We are experiencing 4 week turn-around time in review of submissions and resubmissions. We recommend commencing this process concurrently with your ethics submission and allowing at least 8 weeks for registration to be completed from date of first submission. We currently do not have the capacity to expedite reviews.

Note also there are delays to review of updates. We appreciate your patience.

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/show/NCT00144794




Registration number
NCT00144794
Ethics application status
Date submitted
2/09/2005
Date registered
5/09/2005
Date last updated
23/03/2021

Titles & IDs
Public title
Mucopolysaccharidosis I (MPS I) Registry
Scientific title
Mucopolysaccharidosis I (MPS I) Registry
Secondary ID [1] 0 0
DIREGC07008
Secondary ID [2] 0 0
MPS I Registry
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Mucopolysaccharidosis I (MPS I) 0 0
Condition category
Condition code
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Metabolic and Endocrine 0 0 0 0
Other metabolic disorders

Intervention/exposure
Study type
Observational
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
To evaluate the long-term effectiveness of Aldurazyme
Timepoint [1] 0 0
Approximately 17 Years

Eligibility
Key inclusion criteria
- All patients with a confirmed diagnosis of MPS I are eligible for inclusion. Confirmed
diagnosis is defined as: A. documented biochemical evidence of a deficiency in alpha
(a)-L-iduronidase enzyme activity and/or B. mutation(s) in the gene coding for
a-L-iduronidase, or measurable clinical signs and symptoms of MPS I

- For all patients there should be a completed patient authorization form
Minimum age
No limit
Maximum age
No limit
Gender
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
- No exclusion criteria for participation in the MPS I Registry. NOTE: Registry
participation does not exclude participation in other clinical studies.

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
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
Recruitment hospital [1] 0 0
Investigational Site Number 152096 - Brisbane
Recruitment hospital [2] 0 0
Investigational Site Number 151069 - Westmead
Recruitment postcode(s) [1] 0 0
4101 - Brisbane
Recruitment postcode(s) [2] 0 0
2145 - Westmead
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Arizona
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
Iowa
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
Maryland
Country [14] 0 0
United States of America
State/province [14] 0 0
Massachusetts
Country [15] 0 0
United States of America
State/province [15] 0 0
Michigan
Country [16] 0 0
United States of America
State/province [16] 0 0
Minnesota
Country [17] 0 0
United States of America
State/province [17] 0 0
Missouri
Country [18] 0 0
United States of America
State/province [18] 0 0
Montana
Country [19] 0 0
United States of America
State/province [19] 0 0
Nebraska
Country [20] 0 0
United States of America
State/province [20] 0 0
Nevada
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
Texas
Country [30] 0 0
United States of America
State/province [30] 0 0
Utah
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
Argentina
State/province [35] 0 0
Ciudad Autónoma De Buenos Aires
Country [36] 0 0
Belgium
State/province [36] 0 0
Brussel
Country [37] 0 0
Belgium
State/province [37] 0 0
Bruxelles
Country [38] 0 0
Belgium
State/province [38] 0 0
Leuven
Country [39] 0 0
Belgium
State/province [39] 0 0
Roeselare
Country [40] 0 0
Brazil
State/province [40] 0 0
Campinas
Country [41] 0 0
Brazil
State/province [41] 0 0
Porto Alegre
Country [42] 0 0
Brazil
State/province [42] 0 0
Rio De Janeiro
Country [43] 0 0
Brazil
State/province [43] 0 0
São Paulo
Country [44] 0 0
Canada
State/province [44] 0 0
Calgary
Country [45] 0 0
Canada
State/province [45] 0 0
Edmonton
Country [46] 0 0
Canada
State/province [46] 0 0
Halifax
Country [47] 0 0
Canada
State/province [47] 0 0
London
Country [48] 0 0
Canada
State/province [48] 0 0
Moncton
Country [49] 0 0
Canada
State/province [49] 0 0
Montreal
Country [50] 0 0
Canada
State/province [50] 0 0
Sherbrooke
Country [51] 0 0
Canada
State/province [51] 0 0
Toronto
Country [52] 0 0
Canada
State/province [52] 0 0
Vancouver
Country [53] 0 0
Canada
State/province [53] 0 0
Winnipeg
Country [54] 0 0
Chile
State/province [54] 0 0
Los Angeles
Country [55] 0 0
Chile
State/province [55] 0 0
Punta Arenas
Country [56] 0 0
Chile
State/province [56] 0 0
Talcahuano
Country [57] 0 0
Colombia
State/province [57] 0 0
Bogotá
Country [58] 0 0
Czechia
State/province [58] 0 0
Praha 2
Country [59] 0 0
Denmark
State/province [59] 0 0
København Ø
Country [60] 0 0
Egypt
State/province [60] 0 0
Cairo
Country [61] 0 0
France
State/province [61] 0 0
Bordeaux
Country [62] 0 0
France
State/province [62] 0 0
Bron Cedex
Country [63] 0 0
France
State/province [63] 0 0
Marseille Cedex 05
Country [64] 0 0
France
State/province [64] 0 0
Paris Cedex 12
Country [65] 0 0
France
State/province [65] 0 0
Paris
Country [66] 0 0
France
State/province [66] 0 0
Vandoeuvre Les Nancy Cedex
Country [67] 0 0
Germany
State/province [67] 0 0
Hamburg
Country [68] 0 0
Germany
State/province [68] 0 0
Mainz
Country [69] 0 0
Hong Kong
State/province [69] 0 0
Kowloon
Country [70] 0 0
Hungary
State/province [70] 0 0
Pécs
Country [71] 0 0
India
State/province [71] 0 0
Ahmedabad
Country [72] 0 0
India
State/province [72] 0 0
Kolkata
Country [73] 0 0
India
State/province [73] 0 0
Vellore
Country [74] 0 0
Indonesia
State/province [74] 0 0
Jakarta
Country [75] 0 0
Ireland
State/province [75] 0 0
Dublin
Country [76] 0 0
Italy
State/province [76] 0 0
Ancona
Country [77] 0 0
Italy
State/province [77] 0 0
Cusano Milanino
Country [78] 0 0
Italy
State/province [78] 0 0
Firenze
Country [79] 0 0
Italy
State/province [79] 0 0
Genova
Country [80] 0 0
Italy
State/province [80] 0 0
Milano
Country [81] 0 0
Italy
State/province [81] 0 0
Napoli
Country [82] 0 0
Italy
State/province [82] 0 0
Padova
Country [83] 0 0
Italy
State/province [83] 0 0
Roma
Country [84] 0 0
Italy
State/province [84] 0 0
Udine
Country [85] 0 0
Japan
State/province [85] 0 0
Nangoku-Shi
Country [86] 0 0
Japan
State/province [86] 0 0
Setagaya
Country [87] 0 0
Korea, Republic of
State/province [87] 0 0
Busan
Country [88] 0 0
Korea, Republic of
State/province [88] 0 0
Changwon-Si
Country [89] 0 0
Korea, Republic of
State/province [89] 0 0
Daejeon
Country [90] 0 0
Korea, Republic of
State/province [90] 0 0
Jeju-si
Country [91] 0 0
Korea, Republic of
State/province [91] 0 0
Jeonnam
Country [92] 0 0
Korea, Republic of
State/province [92] 0 0
Seoul
Country [93] 0 0
Korea, Republic of
State/province [93] 0 0
Yangsan
Country [94] 0 0
Kuwait
State/province [94] 0 0
Kuwait
Country [95] 0 0
Malaysia
State/province [95] 0 0
Jalan Pahang
Country [96] 0 0
Malaysia
State/province [96] 0 0
Kuala Lumpur
Country [97] 0 0
Netherlands
State/province [97] 0 0
Amsterdam
Country [98] 0 0
Netherlands
State/province [98] 0 0
Rotterdam
Country [99] 0 0
Philippines
State/province [99] 0 0
Manila
Country [100] 0 0
Poland
State/province [100] 0 0
Warszawa
Country [101] 0 0
Portugal
State/province [101] 0 0
Coimbra
Country [102] 0 0
Romania
State/province [102] 0 0
Cluj Napoca
Country [103] 0 0
Russian Federation
State/province [103] 0 0
Moscow
Country [104] 0 0
Saudi Arabia
State/province [104] 0 0
Qatif
Country [105] 0 0
Singapore
State/province [105] 0 0
Singapore
Country [106] 0 0
Slovakia
State/province [106] 0 0
Bratislava
Country [107] 0 0
Sweden
State/province [107] 0 0
Stockholm
Country [108] 0 0
Taiwan
State/province [108] 0 0
Chiayi
Country [109] 0 0
Taiwan
State/province [109] 0 0
Hualien
Country [110] 0 0
Taiwan
State/province [110] 0 0
Kaohsiung Hsien,
Country [111] 0 0
Taiwan
State/province [111] 0 0
Kaohsiung
Country [112] 0 0
Taiwan
State/province [112] 0 0
New Taipei City
Country [113] 0 0
Taiwan
State/province [113] 0 0
Putz City, Chia-Yi
Country [114] 0 0
Taiwan
State/province [114] 0 0
Taichung City
Country [115] 0 0
Taiwan
State/province [115] 0 0
Taichung
Country [116] 0 0
Taiwan
State/province [116] 0 0
Tainan
Country [117] 0 0
Taiwan
State/province [117] 0 0
Taipei
Country [118] 0 0
Taiwan
State/province [118] 0 0
Tao Yuan County
Country [119] 0 0
Thailand
State/province [119] 0 0
Bangkok
Country [120] 0 0
Thailand
State/province [120] 0 0
Khon Kaen
Country [121] 0 0
United Arab Emirates
State/province [121] 0 0
Dubai
Country [122] 0 0
United Kingdom
State/province [122] 0 0
Birmingham
Country [123] 0 0
United Kingdom
State/province [123] 0 0
Glasgow
Country [124] 0 0
United Kingdom
State/province [124] 0 0
London
Country [125] 0 0
United Kingdom
State/province [125] 0 0
Manchester
Country [126] 0 0
United Kingdom
State/province [126] 0 0
Salford
Country [127] 0 0
Vietnam
State/province [127] 0 0
Hanoi
Country [128] 0 0
Vietnam
State/province [128] 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 Mucopolysaccharidosis I (MPS I) Registry is an ongoing, observational database that
tracks the outcomes of patients with MPS I. The data collected by the MPS I Registry will
provide information to better characterize the natural history and progression of MPS I as
well as the clinical responses of patients receiving enzyme replacement therapy, such as
Aldurazyme (Recombinant Human Alpha-L-Iduronidase), or other treatment modalities.

The objectives of the Registry are:

- To evaluate the long-term effectiveness and safety of Aldurazyme® (laronidase)

- To characterize and describe the MPS I population as a whole, including the variability,
progression, and natural history of MPS I

- To help the MPS I medical community with the development of recommendations for
monitoring patients and reports on patient outcomes to optimize patient care
Trial website
https://clinicaltrials.gov/show/NCT00144794
Trial related presentations / publications
Viskochil D, Muenzer J, Guffon N, Garin C, Munoz-Rojas MV, Moy KA, Hutchinson DT. Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study. Dev Med Child Neurol. 2017 Dec;59(12):1269-1275. doi: 10.1111/dmcn.13545. Epub 2017 Sep 11.
Arn P, Bruce IA, Wraith JE, Travers H, Fallet S. Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. Ann Otol Rhinol Laryngol. 2015 Mar;124(3):198-205. doi: 10.1177/0003489414550154. Epub 2014 Sep 11.
Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, Fallet S. The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med. 2014 Oct;16(10):759-65. doi: 10.1038/gim.2014.25. Epub 2014 Mar 27.
Public notes

Contacts
Principal investigator
Name 0 0
Medical Monitor
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
For site information, send an email with site number to
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact-Us@sanofi.com
Contact person for scientific queries

Summary results
For IPD and results data, please see https://clinicaltrials.gov/show/NCT00144794