Mucopolysaccharidosis I (MPS I)NCT00144794
Mucopolysaccharidosis I (MPS I) Registry
An observational study of Mucopolysaccharidosis I (MPS I), run by Genzyme, a Sanofi Company at 141 sites in 37 countries.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Mucopolysaccharidosis I (MPS I)
- How many people
- 1,406 participants
- Where
- 141 sitesin 37 countries
- Study dates
- 20 Nov 2003to 31 Dec 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: All Patients with MPS I
Who may be able to join
- 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
Who cannot join
- No exclusion criteria for participation in the MPS I Registry. NOTE: Registry participation does not exclude participation in other clinical studies.
Trial locations and contacts
141 sites in 37 countries.
141 sites in 37 countries
United States53 sites
University of Michigan Pediatrics- Site Number : 840107
Ann Arbor, Michigan, 48109
Children's Hospital Colorado - Aurora- Site Number : 840069
Aurora, Colorado, 80045
University of Colorado at Denver Genetics Site Number : 840068
Aurora, Colorado, 80045
John Hopkins- Site Number : 840044
Baltimore, Maryland
Massachusetts General Hospital-Genetics- Site Number : 840062
Boston, Massachusetts, 02114
Boston Children's Hospital - PIN- Site Number : 840093
Boston, Massachusetts, 2115
University of Virginia School of Medicine-Pediatrics- Site Number : 840078
Charlottesville, Virginia, 22908
Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840011
Chicago, Illinois, 60611
Rush University Medical Center Genetics- Site Number : 840079
Chicago, Illinois, 60612
Cincinnati Children's Hospital-Genetics- Site Number : 840041
Cincinnati, Ohio
Nationwide Children's Hospital- Site Number : 840091
Columbus, Ohio, 43205
Baylor Institute of Metabolic Disease- Site Number : 840058
Dallas, Texas, 75226
Emory University School of Medicine- Human Genetics- Site Number : 840060
Decatur, Georgia, 30033
Duke University Medical Center Genetics Dept- Site Number : 840037
Durham, North Carolina, 27710
University of Florida Dept of Genetics- Site Number : 840083
Gainesville, Florida, 32610
Greenwood Genetic Center - Greenville- Site Number : 840055
Greenville, South Carolina, 29605
Joseph M. Sanzari Children's Hospital- Site Number : 840101
Hackensack, New Jersey, 07601
Indianapolis University School of Medicine- Site Number : 840027
Indianapolis, Indiana, 46202
University of Iowa- Site Number : 840032
Iowa City, Iowa, 52242
Children's Specialty Center - Las Vegas- Site Number : 840008
Las Vegas, Nevada, 89109
Arkansas Children's Hospital- Site Number : 840109
Little Rock, Arkansas, 72202
Southern California Permanente Medical Group- Site Number : 840108
Los Angeles, California, 90027
USC Health Sciences Center Dept of Genetics- Site Number : 840082
Los Angeles, California, 90033
University of Louisville- Genetics- Site Number : 840030
Louisville, Kentucky, 40202
Northwell Health - Site Number : 840102
Manhasset, New York, 11030
University Of Miami SOM- Site Number : 840006
Miami, Florida, 33136
Children's Hospital of Wisconsin-Pediatrics- Site Number : 840054
Milwaukee, Wisconsin, 53226
University of Minnesota Medical Center Pediatrics- Site Number : 840076
Minneapolis, Minnesota, 55455
Saint Peter's University Hospital - New Brunswick- Site Number : 840016
New Brunswick, New Jersey, 08901
Yale University School of Medicine- Site Number : 840047
New Haven, Connecticut, 06510
New York University School Of Medicine- Site Number : 840040
New York, New York, 10016
Children's Hospital of The King's Daughters- Site Number : 840072
Norfolk, Virginia, 23507
UCSF Benioff Children's Hospital - Oakland- Site Number : 840029
Oakland, California, 94609
University of Nebraska Medical Center- Site Number : 840084
Omaha, Nebraska, 68198
Children's Hospital of Orange County- Site Number : 840074
Orange, California, 92868
Stanford Unviersity MC Dept of Genetics- Site Number : 840022
Palo Alto, California, 94305
Children's Hospital of Philadelphia HUP Medical Genetics- Site Number : 840089
Philadelphia, Pennsylvania, 19104
Children's Hospital of Philadelphia- Site Number : 840034
Philadelphia, Pennsylvania
Phoenix Children's Hospital- Site Number : 840003
Phoenix, Arizona, 85016
University of Pittsburgh- Site Number : 840023
Pittsburgh, Pennsylvania, 15224
Oregon Health & Science University (OHSU)- Site Number : 840080
Portland, Oregon, 97239
Rhode Island Hospital Genetics- Site Number : 840053
Providence, Rhode Island, 02903
UC Davis MIND Institute- Site Number : 840010
Sacramento, California, 95817
University of Utah Health Hospital- Site Number : 840092
Salt Lake City, Utah, 84132
University of California at San Diego- Site Number : 840007
San Diego, California, 92093
University of California at San Francisco- Site Number : 840051
San Francisco, California
Seattle Children's Hospital- Site Number : 840028
Seattle, Washington, 98105
University Of Washington Medical Center- Site Number : 840059
Seattle, Washington, 98195
Baystate Medical Center- Site Number : 840002
Springfield, Massachusetts, 01199
Washington University- Site Number : 840100
St Louis, Missouri, 63110
State University of New York- Site Number : 840052
Syracuse, New York, 13210
Pediatric Endocrine Associates- Site Number : 840017
Tampa, Florida, 33612
Children's National Medical Center - Washington- Site Number : 840067
Washington D.C., District of Columbia, 20010
Canada8 sites
Investigational Site Number : 124014
Calgary, Alberta, T2E 7Z4
Investigational Site Number : 124002
Edmonton, Alberta, T6G 2B7
Investigational Site Number : 124021
London, Ontario, N6A 5A5
Investigational Site Number : 124018
Ottawa, Ontario, K1K 4L2
Investigational Site Number : 124001
Sherbrooke, Quebec, J1K 2R1
Investigational Site Number : 124006
Toronto, Ontario, M5G 1X8
Investigational Site Number : 124011
Vancouver, British Columbia, V6H 3N1
Investigational Site Number : 124019
Winnipeg, Manitoba, R3A 1R9
Italy7 sites
Investigational Site Number : 380002
Ancona, 60126
Investigational Site Number : 380004
Cusano Milanino, Milano, 20095
Investigational Site Number : 380003
Genova, 16147
Investigational Site Number : 380007
Milan, Milano, 20142
Investigational Site Number : 380005
Naples
Investigational Site Number : 380008
Padova, 35128
Investigational Site Number : 380006
Rome, Roma, 00165
Taiwan7 sites
Investigational Site Number : 154093
Chiayi City
Investigational Site Number : 152246
Kaohsiung City, 833
Investigational Site Number : 151500
Putz City, Chia-yi
Investigational Site Number : 151179
Taichung, 404
Investigational Site Number : 152153
Tainan, 710
Investigational Site Number : 151182
Taipei, 100
Investigational Site Number : 152321
Taipei, 104
United Kingdom7 sites
Investigational Site Number : 154240
Birmingham, England, B4 6NH
Investigational Site Number : 152156
Glasgow, Glasgow City, G51 4TF
Investigational Site Number : 151123
London, England, NW3 2QG
Investigational Site Number : 151646
London, London, City of, WC1N 3BG
Investigational Site Number : 150303
London, London, City of, WC1N 3JH
Investigational Site Number : 150455
Manchester, Missouri, M13 9WL
Investigational Site Number : 152361
Salford, Manchester, M6 8HD
France5 sites
Investigational Site Number : 250004
Bordeaux, 33076
Investigational Site Number : 250001
Bron, 69677
Investigational Site Number : 250002
Marseille, 13885
Investigational Site Number : 250003
Paris, 75015
Investigational Site Number : 250006
Vandœuvre-lès-Nancy, 54511
Brazil4 sites
Hospital e Maternidade Celso Pierro - PUC-Campinas- Site Number : 076007
Campinas, São Paulo, 13034-685
Private Practice - Dr. Fabiano Klaus- Site Number : 076001
Porto Alegre, Rio Grande do Sul, 90035-002
Instituto Fernandes Figueira - FIOCRUZ- Site Number : 076004
Rio de Janeiro, 22250-020
Instituto de Genética e Erros Inatos do Metabolismo- Site Number : 076002
São Paulo, 04020-041
South Korea4 sites
Investigational Site Number : 153191
Daejeon
Investigational Site Number : 153225
Jeonnam
Investigational Site Number : 153212
Seoul
Investigational Site Number : 153222
Seoul
Thailand4 sites
Investigational Site Number : 764002
Bangkok, 10400
Investigational Site Number : 764003
Bangkok, 10400
Investigational Site Number : 764004
Bangkok, 10700
Investigational Site Number : 764001
Bangkok
Belgium3 sites
Investigational Site Number : 150944
Brussels, 1090
Investigational Site Number : 151668
Leuven, 3000
Investigational Site Number : 154008
Roeselare, 8800
India3 sites
Investigational Site Number : 356003
Ahmedabad, 380015
Investigational Site Number : 356001
Kolkata, 700017
Investigational Site Number : 356002
Vellore, 632004
Argentina2 sites
Investigational Site Number : 153032
Buenos Aires, 1192
Investigational Site Number : 153130
San Luis, 5700
Chile2 sites
Investigational Site Number : 152003
Los Ángeles
Investigational Site Number : 152001
Talcahuano, Biobio, 2687000
Egypt2 sites
Investigational Site Number : 818002
Cairo, 11231
Investigational Site Number : 818001
Cairo
Germany2 sites
Investigational Site Number : 151368
Hamburg, 20246
Investigational Site Number : 150031
Mainz, 55131
Japan2 sites
Investigational Site Number : 392102
Nankoku, Kochi, 783-8505
Investigational Site Number : 392101
Tokyo, 157-8535
Malaysia2 sites
Investigational Site Number : 458001
Kuala Lumpur, 50586
Investigational Site Number : 458002
Kuala Lumpur, 59100
Netherlands2 sites
Investigational Site Number : 151171
Amsterdam
Investigational Site Number : 152029
Rotterdam, 3015 CE
Pakistan2 sites
Investigational Site Number : 154264
Lahore
Investigational Site Number : 154266
Lahore
Russia2 sites
Investigational Site Number : 643001
Moscow, 119571
Investigational Site Number : 643002
Moscow, 125412
Saudi Arabia2 sites
Investigational Site Number : 682001
Al Qaţīf
Investigational Site Number : 682004
Mecca, 24246
Australia1 site
Investigational Site Number : 151069
Westmead, New South Wales, 2145
About this study
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
Read the detailed description
The MPS I Registry is an international program; in addition to the central contact information provided under the "Location" heading, patients may contact:
- In Asia-Pacific - Vivian Liu, +65-6431-2548, Vivian.liu@genzyme.com
- In Europe - +31-35-699-1232, europe@mpsiregistry.com
- In Latin America - +617-591-5500, help@mpsiregistry.com
- In North America - +617-591-5500, help@mpsiregistry.com
- Conditions
- Mucopolysaccharidosis I (MPS I)
- Keywords
- Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
- Medical subject headings
- Mucopolysaccharidosis I
What is being measured
The primary outcome is the main question the study is designed to answer.
To evaluate the long-term effectiveness of Aldurazyme
Measured: Approximately 17 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Sep 2005 (estimated)
- Study start20 Nov 2003
- Primary completion31 Dec 2024
- Study completion31 Dec 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Mucopolysaccharidosis I (MPS I)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 1,406 participants (actual)
Sponsor and investigators
- Lead sponsor
- Genzyme, a Sanofi Company
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Monitor, Study director, Genzyme, a Sanofi Company
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00144794
- Sponsor's protocol ID
- DIREGC07008
- Other IDs
- U1111-1294-8266
- Status last verified
- Feb 2026
- First submitted
- 2 Sep 2005
- Last updated
- 27 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
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.
PubMed 28892147Arn 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.
PubMed 25214650Beck 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.
PubMed 24675674
Study at a glance
From the registry record, last updated by the sponsor on 27 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mucopolysaccharidosis I (MPS I) Registry
- ClinicalTrials.gov ID
- NCT00144794
- Acronym / sponsor ID
- DIREGC07008
- Conditions
- Mucopolysaccharidosis I (MPS I)
- Keywords
- Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,406 participants (actual)
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- 20 Nov 2003 (actual)
- Primary completion
- 31 Dec 2024 (actual)
- Study completion
- 31 Dec 2024 (actual)
- First posted
- 5 Sep 2005 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Detailed description
The MPS I Registry is an international program; in addition to the central contact information provided under the "Location" heading, patients may contact:
- In Asia-Pacific - Vivian Liu, +65-6431-2548, Vivian.liu@genzyme.com
- In Europe - +31-35-699-1232, europe@mpsiregistry.com
- In Latin America - +617-591-5500, help@mpsiregistry.com
- In North America - +617-591-5500, help@mpsiregistry.com
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All Patients with MPS I
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (1 listed)
- No exclusion criteria for participation in the MPS I Registry. NOTE: Registry participation does not exclude participation in other clinical studies.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To evaluate the long-term effectiveness of Aldurazyme
Time frame: Approximately 17 Years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Feb 2026.
- Background: PubMed 28892147Viskochil 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.
- Background: PubMed 25214650Arn 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.
- Background: PubMed 24675674Beck 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Medical Monitor study director
Genzyme, a Sanofi Company
141 sites in 37 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mucopolysaccharidosis I (MPS I), run by Genzyme, a Sanofi Company at 141 sites in 37 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 27 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 141 sites in United States, Canada, Italy, Taiwan, United Kingdom and 32 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To evaluate the long-term effectiveness of Aldurazyme (time frame: Approximately 17 Years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00144794, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Feb 2026.