Trial Review

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been endorsed by the ANZCTR. Before participating in a study, talk to your health care provider and refer to this information for consumers
Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/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
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 - Herston
Recruitment hospital [4] 0 0
Investigational Site Number : 151002 - Adelaide
Recruitment hospital [5] 0 0
Investigational Site Number : 151015 - Murdoch
Recruitment postcode(s) [1] 0 0
2145 - Westmead
Recruitment postcode(s) [2] 0 0
4006 - Herston
Recruitment postcode(s) [3] 0 0
5000 - Adelaide
Recruitment postcode(s) [4] 0 0
6150 - Murdoch
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Alabama
Country [2] 0 0
United States of America
State/province [2] 0 0
Arkansas
Country [3] 0 0
United States of America
State/province [3] 0 0
California
Country [4] 0 0
United States of America
State/province [4] 0 0
Colorado
Country [5] 0 0
United States of America
State/province [5] 0 0
Connecticut
Country [6] 0 0
United States of America
State/province [6] 0 0
District of Columbia
Country [7] 0 0
United States of America
State/province [7] 0 0
Florida
Country [8] 0 0
United States of America
State/province [8] 0 0
Georgia
Country [9] 0 0
United States of America
State/province [9] 0 0
Illinois
Country [10] 0 0
United States of America
State/province [10] 0 0
Indiana
Country [11] 0 0
United States of America
State/province [11] 0 0
Kansas
Country [12] 0 0
United States of America
State/province [12] 0 0
Kentucky
Country [13] 0 0
United States of America
State/province [13] 0 0
Louisiana
Country [14] 0 0
United States of America
State/province [14] 0 0
Maine
Country [15] 0 0
United States of America
State/province [15] 0 0
Maryland
Country [16] 0 0
United States of America
State/province [16] 0 0
Massachusetts
Country [17] 0 0
United States of America
State/province [17] 0 0
Michigan
Country [18] 0 0
United States of America
State/province [18] 0 0
Minnesota
Country [19] 0 0
United States of America
State/province [19] 0 0
Missouri
Country [20] 0 0
United States of America
State/province [20] 0 0
Nebraska
Country [21] 0 0
United States of America
State/province [21] 0 0
New Jersey
Country [22] 0 0
United States of America
State/province [22] 0 0
New York
Country [23] 0 0
United States of America
State/province [23] 0 0
North Carolina
Country [24] 0 0
United States of America
State/province [24] 0 0
Ohio
Country [25] 0 0
United States of America
State/province [25] 0 0
Oregon
Country [26] 0 0
United States of America
State/province [26] 0 0
Pennsylvania
Country [27] 0 0
United States of America
State/province [27] 0 0
Rhode Island
Country [28] 0 0
United States of America
State/province [28] 0 0
South Carolina
Country [29] 0 0
United States of America
State/province [29] 0 0
Tennessee
Country [30] 0 0
United States of America
State/province [30] 0 0
Texas
Country [31] 0 0
United States of America
State/province [31] 0 0
Virginia
Country [32] 0 0
United States of America
State/province [32] 0 0
Washington
Country [33] 0 0
United States of America
State/province [33] 0 0
Wisconsin
Country [34] 0 0
Argentina
State/province [34] 0 0
Buenos Aires
Country [35] 0 0
Belgium
State/province [35] 0 0
Antwerpen
Country [36] 0 0
Belgium
State/province [36] 0 0
Brugge
Country [37] 0 0
Belgium
State/province [37] 0 0
Bruxelles
Country [38] 0 0
Belgium
State/province [38] 0 0
Edegem
Country [39] 0 0
Belgium
State/province [39] 0 0
Gent
Country [40] 0 0
Belgium
State/province [40] 0 0
Gosselies
Country [41] 0 0
Belgium
State/province [41] 0 0
Leuven
Country [42] 0 0
Brazil
State/province [42] 0 0
Ceará
Country [43] 0 0
Brazil
State/province [43] 0 0
Rio Grande Do Sul
Country [44] 0 0
Brazil
State/province [44] 0 0
São Paulo
Country [45] 0 0
Brazil
State/province [45] 0 0
Rio de Janeiro
Country [46] 0 0
Bulgaria
State/province [46] 0 0
Sofia
Country [47] 0 0
Canada
State/province [47] 0 0
New Brunswick
Country [48] 0 0
Canada
State/province [48] 0 0
Quebec
Country [49] 0 0
Chile
State/province [49] 0 0
Punta Arenas
Country [50] 0 0
Chile
State/province [50] 0 0
Santiago
Country [51] 0 0
China
State/province [51] 0 0
Beijing
Country [52] 0 0
Colombia
State/province [52] 0 0
Bogota
Country [53] 0 0
Croatia
State/province [53] 0 0
Zagreb
Country [54] 0 0
Denmark
State/province [54] 0 0
København Ø
Country [55] 0 0
France
State/province [55] 0 0
Bordeaux
Country [56] 0 0
France
State/province [56] 0 0
Brest
Country [57] 0 0
France
State/province [57] 0 0
BRON Cedex
Country [58] 0 0
France
State/province [58] 0 0
Caen
Country [59] 0 0
France
State/province [59] 0 0
GRENOBLE cedex
Country [60] 0 0
France
State/province [60] 0 0
Lille Cedex
Country [61] 0 0
France
State/province [61] 0 0
Marseille Cedex 05
Country [62] 0 0
France
State/province [62] 0 0
NANCY Cedex
Country [63] 0 0
France
State/province [63] 0 0
NANTES Cedex 1
Country [64] 0 0
France
State/province [64] 0 0
Nice cedex 1
Country [65] 0 0
France
State/province [65] 0 0
NIMES Cedex 9
Country [66] 0 0
France
State/province [66] 0 0
PARIS Cedex 13
Country [67] 0 0
France
State/province [67] 0 0
Paris
Country [68] 0 0
France
State/province [68] 0 0
St Etienne
Country [69] 0 0
France
State/province [69] 0 0
Strasbourg Cedex 2
Country [70] 0 0
France
State/province [70] 0 0
Toulouse
Country [71] 0 0
France
State/province [71] 0 0
Tours
Country [72] 0 0
France
State/province [72] 0 0
Vannes Cedex
Country [73] 0 0
Germany
State/province [73] 0 0
Gießen
Country [74] 0 0
Germany
State/province [74] 0 0
Hamburg
Country [75] 0 0
Greece
State/province [75] 0 0
Thessaloniki
Country [76] 0 0
Hong Kong
State/province [76] 0 0
Kowloon
Country [77] 0 0
Hungary
State/province [77] 0 0
Debrecen
Country [78] 0 0
Hungary
State/province [78] 0 0
Nyíregyháza
Country [79] 0 0
Hungary
State/province [79] 0 0
Pécs
Country [80] 0 0
Hungary
State/province [80] 0 0
Székesfehérvár
Country [81] 0 0
India
State/province [81] 0 0
Ahmedabad
Country [82] 0 0
India
State/province [82] 0 0
Kolkata
Country [83] 0 0
India
State/province [83] 0 0
Secunderabad
Country [84] 0 0
India
State/province [84] 0 0
Vellore
Country [85] 0 0
Indonesia
State/province [85] 0 0
Jakarta
Country [86] 0 0
Israel
State/province [86] 0 0
Tel Aviv
Country [87] 0 0
Italy
State/province [87] 0 0
Brescia
Country [88] 0 0
Italy
State/province [88] 0 0
Cagliari
Country [89] 0 0
Italy
State/province [89] 0 0
Ferrara
Country [90] 0 0
Italy
State/province [90] 0 0
Firenze
Country [91] 0 0
Italy
State/province [91] 0 0
Genova
Country [92] 0 0
Italy
State/province [92] 0 0
Messina
Country [93] 0 0
Italy
State/province [93] 0 0
Milano
Country [94] 0 0
Italy
State/province [94] 0 0
Monza
Country [95] 0 0
Italy
State/province [95] 0 0
Napoli
Country [96] 0 0
Italy
State/province [96] 0 0
Padova
Country [97] 0 0
Italy
State/province [97] 0 0
Pavia
Country [98] 0 0
Italy
State/province [98] 0 0
Roma
Country [99] 0 0
Italy
State/province [99] 0 0
Torino
Country [100] 0 0
Italy
State/province [100] 0 0
Udine
Country [101] 0 0
Japan
State/province [101] 0 0
Kyoto
Country [102] 0 0
Japan
State/province [102] 0 0
Okinawa
Country [103] 0 0
Jordan
State/province [103] 0 0
Amman
Country [104] 0 0
Korea, Republic of
State/province [104] 0 0
Gyeongsangnam-do
Country [105] 0 0
Korea, Republic of
State/province [105] 0 0
Daejeon
Country [106] 0 0
Korea, Republic of
State/province [106] 0 0
Jeonnam
Country [107] 0 0
Korea, Republic of
State/province [107] 0 0
Seoul
Country [108] 0 0
Korea, Republic of
State/province [108] 0 0
Yangsan
Country [109] 0 0
Kuwait
State/province [109] 0 0
Kuwait
Country [110] 0 0
Lebanon
State/province [110] 0 0
Beirut
Country [111] 0 0
Lebanon
State/province [111] 0 0
Hazmieh
Country [112] 0 0
Malaysia
State/province [112] 0 0
Jalan Pahang
Country [113] 0 0
Malaysia
State/province [113] 0 0
Lembah Pantai
Country [114] 0 0
Netherlands
State/province [114] 0 0
Rotterdam
Country [115] 0 0
Pakistan
State/province [115] 0 0
Karachi
Country [116] 0 0
Pakistan
State/province [116] 0 0
Lahore
Country [117] 0 0
Philippines
State/province [117] 0 0
Manila
Country [118] 0 0
Poland
State/province [118] 0 0
Warszawa
Country [119] 0 0
Portugal
State/province [119] 0 0
Coimbra
Country [120] 0 0
Portugal
State/province [120] 0 0
Lisboa
Country [121] 0 0
Romania
State/province [121] 0 0
Bucuresti
Country [122] 0 0
Russian Federation
State/province [122] 0 0
Moscow
Country [123] 0 0
Saudi Arabia
State/province [123] 0 0
Makkah
Country [124] 0 0
Saudi Arabia
State/province [124] 0 0
Qatif
Country [125] 0 0
Serbia
State/province [125] 0 0
Belgrade
Country [126] 0 0
Singapore
State/province [126] 0 0
Singapore
Country [127] 0 0
Slovakia
State/province [127] 0 0
Bratislava
Country [128] 0 0
Taiwan
State/province [128] 0 0
Chiayi
Country [129] 0 0
Taiwan
State/province [129] 0 0
Hualien
Country [130] 0 0
Taiwan
State/province [130] 0 0
Kaohsiung Hsien,
Country [131] 0 0
Taiwan
State/province [131] 0 0
Kaohsiung
Country [132] 0 0
Taiwan
State/province [132] 0 0
New Taipei City
Country [133] 0 0
Taiwan
State/province [133] 0 0
Putz City, Chia-yi
Country [134] 0 0
Taiwan
State/province [134] 0 0
Taichung City
Country [135] 0 0
Taiwan
State/province [135] 0 0
Taichung
Country [136] 0 0
Taiwan
State/province [136] 0 0
Tainan
Country [137] 0 0
Taiwan
State/province [137] 0 0
Taipei
Country [138] 0 0
Taiwan
State/province [138] 0 0
Tao Yuan County
Country [139] 0 0
Thailand
State/province [139] 0 0
Bangkok
Country [140] 0 0
Thailand
State/province [140] 0 0
Khon Kaen
Country [141] 0 0
United Kingdom
State/province [141] 0 0
Birmingham
Country [142] 0 0
Vietnam
State/province [142] 0 0
Hanoi
Country [143] 0 0
Vietnam
State/province [143] 0 0
Ho Chi Minh City

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/ct2/show/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.
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/ct2/show/NCT00231400