Pompe medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care.
  • To characterize the Pompe disease population.
  • To evaluate the long-term effectiveness of alglucosidase alfa.

Condition or disease
Glycogen Storage Disease Type II Pompe Disease

Detailed Description:
Study Design Time Perspective: Retrospective and Prospective
Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 2000 participants
Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration: 5 Years
Official Title: Pompe Disease Registry
Actual Study Start Date : September 15, 2004
Estimated Primary Completion Date : January 31, 2034
Estimated Study Completion Date : January 31, 2034

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease [ Time Frame: maximum 30 years ]

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All patients with a confirmed diagnosis of Pompe disease are eligible for inclusion in the Registry.
Criteria

Inclusion Criteria:

All patients with a confirmed diagnosis of Pompe disease who have signed the informed consent and authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as documented GAA enzyme deficiency from blood, skin, or muscle tissue and/or documentation of 2 GAA gene mutations.

Exclusion Criteria:

There are no exclusion criteria in this Registry

Contacts and Locations
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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
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Contact: Trial Transparency email recommended (Toll free number for US & Canada) 800-633-1610 ext 1 then # Contact-Us@sanofi.com
Contact: Pompe Registry HelpLine 617-591-5500

Locations
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Sponsors and Collaborators
Genzyme, a Sanofi Company
Investigators
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Study Director: Study Director Genzyme, a Sanofi Company
More Information
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Publications:

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

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Responsible Party: Genzyme, a Sanofi Company
ClinicalTrials.gov Identifier: NCT00231400    
Other Study ID Numbers: DIREGC07005
First Posted: October 4, 2005    Key Record Dates
Last Update Posted: January 26, 2021
Last Verified: January 2021
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:
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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