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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
20/11/2024

Titles & IDs
Public title
Pompe Disease Registry Protocol
Scientific title
Pompe Disease Registry
Secondary ID [1] 0 0
DIREGC07005
Secondary ID [2] 0 0
DIREGC07005
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Glycogen Storage Disease Type II 0 0
Pompe Disease 0 0
Condition category
Condition code
Metabolic and Endocrine 0 0 0 0
Metabolic disorders
Metabolic and Endocrine 0 0 0 0
Other metabolic disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders

Intervention/exposure
Study type
Observational [Patient Registry]
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease
Timepoint [1] 0 0
maximum 30 years

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.
Minimum age
No limit
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
There are no exclusion criteria in this Registry

Study design
Purpose
Duration
Selection
Timing
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
15/09/2004
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
31/01/2034
Actual
Sample size
Target
2000
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
NSW,QLD,SA,WA
Recruitment hospital [1] 0 0
Investigational Site Number : 036013 - Westmead
Recruitment hospital [2] 0 0
Investigational Site Number : 151069 - Westmead
Recruitment hospital [3] 0 0
Investigational Site Number : 154087 - Brisbane
Recruitment hospital [4] 0 0
Investigational Site Number : 152096 - Brisbane
Recruitment hospital [5] 0 0
Investigational Site Number : 151002 - Adelaide
Recruitment hospital [6] 0 0
Investigational Site Number : 151015 - Murdoch
Recruitment postcode(s) [1] 0 0
2145 - Westmead
Recruitment postcode(s) [2] 0 0
4029 - Brisbane
Recruitment postcode(s) [3] 0 0
4101 - Brisbane
Recruitment postcode(s) [4] 0 0
5000 - Adelaide
Recruitment postcode(s) [5] 0 0
6150 - Murdoch
Recruitment outside Australia
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Alabama
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Gent
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Chile
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China
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Germany
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Halle (Saale)
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Germany
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Hungary
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Pã©cs
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Hungary
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Ahmedabad
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Kolkata
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India
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Secunderabad
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India
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Vellore
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Indonesia
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Jakarta
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London
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Funding & Sponsors
Primary sponsor type
Commercial sector/industry
Name
Genzyme, a Sanofi Company
Address
Country

Ethics approval
Ethics application status

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.
Trial website
https://clinicaltrials.gov/study/NCT00231400
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.
Public notes

Contacts
Principal investigator
Name 0 0
Study Director
Address 0 0
Genzyme, a Sanofi Company
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Trial Transparency email recommended (Toll free number for US & Canada)
Address 0 0
Country 0 0
Phone 0 0
800-633-1610
Fax 0 0
Email 0 0
[email protected]
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/study/NCT00231400