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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/study/NCT00231400
Registration number
NCT00231400
Ethics application status
Date submitted
30/09/2005
Date registered
4/10/2005
Date last updated
1/02/2024
Titles & IDs
Public title
Pompe Disease Registry Protocol
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Scientific title
Pompe Disease Registry
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Secondary ID [1]
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DIREGC07005
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Secondary ID [2]
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DIREGC07005
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Universal Trial Number (UTN)
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Trial acronym
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Glycogen Storage Disease Type II
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Pompe Disease
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Condition category
Condition code
Metabolic and Endocrine
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Metabolic disorders
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Metabolic and Endocrine
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Other metabolic disorders
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Human Genetics and Inherited Disorders
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0
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Other human genetics and inherited disorders
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Intervention/exposure
Study type
Observational [Patient Registry]
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Patient registry
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Target follow-up duration
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Target follow-up type
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Description of intervention(s) / exposure
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease
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Assessment method [1]
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Timepoint [1]
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maximum 30 years
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Eligibility
Key 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.
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Minimum age
No limit
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Maximum age
No limit
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Sex
Both males and females
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Can healthy volunteers participate?
No
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Key exclusion criteria
There are no exclusion criteria in this Registry
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Study design
Purpose
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Selection
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Statistical methods / analysis
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Recruitment
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Recruiting
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
15/09/2004
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Date of last participant enrolment
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Actual
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Date of last data collection
Anticipated
31/01/2034
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Actual
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Sample size
Target
2000
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Accrual to date
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Final
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Recruitment in Australia
Recruitment state(s)
NSW,QLD,SA,WA
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Recruitment hospital [1]
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Investigational Site Number : 036013 - Westmead
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Recruitment hospital [2]
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Investigational Site Number : 151069 - Westmead
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Recruitment hospital [3]
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Investigational Site Number : 154087 - Herston
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Investigational Site Number : 151002 - Adelaide
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Investigational Site Number : 151015 - Murdoch
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2145 - Westmead
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4006 - Herston
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5000 - Adelaide
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6150 - Murdoch
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Hanoi
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Ho Chi Minh City
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Funding & Sponsors
Primary sponsor type
Commercial sector/industry
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Name
Genzyme, a Sanofi Company
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Ethics approval
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Summary
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.
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Trial website
https://clinicaltrials.gov/study/NCT00231400
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Trial related presentations / publications
Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Mol Genet Metab. 2014 Sep-Oct;113(1-2):84-91. doi: 10.1016/j.ymgme.2014.07.014. Epub 2014 Jul 16. Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J; Pompe Registry Boards of Advisors. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013 Oct;161A(10):2431-43. doi: 10.1002/ajmg.a.36110. Epub 2013 Aug 30. Byrne BJ, Kishnani PS, Case LE, Merlini L, Muller-Felber W, Prasad S, van der Ploeg A. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011 May;103(1):1-11. doi: 10.1016/j.ymgme.2011.02.004. Epub 2011 Feb 11. Erratum In: Mol Genet Metab. 2011 Nov;104(3):424. Zhao Y, Wang Z, Lu J, Gu X, Huang Y, Qiu Z, Wei Y, Yan C. Characteristics of Pompe disease in China: a report from the Pompe registry. Orphanet J Rare Dis. 2019 Apr 3;14(1):78. doi: 10.1186/s13023-019-1054-0.
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Public notes
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Contacts
Principal investigator
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Study Director
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Genzyme, a Sanofi Company
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Trial Transparency email recommended (Toll free number for US & Canada)
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800-633-1610
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[email protected]
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Contact person for scientific queries
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https://clinicaltrials.gov/study/NCT00231400
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